Autism spectrum disorders: the quest for genetic syndromes (Q38104700)

28 August 2017

Autism spectrum disorders: the quest for genetic syndromes (English)

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28 August 2017

autism spectrum disorder

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autism

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author name string

Dimitrios I Zafeiriou

1

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28 August 2017

Athina Ververi

2

1 reference

28 August 2017

Vaios Dafoulis

3

1 reference

28 August 2017

Efrosini Kalyva

4

1 reference

28 August 2017

Euthymia Vargiami

5

1 reference

28 August 2017

3 May 2013

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

28 August 2017

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28 August 2017

162B

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28 August 2017

327-366

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28 August 2017

4

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Advances in autism genetics: on the threshold of a new neurobiology

28 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

DYRK1A BAC transgenic mice show altered synaptic plasticity with learning and memory defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Case report: autistic disorder in Kabuki syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Clinical and biological parameters in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: a Copenhagen experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Sotos syndrome: evolution of facial phenotype subjective and objective assessment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Association of common variants in the Joubert syndrome gene (AHI1) with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism: the role of cholesterol in treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Long-term depression is reduced in cerebellar Purkinje cells of dystrophin-deficient mdx mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Social phenotypes of autism spectrum disorders and williams syndrome: similarities and differences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Brief report: autism and Aarskog syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Mouse model of Timothy syndrome recapitulates triad of autistic traits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autistic behavior in young boys with fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

CHD7 cooperates with PBAF to control multipotent neural crest formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism and Möbius sequence: an exploratory study of children in northeastern Brazil

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Behavioural phenotype of Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The autism-spectrum quotient (AQ): evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Neuroligin1: a cell adhesion molecule that recruits PSD-95 and NMDA receptors by distinct mechanisms during synaptogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Three autism candidate genes: a synthesis of human genetic analysis with other disciplines

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Further characterization of the new microdeletion syndrome of 16p11.2-p12.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The behavioral phenotype of the idic(15) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Neuroanatomic observations of the brain in autism: a review and future directions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The mGluR theory of fragile X mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism and abnormal development of brain connectivity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Seizures in fragile X syndrome: characteristics and comorbid diagnoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Recurrent hypersomnia in two adolescent males with Asperger's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism screening questionnaire: diagnostic validity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Behavioral aspects of pediatric epilepsy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Ts65Dn, a mouse model of Down syndrome, exhibits increased GABAB-induced potassium current.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Development of the Children's Communication Checklist (CCC): a method for assessing qualitative aspects of communicative impairment in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism, language and communication in children with sex chromosome trisomies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Klinefelter syndrome as a window on the aetiology of language and communication impairments in children: the neuroligin-neurexin hypothesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A case of N-acetyl galactosaminidase deficiency (Schindler disease) associated with autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

PTEN hamartoma tumor syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The cognitive phenotype in Klinefelter syndrome: a review of the literature including genetic and hormonal factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

21 January 2018

The postsynaptic density

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Association of tuberous sclerosis of temporal lobes with autism and atypical autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Neuroepileptic correlates of autistic symptomatology in tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Early control of seizures improves long-term outcome in children with tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Clinical characterization of the HOXA1 syndrome BSAS variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A synaptic trek to autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A family with a grand-maternally derived interstitial duplication of proximal 15q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Oromotor and communication findings in joubert syndrome: further evidence of multisystem apraxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Neuropsychiatric findings of Möbius sequence -- a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism spectrum disorders in children and adolescents with Moebius sequence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Moebius sequence and autism spectrum disorders--less frequently associated than formerly thought.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Neuromedin U and its receptors: structure, function, and physiological roles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

First report of a Canadian epidemiological study of autistic syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Prader-Willi syndrome and Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Smith-Lemli-Opitz syndrome and autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A case of autism and mosaic of trisomy 8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Danon disease: an unusual presentation of autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Prader-Willi syndrome: current understanding of cause and diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Association between a GABRB3 polymorphism and autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A genetic variant that disrupts MET transcription is associated with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Down syndrome and comorbid autism-spectrum disorder: characterization using the aberrant behavior checklist.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Interrelations among social-cognitive skills in young children with autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Outcome at 7 years of children diagnosed with autism at age 2: predictive validity of assessments conducted at 2 and 3 years of age and pattern of symptom change over time.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Role of cholesterol in ligand binding and G-protein coupling of serotonin1A receptors solubilized from bovine hippocampus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

