Literature DB >> 10905897

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

S Saitoh, N Oiso, T Wada, O Narazaki, K Fukai.   

Abstract

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Year:  2000        PMID： 10905897      PMCID： PMC1734585          DOI： 10.1136/jmg.37.5.392

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  9 in total

1.  OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.

Authors:  Isao Yuasa; Kazuo Umetsu; Shinji Harihara; Aya Miyoshi; Naruya Saitou; Kyung Sook Park; Bumbein Dashnyam; Feng Jin; Gérard Lucotte; Prasanta K Chattopadhyay; Lotte Henke; Jürgen Henke
Journal:  J Hum Genet       Date:  2007-06-14       Impact factor: 3.172

2.  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

Review 3.  Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.

Authors:  Magella M Neveu; Srikanta Kumar Padhy; Srishti Ramamurthy; Brijesh Takkar; Subhadra Jalali; Deepika Cp; Tapas Ranjan Padhi; Anthony G Robson
Journal:  Clin Ophthalmol       Date:  2022-05-24

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

Review 5.  Angelman syndrome: a review of the clinical and genetic aspects.

Authors:  J Clayton-Smith; L Laan
Journal:  J Med Genet       Date:  2003-02       Impact factor: 6.318

Review 6.  Angelman syndrome: review of clinical and molecular aspects.

Authors:  Lynne M Bird
Journal:  Appl Clin Genet       Date:  2014-05-16

7.  Clinical and genetic variability in children with partial albinism.

Authors:  Patrick Campbell; Jamie M Ellingford; Neil R A Parry; Tracy Fletcher; Simon C Ramsden; Theodora Gale; Georgina Hall; Katherine Smith; Dalia Kasperaviciute; Ellen Thomas; I Chris Lloyd; Sofia Douzgou; Jill Clayton-Smith; Susmito Biswas; Jane L Ashworth; Graeme C M Black; Panagiotis I Sergouniotis
Journal:  Sci Rep       Date:  2019-11-12       Impact factor: 4.379

8.  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

9.  A new type of oculocutaneous albinism with a novel OCA2 mutation.

Authors:  Sang Yoon Lee; Eun Joo Lee; Jun Chul Byun; Kyung Mi Jang; Sae Yoon Kim; Su-Kyeong Hwang
Journal:  Yeungnam Univ J Med       Date:  2020-08-03
  9 in total

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