Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. (Q35439249)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11950856%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

title

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation (English)

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9 December 2019

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1

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9 December 2019

Valérie Cormier-Daire

7

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9 December 2019

Stanislas Lyonnet

9

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9 December 2019

Serge Romana

14

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9 December 2019

Laurence Colleaux

17

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9 December 2019

author name string

F Molinari

2

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9 December 2019

S Heuertz

3

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9 December 2019

C Ozilou

4

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9 December 2019

P Gosset

5

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9 December 2019

O Raoul

6

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9 December 2019

J Amiel

8

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9 December 2019

M Le Merrer

10

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9 December 2019

C Turleau

11

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9 December 2019

M-C de Blois

12

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9 December 2019

M Prieur

13

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9 December 2019

M Vekemans

15

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9 December 2019

A Munnich

16

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9 December 2019

language of work or name

English

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publication date

1 April 2002

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Journal of Medical Genetics

9 December 2019

published in

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9 December 2019

volume

39

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9 December 2019

issue

4

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9 December 2019

page(s)

266-270

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Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

9 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

Crossover breakpoint mapping identifies a subtelomeric hotspot for male meiotic recombination

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

Subtle chromosomal rearrangements in children with unexplained mental retardation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

The prevalence of mental retardation: a critical review of recent literature.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735076

26 September 2018

Identifiers

DOI

10.1136/JMG.39.4.266

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11950856%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

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9 December 2019

1 reference