Literature DB >> 8723691

Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans.

D Durham-Pierre1, R A King, J M Naber, S Laken, M H Brilliant.   

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Year:  1996        PMID： 8723691     DOI： 10.1002/(SICI)1098-1004(1996)7:4<370::AID-HUMU15>3.0.CO;2-#

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  9 in total

Review 1.  Sequences associated with human iris pigmentation.

Authors:  Tony Frudakis; Matthew Thomas; Zach Gaskin; K Venkateswarlu; K Suresh Chandra; Siva Ginjupalli; Sitaram Gunturi; Sivamani Natrajan; Viswanathan K Ponnuswamy; K N Ponnuswamy
Journal:  Genetics       Date:  2003-12       Impact factor: 4.562

2.  Oculocutaneous albinism in an isolated Tonga community in Zimbabwe.

Authors:  P M Lund; N Puri; D Durham-Pierre; R A King; M H Brilliant
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

3.  Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.

Authors:  Robert Aquaron; Nadem Soufir; Jean-Louis Bergé-Lefranc; Catherine Badens; Frederic Austerlitz; Bernard Grandchamp
Journal:  J Hum Genet       Date:  2007-09-01       Impact factor: 3.172

4.  Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.

Authors:  Pedro J Santiago Borrero; Yolanda Rodríguez-Pérez; Jessicca Y Renta; Natalio J Izquierdo; Laura Del Fierro; Daniel Muñoz; Norma López Molina; Sonia Ramírez; Glorivee Pagán-Mercado; Idith Ortíz; Enid Rivera-Caragol; Richard A Spritz; Carmen L Cadilla
Journal:  J Invest Dermatol       Date:  2006-01       Impact factor: 8.551

5.  Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

Authors:  Javier Jardón; Natalio J Izquierdo; Jessica Y Renta; Omar García-Rodríguez; Carmen L Cadilla
Journal:  Ophthalmic Genet       Date:  2014-04-28       Impact factor: 1.803

6.  Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism.

Authors:  Prashiela Manga; Seth J Orlow
Journal:  J Clin Invest       Date:  2011-10       Impact factor: 14.808

7.  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

8.  Multilocus OCA2 genotypes specify human iris colors.

Authors:  Tony Frudakis; Timothy Terravainen; Matthew Thomas
Journal:  Hum Genet       Date:  2007-07-07       Impact factor: 4.132

9.  Albinism and developmental delay: the need to test for 15q11-q13 deletion.

Authors:  Reem Saadeh; Emily C Lisi; Denise A S Batista; Iain McIntosh; Julie E Hoover-Fong
Journal:  Pediatr Neurol       Date:  2007-10       Impact factor: 3.372
  9 in total

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