Macrocephaly as a clinical indicator of genetic subtypes in autism (Q36635655)

15 August 2017

Macrocephaly as a clinical indicator of genetic subtypes in autism (English)

1 reference

15 August 2017

0 references

Steven Klein

1

1 reference

15 August 2017

Pantea Sharifi-Hannauer

series ordinal

2

1 reference

15 August 2017

Julian A Martinez-Agosto

series ordinal

3

1 reference

15 August 2017

29 January 2013

1 reference

15 August 2017

1 reference

15 August 2017

6

1 reference

15 August 2017

1

1 reference

15 August 2017

51-56

1 reference

An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

Novel autism subtype-dependent genetic variants are revealed by quantitative trait and subphenotype association analyses of published GWAS data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

CNTNAP2 variants affect early language development in the general population

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

Clinical genetic testing for patients with autism spectrum disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

PTEN hamartoma tumor syndrome: an overview

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

Genetic testing in autism: how much is enough?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

Brain development in autism: early overgrowth followed by premature arrest of growth

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

30 September 2017

The genetics of autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

Autistic disturbances of affective contact

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

United States head circumference growth reference charts: birth to 21 years

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

Evidence of brain overgrowth in the first year of life in autism

28 June 2018

1 reference

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

21 January 2018

1 reference

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

21 January 2018

1 reference

Beckwith Weidemann syndrome: a behavioral phenotype-genotype study.

21 January 2018

1 reference

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

21 January 2018

1 reference

Cole-Hughes macrocephaly syndrome and associated autistic manifestations.

21 January 2018

1 reference

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.

21 January 2018

1 reference

[Identification of candidate genes of autism on the basis of molecular cytogenetic and in silico studies of the genome organization of chromosomal regions involved in unbalanced rearrangements].

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581311

20 September 2018

The genetics of autism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23361946

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AUR.1266

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

23361946

1 reference