(Q51935034)

17 April 2018

review article

1 reference

title

Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases. (English)

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17 April 2018

author name string

Cédric Le Caignec

1

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17 April 2018

Philippe De Mas

2

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17 April 2018

Marie-Claire Vincent

3

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17 April 2018

Michelle Bocéno

4

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17 April 2018

Georges Bourrouillou

5

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17 April 2018

Jean-Marie Rival

6

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17 April 2018

Albert David

7

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17 April 2018

language of work or name

English

0 references

publication date

1 January 2005

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17 April 2018

American Journal of Medical Genetics

published in

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17 April 2018

volume

132A

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17 April 2018

issue

2

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17 April 2018

page(s)

175-180

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17 April 2018

Genomic microarrays in human genetic disease and cancer

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1 reference

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Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

21 January 2018

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Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.

21 January 2018

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A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome.

21 January 2018

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Delineation of two distinct 6p deletion syndromes

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.30409

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

21 January 2018

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Telomeres: a diagnosis at the end of the chromosomes

21 January 2018

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Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

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An optimized set of human telomere clones for studying telomere integrity and architecture.

21 January 2018

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Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21).

21 January 2018

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Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

21 January 2018

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Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

21 January 2018

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Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

21 January 2018

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Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

21 January 2018

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The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

21 January 2018

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A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

21 January 2018

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A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3.

21 January 2018

1 reference

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Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

21 January 2018

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Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.30409

1 reference

17 April 2018

1 reference

17 April 2018