Literature DB >> 15996220

Analysis of GJB2 mutation: evidence for a Mediterranean ancestor for the 35delG mutation.

H Belguith, S Hajji, N Salem, I Charfeddine, I Lahmar, M B Amor, K Ouldim, E Chouery, N Driss, M Drira, A Mégarbané, A Rebai, A Sefiani, S Masmoudi, H Ayadi.   

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Year:  2005        PMID： 15996220     DOI： 10.1111/j.1399-0004.2005.00474.x

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


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  9 in total

1.  Haplotype Diversity and Reconstruction of Ancestral Haplotype Associated with the c.35delG Mutation in the GJB2 (Cx26) Gene among the Volgo-Ural Populations of Russia.

Authors:  L U Dzhemileva; O L Posukh; N A Barashkov; S A Fedorova; F M Teryutin; V L Akhmetova; I M Khidiyatova; R I Khusainova; S L Lobov; E K Khusnutdinova
Journal:  Acta Naturae       Date:  2011-07       Impact factor: 1.845

2.  Did the GJB2 35delG mutation originate in Iran?

Authors:  Vahideh Norouzi; Hiva Azizi; Zohreh Fattahi; Fatemehsadat Esteghamat; Niloofar Bazazzadegan; Carla Nishimura; Nooshin Nikzat; Khadijeh Jalalvand; Kimia Kahrizi; Richard J H Smith; Hossein Najmabadi
Journal:  Am J Med Genet A       Date:  2011-09-09       Impact factor: 2.802

3.  High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.

Authors:  Mariem Ben Saïd; Mounira Hmani-Aifa; Imen Amar; Shahid Mahmood Baig; Mirna Mustapha; Sedigheh Delmaghani; Abdelaziz Tlili; Abdelmonem Ghorbel; Hammadi Ayadi; Guy Van Camp; Richard J H Smith; Mustafa Tekin; Saber Masmoudi
Journal:  Genet Test Mol Biomarkers       Date:  2010-06

4.  The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.

Authors:  N Skordis; V Neocleous; A Kyriakou; E Efstathiou; A Sertedaki; P Philibert; L A Phylactou; S Lumbroso; C Sultan
Journal:  J Endocrinol Invest       Date:  2010-05-28       Impact factor: 4.256

5.  High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect.

Authors:  Marina V Zytsar; Marita S Bady-Khoo; Valeriia Yu Danilchenko; Ekaterina A Maslova; Nikolay A Barashkov; Igor V Morozov; Alexander A Bondar; Olga L Posukh
Journal:  Genes (Basel)       Date:  2020-07-21       Impact factor: 4.096

6.  Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.

Authors:  Mohamed Ali Mosrati; Karima Fadhlaoui-Zid; Amel Benammar-Elgaaied; Abdullah Ahmed Gibriel; Mariem Ben Said; Saber Masmoudi
Journal:  Mol Genet Genomic Med       Date:  2021-09-13       Impact factor: 2.183

Review 7.  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

8.  Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Authors:  Lilia Romdhane; Rym Kefi; Hela Azaiez; Nizar Ben Halim; Koussay Dellagi; Sonia Abdelhak
Journal:  Orphanet J Rare Dis       Date:  2012-08-21       Impact factor: 4.123

9.  Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia.

Authors:  Marina V Zytsar; Nikolay A Barashkov; Marita S Bady-Khoo; Olga A Shubina-Olejnik; Nina G Danilenko; Alexander A Bondar; Igor V Morozov; Aisen V Solovyev; Valeriia Yu Danilchenko; Vladimir N Maximov; Olga L Posukh
Journal:  BMC Med Genet       Date:  2018-08-07       Impact factor: 2.103
  9 in total

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