(Q35439732)

English

A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation

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scholarly article

1 reference

Europe PubMed Central

8 August 2017

A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation (English)

1 reference

Europe PubMed Central

8 August 2017

0 references

1 reference

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inferred from title

Vera M. Kalscheuer

11

1 reference

Europe PubMed Central

8 August 2017

author name string

I Borg

1

1 reference

Europe PubMed Central

8 August 2017

M Squire

2

1 reference

Europe PubMed Central

8 August 2017

C Menzel

3

1 reference

Europe PubMed Central

8 August 2017

K Stout

4

1 reference

Europe PubMed Central

8 August 2017

D Morgan

5

1 reference

Europe PubMed Central

8 August 2017

L Willatt

6

1 reference

Europe PubMed Central

8 August 2017

P C M O'Brien

7

1 reference

Europe PubMed Central

8 August 2017

M A Ferguson-Smith

8

1 reference

Europe PubMed Central

8 August 2017

H H Ropers

9

1 reference

Europe PubMed Central

8 August 2017

N Tommerup

10

1 reference

Europe PubMed Central

8 August 2017

D R Sargan

12

1 reference

Europe PubMed Central

8 August 2017

language of work or name

0 references

publication date

1 June 2002

1 reference

Europe PubMed Central

8 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

8 August 2017

39

1 reference

Europe PubMed Central

8 August 2017

391-399

1 reference

Europe PubMed Central

8 August 2017

6

1 reference

Europe PubMed Central

8 August 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=1735133

12 July 2018

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=1735133

12 July 2018

Use of flow-sorted canine chromosomes in the assignment of canine linkage, radiation hybrid, and syntenic groups to chromosomes: refinement and verification of the comparative chromosome map for dog and human

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

Autism: recent molecular genetic advances

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

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=1735133

12 July 2018

Subtle chromosomal rearrangements in children with unexplained mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

The epidemiology of autism: a review.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

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=1735133

12 July 2018

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=1735133

12 July 2018

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

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=1735133

12 July 2018

Functional characterization of the human PAX3 gene regulatory region.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

Cross-species colour segmenting: a novel tool in human karyotype analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

Refined mapping of the Cohen syndrome gene by linkage disequilibrium.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

Clinical phenotype associated with terminal 2q37 deletion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

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=1735133

12 July 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=1735133

12 July 2018

The structural gene for the M1 subunit of ribonucleotide reductase maps to chromosome 11, band p15, in human and to chromosome 7 in mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

Autism and genetics. A decade of research

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

12 July 2018

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

26 September 2018

Chromosomal disorders and autism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

26 September 2018

Neuropsychiatric assessment of children with autism: a population-based study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735133

26 September 2018

Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer

1 reference

https://pubmed.ncbi.nlm.nih.gov/12070244

12 December 2020

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Identifiers

10.1136/JMG.39.6.391

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

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