Presence of large deletions in kindreds with autism (Q37361780)

19 August 2017

Presence of large deletions in kindreds with autism (English)

1 reference

19 August 2017

0 references

Annette Estes

1 reference

19 August 2017

Anne-Louise Leutenegger

object named as

Anne-Louise Leutenegger

0 references

Ellen M Wijsman

0 references

Geraldine Dawson

1 reference

19 August 2017

Chang-En Yu

1 reference

19 August 2017

Jeffrey Munson

1 reference

19 August 2017

Ian D'Souza

1 reference

19 August 2017

Julie Osterling

1 reference

19 August 2017

Pamela Flodman

1 reference

19 August 2017

Moyra Smith

1 reference

19 August 2017

Wendy H Raskind

1 reference

19 August 2017

M Anne Spence

1 reference

19 August 2017

William McMahon

1 reference

19 August 2017

Gerard D Schellenberg

1 reference

19 August 2017

language of work or name

English

0 references

publication date

7 June 2002

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

1 reference

19 August 2017

1 reference

19 August 2017

100-115

1 reference

Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

The DNA sequence and comparative analysis of human chromosome 20

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

A genomewide screen for autism susceptibility loci

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Are rare variants responsible for susceptibility to complex diseases?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Creation of genome-wide protein expression libraries using random activation of gene expression

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Identification and analysis of error types in high-throughput genotyping

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

An autosomal genomic screen for autism. Collaborative linkage study of autism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Genetic studies of autistic disorder and chromosome 7

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

A genomic screen of autism: evidence for a multilocus etiology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

A broader phenotype of autism: the clinical spectrum in twins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Mutation of human short tandem repeats

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Clinical and molecular analysis of five inv dup(15) patients.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

A case-control family history study of autism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Brief report: duplication of chromosome 15q11-13 in two individuals with autistic disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Autism as a strongly genetic disorder: evidence from a British twin study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Association study with two markers of a human homeogene in infantile autism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Concordance for the syndrome of autism in 40 pairs of afflicted twins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Performing the exact test of Hardy-Weinberg proportion for multiple alleles

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Infantile autism: a genetic study of 21 twin pairs

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Assessment of the total number of human transcription units.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish population

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Xp deletions associated with autism in three females

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism?

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Evidence of linkage between the serotonin transporter and autistic disorder

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Partial 6p trisomy associated with infantile autism

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Autism associated with marker chromosome

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Genetic influences and infantile autism

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Evidence supporting WNT2 as an autism susceptibility gene.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

A study of novel polymorphisms in the upstream region of vasoactive intestinal peptide receptor type 2 gene in autism

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Genetic studies in autistic disorder and chromosome 15.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Case reports of autism with interstitial deletion of chromosome 17 (p11.2 p11.2) and monosomy of chromosome 5 (5pter-->5p15.3).

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384967

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

2 September 2018

1 reference

12 December 2020

The PML gene is linked to a megabase-scale insertion/deletion restriction fragment length polymorphism

1 reference

12 December 2020

Cloning and characterization of a Golgin-related gene from the large-scale polymorphism linked to the PML gene

1 reference

12 December 2020

A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders

1 reference

12 December 2020

Identifiers

DOI

10.1086/341291

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

12058345

1 reference