HDAC4 regulates neuronal survival in normal and diseased retinas

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Prolonged epileptiform discharges induced by altered group I metabotropic glutamate receptor-mediated synaptic responses in hippocampal slices of a fragile X mouse model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism with facial port-wine stain: a new syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Less white matter concentration in autism: 2D voxel-based morphometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Worster-Drought syndrome: poorly recognized despite severe and persistent difficulties with feeding and speech

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism spectrum phenotype in males and females with fragile X full mutation and premutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Structural and functional magnetic resonance imaging of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Parent-child dyadic gaze patterns in fragile X males and in non-fragile X males with autistic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Effects of age and communication level on eye contact in fragile X males and non-fragile X autistic males

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autosomal dominant macrocephaly: benign familial macrocephaly or a new syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Sotos syndrome: a study of the diagnostic criteria and natural history

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism spectrum disorders in tuberous sclerosis: pathogenetic pathways and implications for treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Survey of behaviour problems in children with neuromuscular diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The tuberous sclerosis complex proteins--a GRIPP on cognition and neurodevelopment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC): a postal survey of UK families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Genetics and neuropsychiatric disorders: genome-wide, yet narrow.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

An 8.9 year old girl with autism and Gorlin syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Behavioral relationship between autism and fragile x syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Leber congenital amaurosis: genes, proteins and disease mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Pervasive developmental disorders in Prader-Willi syndrome: the Leuven experience in 59 subjects and controls.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Screening for autism spectrum disorders in children with Down syndrome: population prevalence and screening test characteristics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Neurobehavioral characteristics of children with Duchenne muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Clinical variability of genetic isolates of Cohen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

21 January 2018

Smith-Magenis syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Population frequencies of inherited neuromuscular diseases—A world survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

PTEN: one gene, many syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cardiovascular manifestations in 75 patients with Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cohen syndrome in the Ohio Amish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Chromosome 2q37 deletion: clinical and molecular aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Leber's congenital amaurosis: is there an autistic component?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism: the point of view from fragile X studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Language and behavior in children with Sotos syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Limb abnormalities and chorion villus sampling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: preliminary report of 12 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Epidemiological surveys of autism and other pervasive developmental disorders: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Rapamycin causes regression of astrocytomas in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The genetics of autistic disorders and its clinical relevance: a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

X-linked mental retardation with marfanoid habitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Novel de novo SHANK3 mutation in autistic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Neurobehavioral phenotype of Klinefelter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism spectrum disorders: developmental disconnection syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Deletion of chromosome 2q37 and autism: a distinct subtype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Alpha thalassaemia-mental retardation, X linked

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Childhood psychosis and neurofibromatosis--more than a coincidence?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The treatment of epilepsy in autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cholesterol and steroid hormones: modulators of oxytocin receptor function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

General anaesthesia for insertion of an automated implantable cardioverter defibrillator in a child with Brugada and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Clinical practice in Turner syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Three new patients with dup(17)(p11.2p11.2) without autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The fragile-X premutation: a maturing perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Recent advances in fragile X: a model for autism and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Fragile X and autism: Intertwined at the molecular level leading to targeted treatments

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Twins with KBG syndrome and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Compulsive, self-injurious, and autistic behavior in children and adolescents with fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism in fragile X syndrome: a category mistake?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cognitive and behavioral characterization of 16p11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Abnormal expression of the G-protein-activated inwardly rectifying potassium channel 2 (GIRK2) in hippocampus, frontal cortex, and substantia nigra of Ts65Dn mouse: a model of Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism profiles of males with fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The DNA sequence of human chromosome 21

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Psychopathology, GABA, and the Rubinstein-Taybi syndrome: a review and case study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Neuropsychiatric disorders in males with duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive--compulsive disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A case report of monozygotic twins with Smith-Magenis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Association of autistic spectrum disorders with dystrophinopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A novel multiple PDZ domain-containing molecule interacting with N-methyl-D-aspartate receptors and neuronal cell adhesion proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Region-specific alterations in brain development in one- to three-year-old boys with fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Links between genetics and pathophysiology in the autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cognitive profile of Turner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Behavioural characteristics and autistic features in individuals with Cohen Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Update on autism: A review of 1300 reports published in 2008

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Does cognitive impairment explain behavioral and social problems of children with neurofibromatosis type 1?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A prevalence study of autism in tuberous sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The nature and frequency of cognitive deficits in children with neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Mental and behavioural outcome of infantile epilepsy treated by vigabatrin in tuberous sclerosis patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Tourette syndrome: evolving concepts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Molecular and phenotypic characterization of ring chromosome 22

