Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring (Q28259043)

Europe PubMed Central

title

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring (English)

0 references

0 references

Joseph D Buxbaum

12

0 references

Amy C Yang

Amy Yang

6

0 references

Yitzchak Frank

5

Yitzchak Frank

0 references

Benjamin Angarita

2

Benjamin Angarita

0 references

Robert Rapaport

7

Robert Rapaport

0 references

author name string

Alexander Kolevzon

1

0 references

Lauren Bush

3

0 references

A Ting Wang

4

0 references

Jeffrey Saland

8

0 references

Shubhika Srivastava

9

0 references

Cristina Farrell

10

0 references

Lisa J Edelmann

Journal of Neurodevelopmental Disorders

11

0 references

language of work or name

English

0 references

publication date

2014

0 references

published in

0 references

volume

6

0 references

page(s)

39

0 references

issue

1

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/1866-1955-6-39

0 references

cites work

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Growth in Phelan-McDermid syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Clinical utility gene card for: deletion 22q13 syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

A unique presentation of 22q13 deletion syndrome: multicystic kidney, orofacial clefting, and Wilms' tumor

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Deletion 22q13.3 syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Contribution of SHANK3 mutations to autism spectrum disorder

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Molecular and phenotypic characterization of ring chromosome 22

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

20 March 2017

22q13 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Shank3-Rich2 interaction regulates AMPA receptor recycling and synaptic long-term potentiation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

A copy number variation morbidity map of developmental delay

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

9 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Defects in translational regulation contributing to human cognitive and behavioral disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Protein interactome reveals converging molecular pathways among autism disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

29 September 2017

The postsynaptic density

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Expression of postsynaptic density proteins of the ProSAP/Shank family in the thymus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4362650

Novel de novo SHANK3 mutation in autistic patients

2 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-39

Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-39

Further delineation of the 22q13 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-39

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-39

Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-39

Congenital hypotonia in a child with a de novo 22q13 monosomy and 2pter duplication: a clinical and molecular genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-39

22q13 deletion syndrome with central diabetes insipidus: a previously unreported association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-39

Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-39

Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-39

A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-6-39

Recombination of a maternal pericentric inversion results in 22q13 deletion syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25784960

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1866-1955-6-39

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2081735

Dimensions Publication ID

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1866-1955-6-39

OpenCitations bibliographic resource ID

2081735

1 reference