(Q21261438)

17 August 2022

7

Maria Råstam

Maria

Råstam

1 reference

17 August 2022

12

Catalina Betancur

Catalina

Betancur

1 reference

17 August 2022

Joseph D Buxbaum

1

Joseph D

Buxbaum

1 reference

17 August 2022

Juliet Goldsmith

6

Juliet

Goldsmith

1 reference

17 August 2022

Marion Leboyer

11

Marion

Leboyer

1 reference

17 August 2022

Richard Delorme

5

Richard

Delorme

1 reference

17 August 2022

9

Eric Hollander

Eric

Hollander

1 reference

17 August 2022

2

Guiqing Cai

Guiqing

Cai

1 reference

17 August 2022

3

Gudrun Nygren

Gudrun

Nygren

1 reference

17 August 2022

4

Pauline Chaste

Pauline

Chaste

1 reference

17 August 2022

Jeremy M Silverman

8

Jeremy M

Silverman

1 reference

1009882335

Strong association of de novo copy number mutations with autism

17 August 2022

language of work or name

English

0 references

publication date

2007

0 references

published in

BMC Medical Genetics

0 references

volume

8

0 references

issue

1

0 references

page(s)

68

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Recent advances in the genetics of autism

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 gene.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Etiologic yield of autistic spectrum disorders: a prospective study

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Pervasive developmental disorders in preschool children: confirmation of high prevalence

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Autism as a paradigmatic complex genetic disorder

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Neuropsychiatric aspects of Sotos syndrome. A review and two case illustrations

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Haploinsufficiency of NSD1 causes Sotos syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Chromosomal abnormalities in a clinic sample of individuals with autistic disorder

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

PTEN mutation in a family with Cowden syndrome and autism

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

When is the brain enlarged in autism? A meta-analysis of all brain size reports

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Head circumference is an independent clinical finding associated with autism

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Microcephaly and macrocephaly in autism

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

A clinicopathological study of autism.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Macrocephaly in children and adults with autism.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Autistic disorder in Sotos syndrome: a case report.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Treatment strategies for a case of concurrent pervasive developmental disorder and cerebral gigantism

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

The Asperger Syndrome (and high-functioning autism) Diagnostic Interview (ASDI): a preliminary study of a new structured clinical interview.

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-68

Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-68

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/10.1186%2F1471-2350-8-68

Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-68

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-68

Familial gigantism caused by an NSD1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-68

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-68

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-68

Childhood psychosis and neurofibromatosis--more than a coincidence?

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-68

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-68

Cole-Hughes macrocephaly syndrome and associated autistic manifestations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-68

On macrocephaly, epilepsy, autism, specific facial features, and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-68

Obstetric complications in autism: consequences or causes of the condition?

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-68

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-68

Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

Value of a clinical morphology examination in autism.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2248565

NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18001468

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-8-68

0 references