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Characterization of autism in young children with tuberous sclerosis complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism and X-linked hypophosphatemia: A possible association?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The NF1 tumor suppressor critically regulates TSC2 and mTOR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autistic spectrum disorders in Möbius sequence: a comprehensive study of 25 individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism spectrum disorders and underlying brain pathology in CHARGE association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cortical activation and synchronization during sentence comprehension in high-functioning autism: evidence of underconnectivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Temporal lobe anatomy and psychiatric symptoms in velocardiofacial syndrome (22q11.2 deletion syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Molecular and cellular genetics of fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The Autistic Neuron: Troubled Translation?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Inborn errors of sterol biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Beckwith Weidemann syndrome: a behavioral phenotype-genotype study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Associated medical disorders and disabilities in children with autistic disorder: a population-based study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Detection of dystrophin in the postsynaptic density of rat brain and deficiency in a mouse model of Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

UBE3A/E6-AP mutations cause Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Neurological and psychological findings in patients with Cohen syndrome: a study of 18 patients aged 11 months to 57 years

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cohen syndrome: essential features, natural history, and heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Overlap with the autism spectrum in young children with Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Diagnostic stability in very young children with autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The yield of laboratory investigations in children with infantile autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Joubert syndrome: review and report of seven new cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Haploinsufficiency of NSD1 causes Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism spectrum features in Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism diagnostic interview: a standardized investigator-based instrument.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

ETR-3 represses Tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A clinical study of Sotos syndrome patients with review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Three novel mutations in greek sotos patients with rare clinical manifestations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Characterizing the musical phenotype in individuals with Williams Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Musical behavior in a neurogenetic developmental disorder: evidence from Williams Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Dopamine transporter immunoreactivity in monkey cerebral cortex: regional, laminar, and ultrastructural localization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Juvenile dentatorubral-pallidoluysian atrophy: new clinical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The distribution of dystrophin in the murine central nervous system: an immunocytochemical study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Central nervous system malformations in the CHARGE association

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The human serotonin receptor 2B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Social interaction behaviors discriminate young children with autism and Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Molecular and clinical characterization of patients with overlapping 10p deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Genome-wide expression studies in autism spectrum disorder, Rett syndrome, and Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Association of syndromic mental retardation and autism with 22q11.2 duplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Prevalence of pervasive developmental disorder in Down's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A form of X-linked mental retardation with marfanoid habitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Partitioning of the serotonin transporter into lipid microdomains modulates transport of serotonin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism and Metabolic Diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism-lessons from the X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Adaptive and maladaptive behavior in children with Smith-Magenis Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

High maternal fever during gestation and severe congenital limb disruptions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism spectrum disorder in children and adolescents with fragile X syndrome: within-syndrome differences and age-related changes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A genetic study of autism in Costa Rica: multiple variables affecting IQ scores observed in a preliminary sample of autistic cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: patterning, proliferation, and mitochondrial functions of 22q11 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The complexity of PDZ domain-mediated interactions at glutamatergic synapses: a case study on neuroligin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Contribution of SHANK3 mutations to autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Differences in the clinical presentation of Trisomy 21 with and without autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cytogenetic and clinical findings in a patient with a deletion of 16q23.1: first report of bilateral cataracts and a 16q deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A case of autism in a child with Apert's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Is the prevalence of Klinefelter syndrome increasing?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autistic disorder in Sotos syndrome: a case report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Characteristics of autism spectrum disorder in Cornelia de Lange syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autistic disorder and 22q11.2 duplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Kleine-Levin syndrome in two subjects with diagnosis of autistic disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

High prevalence of Cohen syndrome among Irish travellers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cole-Hughes macrocephaly syndrome and associated autistic manifestations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Increased coupled gating of L-type Ca2+ channels during hypertension and Timothy syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Neuropsychiatric disorders in the 22q11 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Behavioural phenotype of Cornelia de Lange syndrome: case-control study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Delineation of behavioral phenotypes in genetic syndromes: characteristics of autism spectrum disorder, affect and hyperactivity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism and autistic behavior in Joubert syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A case of partial trisomy of chromosome 8p associated with autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and/or septo-optic dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Hypomelanosis of ITO. A study of 76 infantile cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Linguistic and cognitive functioning and autism symptoms in young children with fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Lack of association of the (AAAT)6 allele of the GXAlu tetranucleotide repeat in intron 27b of the NF1 gene with autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Septo-optic dysplasia complex: a heterogeneous malformation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Association study of SHANK3 gene polymorphisms with autism in Chinese Han population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Identification and characterization of two neuromedin U receptors differentially expressed in peripheral tissues and the central nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Genetic disorders and cerebellar structural abnormalities in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

