Literature DB >> 23336812

SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.

N D Rendtorff1, I Schrijver, M Lodahl, J Rodriguez-Paris, T Johnsen, E C Hansén, L A A Nickelsen, Z Tümer, T Fagerheim, R Wetke, L Tranebjaerg.   

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Year:  2013        PMID： 23336812     DOI： 10.1111/cge.12074

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


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  10 in total

1.  A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.

Authors:  Parna Chattaraj; Tina Munjal; Keiji Honda; Nanna D Rendtorff; Jessica S Ratay; Julie A Muskett; Davide S Risso; Isabelle Roux; E Michael Gertz; Alejandro A Schäffer; Thomas B Friedman; Robert J Morell; Lisbeth Tranebjærg; Andrew J Griffith
Journal:  J Med Genet       Date:  2017-08-05       Impact factor: 6.318

2.  A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.

Authors:  Junzhen Zhu; Qinying Cao; Ning Zhang; Jun Ge; Donglan Sun; Qingqi Feng
Journal:  Intractable Rare Dis Res       Date:  2015-08

3.  Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

Authors:  Filiz Basak Cengiz; Rasim Yilmazer; Levent Olgun; Levent Sennaroglu; Tayfun Kirazli; Hudaver Alper; Yuksel Olgun; Armagan Incesulu; Tahir Atik; Fabiola Huesca-Hernandez; Juan Domínguez-Aburto; Garly González-Rosado; Edgar Hernandez-Zamora; Maria de la Luz Arenas-Sordo; Ibis Menendez; Kadir Serkan Orhan; Hakan Avci; Nejat Mahdieh; Mortaza Bonyadi; Joseph Foster; Duygu Duman; Ferda Ozkinay; Susan H Blanton; Guney Bademci; Mustafa Tekin
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2017-08-08       Impact factor: 1.675

4.  Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.

Authors:  Fatima Ammar-Khodja; Crystel Bonnet; Malika Dahmani; Sofiane Ouhab; Gaelle M Lefèvre; Hassina Ibrahim; Jean-Pierre Hardelin; Dominique Weil; Malek Louha; Christine Petit
Journal:  Mol Genet Genomic Med       Date:  2015-02-15       Impact factor: 2.183

5.  Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss.

Authors:  Lynn M Pique; Marie-Luise Brennan; Colin J Davidson; Frederick Schaefer; John Greinwald; Iris Schrijver
Journal:  PeerJ       Date:  2014-05-08       Impact factor: 2.984

6.  Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

Authors:  Renata Watanabe Nonose; Karina Lezirovitz; Maria Teresa Balester de Mello Auricchio; Ana Carla Batissoco; Guilherme Lopes Yamamoto; Regina Célia Mingroni-Netto
Journal:  BMC Med Genet       Date:  2018-05-08       Impact factor: 2.103

7.  Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India.

Authors:  Jayasankaran Chandru; Justin Margret Jeffrey; Amritkumar Pavithra; S Paridhy Vanniya; G Nandhini Devi; Subathra Mahalingam; Natarajan Padmavathy Karthikeyen; C R Srikumari Srisailapathy
Journal:  Eur Arch Otorhinolaryngol       Date:  2020-05-16       Impact factor: 2.503

8.  Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.

Authors:  Priya Landa; Ann-Marie Differ; Kaukab Rajput; Lucy Jenkins; Maria Bitner-Glindzicz
Journal:  BMC Med Genet       Date:  2013-08-21       Impact factor: 2.103

9.  Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.

Authors:  Feng Xin; Yongyi Yuan; Xiaoming Deng; Mingyu Han; Guojian Wang; Jiandong Zhao; Xue Gao; Jun Liu; Fei Yu; Dongyi Han; Pu Dai
Journal:  J Transl Med       Date:  2013-12-17       Impact factor: 5.531

10.  Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.

Authors:  Chen-Chi Wu; Cheng-Yu Tsai; Yi-Hsin Lin; Pey-Yu Chen; Pei-Hsuan Lin; Yen-Fu Cheng; Che-Ming Wu; Yin-Hung Lin; Chee-Yee Lee; Jargalkhuu Erdenechuluun; Tien-Chen Liu; Pei-Lung Chen; Chuan-Jen Hsu
Journal:  Genes (Basel)       Date:  2019-10-01       Impact factor: 4.096
  10 in total

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