Literature DB >> 24518832

Clinical utility gene card for: Oculocutaneous albinism.

Karen Grønskov1, Karen Brøndum-Nielsen1, Birgit Lorenz2, Markus N Preising2.   

Abstract

Mesh：

Year:  2014        PMID： 24518832      PMCID： PMC4350605          DOI： 10.1038/ejhg.2013.307

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  15 in total

1.  Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

Authors:  Karen Grønskov; Jakob Ek; Annie Sand; Rudolf Scheller; Anette Bygum; Kim Brixen; Karen Brondum-Nielsen; Thomas Rosenberg
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-12-05       Impact factor: 4.799

2.  Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.

Authors:  W S Oetting; M M Mentink; C G Summers; R A Lewis; J G White; R A King
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

3.  Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).

Authors:  S T Lee; R D Nicholls; R E Schnur; L C Guida; J Lu-Kuo; N B Spinner; E H Zackai; R A Spritz
Journal:  Hum Mol Genet       Date:  1994-11       Impact factor: 6.150

4.  Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings.

Authors:  M Mondal; M Sengupta; S Samanta; A Sil; K Ray
Journal:  Gene       Date:  2012-09-23       Impact factor: 3.688

5.  Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.

Authors:  Caroline Rooryck; Christel Roudaut; Eulalie Robine; Jörg Müsebeck; Benoît Arveiler
Journal:  Pigment Cell Res       Date:  2006-06

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

Authors:  Karen Grønskov; Christopher M Dooley; Elsebet Østergaard; Robert N Kelsh; Lars Hansen; Mitchell P Levesque; Kaj Vilhelmsen; Kjeld Møllgård; Derek L Stemple; Thomas Rosenberg
Journal:  Am J Hum Genet       Date:  2013-02-07       Impact factor: 11.025

Review 7.  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

8.  A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

Authors:  Saunie M Hutton; Richard A Spritz
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-03       Impact factor: 4.799

Review 9.  Oculocutaneous albinism.

Authors:  Karen Grønskov; Jakob Ek; Karen Brondum-Nielsen
Journal:  Orphanet J Rare Dis       Date:  2007-11-02       Impact factor: 4.123

10.  Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.

Authors:  Uta Rundshagen; Christine Zühlke; Sven Opitz; Eberhard Schwinger; Barbara Käsmann-Kellner
Journal:  Hum Mutat       Date:  2004-02       Impact factor: 4.878
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  4 in total

1.  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

2.  Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity.

Authors:  Bum-Ho Bin; Jinhyuk Bhin; Seung Ha Yang; Misun Shin; Yeon-Ju Nam; Dong-Hwa Choi; Dong Wook Shin; Ai-Young Lee; Daehee Hwang; Eun-Gyung Cho; Tae Ryong Lee
Journal:  PLoS One       Date:  2015-06-09       Impact factor: 3.240

3.  Mutation analysis of a Chinese family with oculocutaneous albinism.

Authors:  Xiong Wang; Yaowu Zhu; Na Shen; Jing Peng; Chunyu Wang; Haiyi Liu; Yanjun Lu
Journal:  Oncotarget       Date:  2016-12-20

4.  Determining the Topic Evolution and Sentiment Polarity for Albinism in a Chinese Online Health Community: Machine Learning and Social Network Analysis.

Authors:  Qiqing Bi; Lining Shen; Richard Evans; Zhiguo Zhang; Shimin Wang; Wei Dai; Cui Liu
Journal:  JMIR Med Inform       Date:  2020-05-29
  4 in total

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