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Literature DB >> 33633368

Clinical utility gene card for FRMD7-related infantile nystagmus.

Basu Dawar¹, Helen J Kuht¹, Jinu Han², Gail D E Maconachie^1,3, Mervyn G Thomas⁴.

Abstract

Entities: Chemical

Mesh：

Substances：

Year: 2021 PMID： 33633368 PMCID： PMC8484540 DOI： 10.1038/s41431-021-00826-9

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

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22 in total

1. Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.

Authors: Jae-Hwan Choi; Jae-Ho Jung; Eun Hye Oh; Jin-Hong Shin; Hyang-Sook Kim; Je Hyun Seo; Seo Young Choi; Min-Ji Kim; Hee Young Choi; Changwook Lee; Kwang-Dong Choi
Journal: Invest Ophthalmol Vis Sci Date: 2018-06-01 Impact factor: 4.799

2. Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.

Authors: Uppala Radhakrishna; Uppala Ratnamala; Samuel Deutsch; Lucia Bartoloni; Murali R Kuracha; Raminder Singh; Jasjit Banwait; Dhundy K Bastola; Kaid Johar; Swapan K Nath; Stylianos E Antonarakis
Journal: Eur J Hum Genet Date: 2012-04-11 Impact factor: 4.246

3. Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.

Authors: Basamat AlMoallem; Miriam Bauwens; Sophie Walraedt; Patricia Delbeke; Julie De Zaeytijd; Philippe Kestelyn; Françoise Meire; Sandra Janssens; Caroline van Cauwenbergh; Hannah Verdin; Sally Hooghe; Prasoon Kumar Thakur; Frauke Coppieters; Kim De Leeneer; Koenraad Devriendt; Bart P Leroy; Elfride De Baere
Journal: Invest Ophthalmol Vis Sci Date: 2015-02-12 Impact factor: 4.799

4. Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.

Authors: Baorong Zhang; Zhirong Liu; Guohua Zhao; Xin Xie; Xinzhen Yin; Zhengmao Hu; Shanhu Xu; Qian Li; Fei Song; Jun Tian; Wei Luo; Meiping Ding; Jinfu Yin; Kun Xia; Jiahui Xia
Journal: Mol Vis Date: 2007-09-13 Impact factor: 2.367

5. Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.

Authors: Daniel F Schorderet; Leila Tiab; Marie-Claire Gaillard; Birgit Lorenz; Georges Klainguti; John B Kerrison; Elias I Traboulsi; Francis L Munier
Journal: Hum Mutat Date: 2007-05 Impact factor: 4.878

6. Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.

Authors: Shery Thomas; Frank A Proudlock; Nagini Sarvananthan; Eryl O Roberts; Musarat Awan; Rebecca McLean; Mylvaganam Surendran; A S Anil Kumar; Shegufta J Farooq; Chris Degg; Richard P Gale; Robert D Reinecke; Geoffrey Woodruff; Andrea Langmann; Susanne Lindner; Sunila Jain; Patrick Tarpey; F Lucy Raymond; Irene Gottlob
Journal: Brain Date: 2008-03-27 Impact factor: 13.501

7. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

Authors: Patrick Tarpey; Shery Thomas; Nagini Sarvananthan; Uma Mallya; Steven Lisgo; Chris J Talbot; Eryl O Roberts; Musarat Awan; Mylvaganam Surendran; Rebecca J McLean; Robert D Reinecke; Andrea Langmann; Susanne Lindner; Martina Koch; Sunila Jain; Geoffrey Woodruff; Richard P Gale; Andrew Bastawrous; Chris Degg; Konstantinos Droutsas; Ioannis Asproudis; Alina A Zubcov; Christina Pieh; Colin D Veal; Rajiv D Machado; Oliver C Backhouse; Laura Baumber; Cris S Constantinescu; Michael C Brodsky; David G Hunter; Richard W Hertle; Randy J Read; Sarah Edkins; Sarah O'Meara; Adrian Parker; Claire Stevens; Jon Teague; Richard Wooster; P Andrew Futreal; Richard C Trembath; Michael R Stratton; F Lucy Raymond; Irene Gottlob
Journal: Nat Genet Date: 2006-10-01 Impact factor: 38.330

Clinical utility gene card for FRMD7-related infantile nystagmus.

1. Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.

2. Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.

3. Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.

4. Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.

5. Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.

6. Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.

7. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

8. A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family.

9. A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.

10. A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

1. Fond farewell to clinical utility gene cards.

2. Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.

3. TUBB3 M323V Syndrome Presents with Infantile Nystagmus.