Literature DB >> 15994881

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

F J del Castillo, M Rodríguez-Ballesteros, A Alvarez, T Hutchin, E Leonardi, C A de Oliveira, H Azaiez, Z Brownstein, M R Avenarius, S Marlin, A Pandya, H Shahin, K R Siemering, D Weil, W Wuyts, L A Aguirre, Y Martín, M A Moreno-Pelayo, M Villamar, K B Avraham, H-H M Dahl, M Kanaan, W E Nance, C Petit, R J H Smith, G Van Camp, E L Sartorato, A Murgia, F Moreno, I del Castillo.   

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Year:  2005        PMID： 15994881      PMCID： PMC1736094          DOI： 10.1136/jmg.2004.028324

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  99 in total

1.  A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.

Authors:  Juan R González; Wenyi Wang; Ester Ballana; Xavier Estivill
Journal:  Hum Mutat       Date:  2006-11       Impact factor: 4.878

2.  Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.

Authors:  Michael Lipan; Xiaomei Ouyang; Denise Yan; Simon Angeli; Li Lin Du; Xue-Zhong Liu
Journal:  Laryngoscope       Date:  2011-02-01       Impact factor: 3.325

3.  Infrequency of two deletion mutations at the DFNB1 locus in patients and controls.

Authors:  Hsiao-Yuan Tang; Monica J Basehore; Gregory L Blakey; Sandra Darilek; John S Oghalai; Benjamin B Roa; Ping Fang; Raye Lynn Alford
Journal:  Am J Med Genet A       Date:  2008-04-01       Impact factor: 2.802

4.  Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).

Authors:  Tao Yang; Hilmar Vidarsson; Sandra Rodrigo-Blomqvist; Sally S Rosengren; Sven Enerback; Richard J H Smith
Journal:  Am J Hum Genet       Date:  2007-04-23       Impact factor: 11.025

5.  GJB2 mutations in Baluchi population.

Authors:  Anoosh Naghavi; Carla Nishimura; Kimia Kahrizi; Yasser Riazalhosseini; Niloofar Bazazzadegan; Marzieh Mohseni; Richard J H Smith; Hossein Najmabadi
Journal:  J Genet       Date:  2008-08       Impact factor: 1.166

6.  [Hereditary hearing loss: Part 1: diagnostic overview and practical advice].

Authors:  W F Burke; T Lenarz; H Maier
Journal:  HNO       Date:  2013-04       Impact factor: 1.284

7.  Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.

Authors:  Margaret A Kenna; Henry A Feldman; Marilyn W Neault; Anna Frangulov; Bai-Lin Wu; Brian Fligor; Heidi L Rehm
Journal:  Arch Otolaryngol Head Neck Surg       Date:  2010-01

Review 8.  Function and expression pattern of nonsyndromic deafness genes.

Authors:  Nele Hilgert; Richard J H Smith; Guy Van Camp
Journal:  Curr Mol Med       Date:  2009-06       Impact factor: 2.222

9.  Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.

Authors:  Xue-Zhong Liu; Yongyi Yuan; Denise Yan; Emilie Hong Ding; Xiao Mei Ouyang; Yu Fei; Wenxue Tang; Huijun Yuan; Qing Chang; Li Lin Du; Xin Zhang; Guojian Wang; Shoeb Ahmad; Dong Yang Kang; Xi Lin; Pu Dai
Journal:  Hum Genet       Date:  2008-12-03       Impact factor: 4.132

10.  Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

Authors:  Yongyi Yuan; Yiwen You; Deliang Huang; Jinghong Cui; Yong Wang; Qiang Wang; Fei Yu; Dongyang Kang; Huijun Yuan; Dongyi Han; Pu Dai
Journal:  J Transl Med       Date:  2009-09-10       Impact factor: 5.531
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