Literature DB >> 19533789

Oculocutaneous albinism spectrum.

Pei-Wen Chiang, Elaine Spector, Anne Chun-Hui Tsai.   

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Year:  2009        PMID： 19533789     DOI： 10.1002/ajmg.a.32939

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  10 in total

1.  Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.

Authors:  Libe Gradstein; Ronald M Hansen; Gerald F Cox; Pablo Altschwager; Anne B Fulton
Journal:  Doc Ophthalmol       Date:  2017-01-31       Impact factor: 2.379

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.  Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.

Authors:  Monika B Dolinska; Nicole J Kus; S Katie Farney; Paul T Wingfield; Brian P Brooks; Yuri V Sergeev
Journal:  Pigment Cell Melanoma Res       Date:  2017-01       Impact factor: 4.693

Review 4.  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

5.  Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

Authors:  Chelsea S Norman; Luke O'Gorman; Jane Gibson; Reuben J Pengelly; Diana Baralle; J Arjuna Ratnayaka; Helen Griffiths; Matthew Rose-Zerilli; Megan Ranger; David Bunyan; Helena Lee; Rhiannon Page; Tutte Newall; Fatima Shawkat; Christopher Mattocks; Daniel Ward; Sarah Ennis; Jay E Self
Journal:  Sci Rep       Date:  2017-06-30       Impact factor: 4.379

6.  Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).

Authors:  Siying Lin; Aida Sanchez-Bretaño; Joseph S Leslie; Katie B Williams; Helena Lee; N Simon Thomas; Jonathan Callaway; James Deline; J Arjuna Ratnayaka; Diana Baralle; Melanie A Schmitt; Chelsea S Norman; Sheri Hammond; Gaurav V Harlalka; Sarah Ennis; Harold E Cross; Olivia Wenger; Andrew H Crosby; Emma L Baple; Jay E Self
Journal:  NPJ Genom Med       Date:  2022-01-13       Impact factor: 6.083

Review 7.  Human pigmentation genes under environmental selection.

Authors:  Richard A Sturm; David L Duffy
Journal:  Genome Biol       Date:  2012-09-26       Impact factor: 13.583

8.  Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

Authors:  Vadieh Ghodsinejad Kalahroudi; Behnam Kamalidehghan; Ahoura Arasteh Kani; Omid Aryani; Mahdi Tondar; Fatemeh Ahmadipour; Lip Yong Chung; Massoud Houshmand
Journal:  PLoS One       Date:  2014-09-12       Impact factor: 3.240

9.  Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing.

Authors:  Mervyn G Thomas; Gail DE Maconachie; Viral Sheth; Rebecca J McLean; Irene Gottlob
Journal:  Eur J Hum Genet       Date:  2017-04-05       Impact factor: 4.246

10.  Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Authors:  Hwei Wuen Chan; Elena R Schiff; Vijay K Tailor; Samantha Malka; Magella M Neveu; Maria Theodorou; Mariya Moosajee
Journal:  Genes (Basel)       Date:  2021-03-30       Impact factor: 4.096
  10 in total

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