(Q38151946)

English

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

scientific article published on 23 October 2013

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scholarly article

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Europe PubMed Central

PubMed publication ID

29 August 2017

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene (English)

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Europe PubMed Central

PubMed publication ID

29 August 2017

oculocutaneous albinism

1 reference

based on heuristic

inferred from title

Brigitte Gilbert-Dussardier

9

object named as

Brigitte Gilbert-Dussardier

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object named as

Jérome Toutain

5

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Caroline Rooryck

object named as

Caroline Rooryck

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Josseline Kaplan

object named as

Josseline Kaplan

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object named as

Didier Lacombe

12

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Fanny Morice-Picard

1

object named as

Fanny Morice-Picard

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29 August 2017

author name string

Eulalie Lasseaux

2

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Europe PubMed Central

PubMed publication ID

29 August 2017

Dorothée Cailley

3

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Europe PubMed Central

PubMed publication ID

29 August 2017

Audrey Gros

4

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Europe PubMed Central

PubMed publication ID

29 August 2017

Claudio Plaisant

6

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Europe PubMed Central

PubMed publication ID

29 August 2017

Delphine Simon

7

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Europe PubMed Central

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29 August 2017

Stéphane François

8

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29 August 2017

Benoit Arveiler

13

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29 August 2017

publication date

23 October 2013

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29 August 2017

Pigment Cell & Melanoma Research

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29 August 2017

27

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29 August 2017

1

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59-71

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29 August 2017

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene.

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Structural variation in the human genome

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene.

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

A microhomology-mediated break-induced replication model for the origin of human copy number variation

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Mechanisms of change in gene copy number

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Identification and functional validation of a 5' upstream regulatory sequence in the human tyrosinase gene homologous to the locus control region of the mouse tyrosinase gene

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Velvet: algorithms for de novo short read assembly using de Bruijn graphs

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12173

21 January 2018

Identifiers

10.1111/PCMR.12173

1 reference

Europe PubMed Central

PubMed publication ID

29 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 August 2017

ResearchGate publication ID

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