Literature DB >> 18821858

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

Caroline Rooryck, Fanny Morice-Picard, Nursel H Elçioglu, Didier Lacombe, Alain Taieb, Benoît Arveiler.   

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Year:  2008        PMID： 18821858     DOI： 10.1111/j.1755-148X.2008.00496.x

Source DB:  PubMed          Journal:  Pigment Cell Melanoma Res        ISSN： 1755-1471            Impact factor:   4.693


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  31 in total

1.  Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

Authors:  Faravareh Khordadpoor-Deilamani; Mohammad Taghi Akbari; Morteza Karimipoor; Gholam Reza Javadi
Journal:  J Hum Genet       Date:  2016-01-28       Impact factor: 3.172

2.  Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Authors:  Lucia Mauri; Emanuela Manfredini; Alessandra Del Longo; Emanuela Veniani; Manuela Scarcello; Roberta Terrana; Adriano Egidio Radaelli; Donata Calò; Giuseppe Mingoia; Antonella Rossetti; Giovanni Marsico; Marco Mazza; Giovanni Pietro Gesu; Maria Cristina Patrosso; Silvana Penco; Elena Piozzi; Paola Primignani
Journal:  J Hum Genet       Date:  2016-10-13       Impact factor: 3.172

3.  High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.

Authors:  Caroline Rooryck; Fanny Morice-Picard; Eulalie Lasseaux; Dorothée Cailley; Hélène Dollfus; Sabine Defoort-Dhellemme; Bénédicte Duban-Bedu; Thomy J L de Ravel; Alain Taieb; Didier Lacombe; Benoît Arveiler
Journal:  Hum Genet       Date:  2010-11-18       Impact factor: 4.132

4.  Compendium of causative genes and their encoded proteins for common monogenic disorders.

Authors:  Tucker L Apgar; Charles R Sanders
Journal:  Protein Sci       Date:  2021-09-21       Impact factor: 6.993

Review 5.  Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Authors:  Muhammad Ikram Ullah
Journal:  Genes (Basel)       Date:  2022-06-16       Impact factor: 4.141

Review 6.  DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Authors:  Dimitre R Simeonov; Xinjing Wang; Chen Wang; Yuri Sergeev; Monika Dolinska; Matthew Bower; Roxanne Fischer; David Winer; Genia Dubrovsky; Joan Z Balog; Marjan Huizing; Rachel Hart; Wadih M Zein; William A Gahl; Brian P Brooks; David R Adams
Journal:  Hum Mutat       Date:  2013-04-30       Impact factor: 4.878

7.  Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits.

Authors:  Kasturee Jagirdar; Darren J Smit; Stephen A Ainger; Katie J Lee; Darren L Brown; Brett Chapman; Zhen Zhen Zhao; Grant W Montgomery; Nicholas G Martin; Jennifer L Stow; David L Duffy; Richard A Sturm
Journal:  Pigment Cell Melanoma Res       Date:  2014-05-12       Impact factor: 4.693

8.  A nonsense mutation in the tyrosinase gene causes albinism in water buffalo.

Authors:  Maria Cecília Florisbal Damé; Gildenor Medeiros Xavier; José Paes Oliveira-Filho; Alexandre Secorun Borges; Henrique Nunes Oliveira; Franklin Riet-Correa; Ana Lucia Schild
Journal:  BMC Genet       Date:  2012-07-20       Impact factor: 2.797

9.  Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update.

Authors:  Abdullah Aamir; Helen J Kuht; Karen Grønskov; Brian P Brooks; Mervyn G Thomas
Journal:  Eur J Hum Genet       Date:  2021-01-27       Impact factor: 5.351

10.  Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.

Authors:  C C Kruijt; N E Schalij-Delfos; G C de Wit; R J Florijn; M M van Genderen
Journal:  Sci Rep       Date:  2021-06-02       Impact factor: 4.379
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