Literature DB >> 17718865

Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families.

M Hashemzadeh Chaleshtori, M A Simpson, E Farrokhi, M Dolati, L Hoghooghi Rad, S Amani Geshnigani, A H Crosby.   

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Year:  2007        PMID： 17718865     DOI： 10.1111/j.1399-0004.2007.00852.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  14 in total

Review 1.  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

2.  A p.C343S missense mutation in PJVK causes progressive hearing loss.

Authors:  Ghulam Mujtaba; Ihtisham Bukhari; Amara Fatima; Sadaf Naz
Journal:  Gene       Date:  2012-05-14       Impact factor: 3.688

Review 3.  Auditory neuropathy--neural and synaptic mechanisms.

Authors:  Tobias Moser; Arnold Starr
Journal:  Nat Rev Neurol       Date:  2016-02-19       Impact factor: 42.937

Review 4.  [Update on physiology and pathophysiology of the inner ear: pathomechanisms of sensorineural hearing loss].

Authors:  N Strenzke; D Pauli-Magnus; A Meyer; A Brandt; H Maier; T Moser
Journal:  HNO       Date:  2008-01       Impact factor: 1.284

5.  Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.

Authors:  Christopher Beck; Jose Carmelo Pérez-Álvarez; Alexander Sigruener; Frank Haubner; Till Seidler; Charalampos Aslanidis; Jürgen Strutz; Gerd Schmitz
Journal:  Eur Arch Otorhinolaryngol       Date:  2014-09-12       Impact factor: 2.503

Review 6.  Autosomal recessive nonsyndromic deafness genes: a review.

Authors:  Duygu Duman; Mustafa Tekin
Journal:  Front Biosci (Landmark Ed)       Date:  2012-06-01

7.  Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.

Authors:  Jian Wang; Ying-ying Fan; Shu-juan Wang; Peng-Fei Liang; Jin-ling Wang; Jian-hua Qiu
Journal:  PLoS One       Date:  2011-09-15       Impact factor: 3.240

8.  Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.

Authors:  Chen-Chi Wu; Yin-Hung Lin; Tien-Chen Liu; Kai-Nan Lin; Wei-Shiung Yang; Chuan-Jen Hsu; Pei-Lung Chen; Che-Ming Wu
Journal:  Medicine (Baltimore)       Date:  2015-07       Impact factor: 1.889

9.  Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss.

Authors:  Ma Tabatabaiefar; F Alasti; M Montazer Zohour; L Shariati; E Farrokhi; Dd Farhud; Gv Camp; Mr Noori-Daloii; M Hashemzadeh Chaleshtori
Journal:  Iran J Public Health       Date:  2011-06-30       Impact factor: 1.429

10.  EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.

Authors:  Malika Dahmani; Fatima Ammar-Khodja; Crystel Bonnet; Gaelle M Lefèvre; Jean-Pierre Hardelin; Hassina Ibrahim; Zahia Mallek; Christine Petit
Journal:  Orphanet J Rare Dis       Date:  2015-08-19       Impact factor: 4.123
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