Literature DB >> 11391666

From DFNB2 to Usher syndrome: variable expressivity of the same disease.

Z B Zina, S Masmoudi, H Ayadi, F Chaker, A M Ghorbel, M Drira, C Petit.   

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Year:  2001        PMID： 11391666     DOI： 10.1002/ajmg.1335

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  16 in total

1.  Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.

Authors:  M S Hildebrand; N P Thorne; C J Bromhead; K Kahrizi; J A Webster; Z Fattahi; M Bataejad; W J Kimberling; D Stephan; H Najmabadi; M Bahlo; R J H Smith
Journal:  Clin Genet       Date:  2010-02-04       Impact factor: 4.438

2.  Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.

Authors:  Imen Ben Rebeh; Madeleine Morinière; Leila Ayadi; Zeineb Benzina; Ilhem Charfedine; Jamel Feki; Hammadi Ayadi; Abdelmonem Ghorbel; Faouzi Baklouti; Saber Masmoudi
Journal:  Mol Vis       Date:  2010-09-30       Impact factor: 2.367

3.  Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.

Authors:  Salma Ben-Salem; Heidi L Rehm; Patrick J Willems; Zakaria A Tamimi; Hammadi Ayadi; Bassam R Ali; Lihadh Al-Gazali
Journal:  Mol Biol Rep       Date:  2013-11-06       Impact factor: 2.316

4.  Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

Authors:  Mirjam W J Luijendijk; Erwin Van Wijk; Anne M L C Bischoff; Elmar Krieger; Patrick L M Huygen; Ronald J E Pennings; Han G Brunner; Cor W R J Cremers; Frans P M Cremers; Hannie Kremer
Journal:  Hum Genet       Date:  2004-06-02       Impact factor: 4.132

5.  Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family.

Authors:  Wei Zhai; Xin Jin; Yan Gong; Ling-Hui Qu; Chen Zhao; Zhao-Hui Li
Journal:  Int J Ophthalmol       Date:  2015-08-18       Impact factor: 1.779

Review 6.  Atypical and ultra-rare Usher syndrome: a review.

Authors:  Rosalie M Nolen; Robert B Hufnagel; Thomas B Friedman; Amy E Turriff; Carmen C Brewer; Christopher K Zalewski; Kelly A King; Talah T Wafa; Andrew J Griffith; Brian P Brooks; Wadih M Zein
Journal:  Ophthalmic Genet       Date:  2020-05-06       Impact factor: 1.803

Review 7.  The genetic bases for non-syndromic hearing loss among Chinese.

Authors:  Xiao Mei Ouyang; Denise Yan; Hui Jun Yuan; Dai Pu; Li Lin Du; Don Yi Han; Xue Zhong Liu
Journal:  J Hum Genet       Date:  2009-02-06       Impact factor: 3.172

Review 8.  Autosomal recessive nonsyndromic deafness genes: a review.

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

9.  Genetic screening revealed usher syndrome in a paediatric Chinese patient.

Authors:  Chunyan Qu; Fenghe Liang; Qin Long; Min Zhao; Haiqiong Shang; Lynn Fan; Li Wang; Joseph Foster; Denise Yan; Xuezhong Liu
Journal:  Hearing Balance Commun       Date:  2017-05-04

Review 10.  Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.

Authors:  Amal Souissi; Abdullah A Gibriel; Saber Masmoudi
Journal:  Hum Genet       Date:  2021-07-15       Impact factor: 4.132
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