RNA-mediated neuromuscular disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autistic symptoms among children and young adults with isodicentric chromosome 15

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Social approach and autistic behavior in children with fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Evidence that autistic traits show the same etiology in the general population and at the quantitative extremes (5%, 2.5%, and 1%)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Converging evidence for brain stem injury in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The genetic relationship between individual differences in social and nonsocial behaviours characteristic of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Genetic heterogeneity between the three components of the autism spectrum: a twin study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Phenotypic and genetic overlap between autistic traits at the extremes of the general population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism and auditory brain stem responses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Watershed infarcts in the fetal and neonatal brainstem. An aetiology of central hypoventilation, dysphagia, Möibius syndrome and micrognathia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A new case of trichothiodystrophy associated with autism, seizures, and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

PARK2 copy number aberrations in two children presenting with autism spectrum disorder: further support of an association and possible evidence for a new microdeletion/microduplication syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Chromosome imbalances associated with epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Mindblind eyes: an absence of spontaneous theory of mind in Asperger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Dysregulation of mTOR signaling in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Molecular genetics of neurofibromatosis type 1 (NF1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Response to steroid therapy in autism secondary to autoimmune lymphoproliferative syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Velo-cardio-facial syndrome: 30 Years of study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism and Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Rethinking the nature of genetic vulnerability to autistic spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Deletion of chromosome 13 in Moebius syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism and tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

High levels of Alzheimer beta-amyloid precursor protein (APP) in children with severely autistic behavior and aggression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism, Alzheimer disease, and fragile X: APP, FMRP, and mGluR5 are molecular links

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

CACNA1H mutations in autism spectrum disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism in Angelman syndrome: a population-based study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Brief report: acrocallosal syndrome and autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Prevalence estimation of Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism and genetics: high incidence of specific genetic syndromes in 21 autistic adolescents and adults living in two residential homes in Belgium.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A componential view of theory of mind: evidence from Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Model syndromes for investigating social cognitive and affective neuroscience: a comparison of Autism and Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A new look at XXYY syndrome: medical and psychological features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Expression of the FMR1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

CHARGE syndrome: report of 47 cases and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Dynamic changes in Histone H3 lysine 9 acetylation localization patterns during neuronal maturation require MeCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia: 1953-2003.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Abnormalities of cholesterol metabolism in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Case of Myhre syndrome with autism and peculiar skin histological findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Autism in Angelman syndrome: an exploration of comorbidity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Face recognition and emotion perception in boys with fragile-X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Dystrophin and dystrophin-related protein in the central nervous system of normal controls and Duchenne muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Localisation and characterisation of dystrophin in the central nervous system of controls and patients with Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Abilities and attainment in Smith-Magenis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Gene-network analysis identifies susceptibility genes related to glycobiology in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Histone deacetylase 4 controls chondrocyte hypertrophy during skeletogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Prader-Willi syndrome--a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Mapping corpus callosum deficits in autism: an index of aberrant cortical connectivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cardiovascular anomalies in children and young adults with Ullrich-Turner syndrome the Erlangen experience.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Common genetic variants on 5p14.1 associate with autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Fragile X: leading the way for targeted treatments in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The molecular genetics of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A threshold requirement for Gbx2 levels in hindbrain development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Etiology and pathophysiology of autistic behavior: clues from two cases with an unusual variant of neuroaxonal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Brief report: the association of neurofibromatosis type 1 and autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Neurofibromatosis type 1 revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Above genetics: lessons from cerebral development in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Down syndrome--recent progress and future prospects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Association of Duchenne muscular dystrophy with autism spectrum disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

A genomewide screen of 345 families for autism-susceptibility loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cognitive and psychological profile of males with Becker muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Childhood autism and associated comorbidities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

L-2-Hydroxyglutaric aciduria presenting with severe autistic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

The serotonergic system: its role in pathogenesis and early developmental treatment of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: the future challenge

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Three-generation pedigree of a Möbius syndrome variant with chromosome translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Asperger syndrome associated with Steinert's myotonic dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

MOMO syndrome associated with autism: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

Cerebellar hypoplasia and Cohen syndrome: A confirmed association

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32152

21 January 2018

Identifiers

DOI

10.1002/AJMG.B.32152

1 reference

28 August 2017

1 reference