Literature DB >> 25572244

A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II.

Kimia Kahrizi1, Niloofar Bazazzadegan, Leila Jamali, Nooshin Nikzat, Atie Kashef, Hossein Najmabadi.   

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Year:  2014        PMID： 25572244     DOI： 10.1007/s12041-014-0443-3

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  17 in total

1.  Non-USH2A mutations in USH2 patients.

Authors:  Thomas Besnard; Christel Vaché; David Baux; Lise Larrieu; Caroline Abadie; Catherine Blanchet; Sylvie Odent; Patricia Blanchet; Patrick Calvas; Christian Hamel; Hélène Dollfus; Geneviève Lina-Granade; James Lespinasse; Albert David; Bertrand Isidor; Gilles Morin; Sue Malcolm; Sylvie Tuffery-Giraud; Mireille Claustres; Anne-Françoise Roux
Journal:  Hum Mutat       Date:  2012-01-06       Impact factor: 4.878

2.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

3.  Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

Authors:  M D Weston; J D Eudy; S Fujita; S Yao; S Usami; C Cremers; J Greenberg; R Ramesar; A Martini; C Moller; R J Smith; J Sumegi; W J Kimberling; J Greenburg
Journal:  Am J Hum Genet       Date:  2000-03-22       Impact factor: 11.025

4.  Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system.

Authors:  D Randy McMillan; Kathleen M Kayes-Wandover; James A Richardson; Perrin C White
Journal:  J Biol Chem       Date:  2001-10-17       Impact factor: 5.157

5.  Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.

Authors:  Mounira Hmani-Aifa; Zeineb Benzina; Fareeha Zulfiqar; Houria Dhouib; Amber Shahzadi; Abdelmonem Ghorbel; Ahmed Rebaï; Peter Söderkvist; Sheikh Riazuddin; William J Kimberling; Hammadi Ayadi
Journal:  Eur J Hum Genet       Date:  2008-10-15       Impact factor: 4.246

6.  A common protein interaction domain links two recently identified epilepsy genes.

Authors:  Hartmut Scheel; Stefan Tomiuk; Kay Hofmann
Journal:  Hum Mol Genet       Date:  2002-07-15       Impact factor: 6.150

7.  Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

Authors:  Erwin van Wijk; Ronald J E Pennings; Heleen te Brinke; Annemarie Claassen; Helger G Yntema; Lies H Hoefsloot; Frans P M Cremers; Cor W R J Cremers; Hannie Kremer
Journal:  Am J Hum Genet       Date:  2004-03-10       Impact factor: 11.025

8.  Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

Authors:  William J Kimberling; Michael S Hildebrand; A Eliot Shearer; Maren L Jensen; Jennifer A Halder; Karmen Trzupek; Edward S Cohn; Richard G Weleber; Edwin M Stone; Richard J H Smith
Journal:  Genet Med       Date:  2010-08       Impact factor: 8.822

9.  Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Authors:  Polona Le Quesne Stabej; Zubin Saihan; Nell Rangesh; Heather B Steele-Stallard; John Ambrose; Alison Coffey; Jenny Emmerson; Elene Haralambous; Yasmin Hughes; Karen P Steel; Linda M Luxon; Andrew R Webster; Maria Bitner-Glindzicz
Journal:  J Med Genet       Date:  2011-12-01       Impact factor: 6.318

10.  An update on the genetics of usher syndrome.

Authors:  José M Millán; Elena Aller; Teresa Jaijo; Fiona Blanco-Kelly; Ascensión Gimenez-Pardo; Carmen Ayuso
Journal:  J Ophthalmol       Date:  2010-12-23       Impact factor: 1.909
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  4 in total

1.  Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.

Authors:  Amale Bousfiha; Amina Bakhchane; Hicham Charoute; Mustapha Detsouli; Hassan Rouba; Majida Charif; Guy Lenaers; Abdelhamid Barakat
Journal:  Mol Biol Rep       Date:  2017-09-26       Impact factor: 2.316

Review 2.  Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.

Authors:  Maryam Beheshtian; Mojgan Babanejad; Hela Azaiez; Niloofar Bazazzadegan; Diana Kolbe; Christina Sloan-Heggen; Sanaz Arzhangi; Kevin Booth; Marzieh Mohseni; Kathy Frees; Mohammad Hossein Azizi; Ahmad Daneshi; Mohammad Farhadi; Kimia Kahrizi; Richard Jh Smith; Hossein Najmabadi
Journal:  Arch Iran Med       Date:  2016-10-01       Impact factor: 1.354

Review 3.  Review of Genotype-Phenotype Correlations in Usher Syndrome.

Authors:  Eric Nisenbaum; Torin P Thielhelm; Aida Nourbakhsh; Denise Yan; Susan H Blanton; Yilai Shu; Karl R Koehler; Aziz El-Amraoui; Zhengyi Chen; Byron L Lam; Xuezhong Liu
Journal:  Ear Hear       Date:  2022 Jan/Feb       Impact factor: 3.562

4.  Genome-Wide Association Studies Identify Candidate Genes for Coat Color and Mohair Traits in the Iranian Markhoz Goat.

Authors:  Anahit Nazari-Ghadikolaei; Hassan Mehrabani-Yeganeh; Seyed R Miarei-Aashtiani; Elizabeth A Staiger; Amir Rashidi; Heather J Huson
Journal:  Front Genet       Date:  2018-04-04       Impact factor: 4.599
  4 in total

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