Presence of large deletions in kindreds with autism (Q37361780)

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scientific article published on 07 June 2002

Language	Label	Description	Also known as
English	Presence of large deletions in kindreds with autism	scientific article published on 07 June 2002

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Presence of large deletions in kindreds with autism (English)

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

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6

object named as

Annette Estes

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Europe PubMed Central

PMC publication ID

19 August 2017

Anne-Louise Leutenegger

object named as

Anne-Louise Leutenegger

7

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Ellen M. Wijsman

object named as

Ellen M Wijsman

13

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Geraldine Dawson

2

object named as

Geraldine Dawson

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Europe PubMed Central

PMC publication ID

19 August 2017

author name string

Chang-En Yu

1

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Europe PubMed Central

PMC publication ID

19 August 2017

Jeffrey Munson

3

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Europe PubMed Central

PMC publication ID

19 August 2017

Ian D'Souza

4

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Europe PubMed Central

PMC publication ID

19 August 2017

Julie Osterling

5

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Europe PubMed Central

PMC publication ID

19 August 2017

Pamela Flodman

8

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Europe PubMed Central

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19 August 2017

Moyra Smith

9

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Wendy H Raskind

10

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

M Anne Spence

11

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Europe PubMed Central

PMC publication ID

19 August 2017

William McMahon

12

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Gerard D Schellenberg

14

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Europe PubMed Central

PMC publication ID

19 August 2017

language of work or name

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publication date

7 June 2002

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

American Journal of Human Genetics

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Europe PubMed Central

PMC publication ID

19 August 2017

71

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Europe PubMed Central

PMC publication ID

19 August 2017

1

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Europe PubMed Central

PMC publication ID

19 August 2017

100-115

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Europe PubMed Central

PMC publication ID

19 August 2017

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

1 reference

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

6 September 2017

The DNA sequence and comparative analysis of human chromosome 20

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

A genomewide screen for autism susceptibility loci

1 reference

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

6 September 2017

Are rare variants responsible for susceptibility to complex diseases?

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

Identification and analysis of error types in high-throughput genotyping

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

Genetic studies of autistic disorder and chromosome 7

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

A genomic screen of autism: evidence for a multilocus etiology

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

A broader phenotype of autism: the clinical spectrum in twins

1 reference

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

6 September 2017

Mutation of human short tandem repeats

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

A case-control family history study of autism

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

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

1 reference

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

6 September 2017

Infantile autism: a genetic study of 21 twin pairs

1 reference

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

6 September 2017

Assessment of the total number of human transcription units.

1 reference

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

28 September 2017

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

1 reference

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

26 June 2018

Xp deletions associated with autism in three females

1 reference

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

26 June 2018

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

1 reference

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

26 June 2018

Evidence of linkage between the serotonin transporter and autistic disorder

1 reference

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

26 June 2018

Partial 6p trisomy associated with infantile autism

1 reference

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

26 June 2018

Autism associated with marker chromosome

1 reference

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

26 June 2018

Genetic influences and infantile autism

1 reference

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

26 June 2018

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families

1 reference

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

2 September 2018

Evidence supporting WNT2 as an autism susceptibility gene.

1 reference

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

2 September 2018

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

1 reference

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

2 September 2018

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

1 reference

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

2 September 2018

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.

1 reference

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

2 September 2018

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

1 reference

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

2 September 2018

Genetic studies in autistic disorder and chromosome 15.

1 reference

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

2 September 2018

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

1 reference

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

2 September 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12058345

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12058345

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12058345

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12058345

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

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