Literature DB >> 33504991

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

Abdullah Aamir1, Helen J Kuht1, Karen Grønskov2, Brian P Brooks3, Mervyn G Thomas4.   

Abstract

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Year:  2021        PMID： 33504991      PMCID： PMC8484472          DOI： 10.1038/s41431-021-00809-w

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   5.351


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  35 in total

1.  Albinism in a patient with mutations at both the OA1 and OCA3 loci.

Authors:  Fanny Morice-Picard; Eulalie Lasseaux; Claudio Plaisant; Dorothée Cailley; Julie Bouron; Caroline Rooryck; Didier Lacombe; Valérie Pelletier; Dan Lipsker; Yaumara Perdomo-Trujillo; Hélène Dollfus; Benoit Arveiler
Journal:  Pigment Cell Melanoma Res       Date:  2015-10-24       Impact factor: 4.693

2.  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

3.  The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.

Authors:  William S Oetting; Jacy Pietsch; Marcia J Brott; Sarah Savage; James P Fryer; C Gail Summers; Richard A King
Journal:  Am J Med Genet A       Date:  2009-03       Impact factor: 2.802

4.  Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene.

Authors:  Solene Monfermé; Eulalie Lasseaux; Catherine Duncombe-Poulet; Christian Hamel; Sabine Defoort-Dhellemmes; Isabelle Drumare; Xavier Zanlonghi; Hélène Dollfus; Yaurama Perdomo; Dominique Bonneau; Jean-François Korobelnik; Claudio Plaisant; Vincent Michaud; Perrine Pennamen; Caroline Rooryck-Thambo; Fanny Morice-Picard; Clement Paya; Benoit Arveiler
Journal:  Br J Ophthalmol       Date:  2018-11-24       Impact factor: 4.638

5.  Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.

Authors:  Ai-Hua Wei; Dong-Jie Zang; Zhao Zhang; Xiu-Min Yang; Wei Li
Journal:  J Genet Genomics       Date:  2015-05-29       Impact factor: 4.275

6.  Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.

Authors:  Letizia Straniero; Valeria Rimoldi; Giulia Soldà; Lucia Mauri; Emanuela Manfredini; Elena Andreucci; Sara Bargiacchi; Silvana Penco; Giovanni P Gesu; Alessandra Del Longo; Elena Piozzi; Rosanna Asselta; Paola Primignani
Journal:  J Hum Genet       Date:  2015-05-28       Impact factor: 3.172

7.  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

8.  A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

Authors:  Karen Grønskov; Cathrine Jespersgaard; Gitte Hoffmann Bruun; Pernille Harris; Karen Brøndum-Nielsen; Brage S Andresen; Thomas Rosenberg
Journal:  Sci Rep       Date:  2019-01-24       Impact factor: 4.379

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.  SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.

Authors:  Helen J Kuht; Jinu Han; Gail D E Maconachie; Sung Eun Park; Seung-Tae Lee; Rebecca McLean; Viral Sheth; Michael Hisaund; Basu Dawar; Nicolas Sylvius; Usman Mahmood; Frank A Proudlock; Irene Gottlob; Hyun Taek Lim; Mervyn G Thomas
Journal:  Hum Mol Genet       Date:  2020-11-04       Impact factor: 6.150
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  1 in total

1.  Fond farewell to clinical utility gene cards.

Authors:  Alisdair McNeill
Journal:  Eur J Hum Genet       Date:  2021-10       Impact factor: 5.351
  1 in total

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