Literature DB >> 12974744

Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.

M Tekin, D Akçayöz, E Comak, G Boğoçlu, T Duman, S Fitoz, I Ilhan, N Akar.   

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Year:  2003        PMID: 12974744     DOI: 10.1034/j.1399-0004.2003.00144.x

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


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  5 in total

1.  Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression.

Authors:  Philine Wangemann; Hyoung-Mi Kim; Sara Billings; Kazuhiro Nakaya; Xiangming Li; Ruchira Singh; David S Sharlin; Douglas Forrest; Daniel C Marcus; Peying Fong
Journal:  Am J Physiol Renal Physiol       Date:  2009-08-19

2.  SLC26A4 mutations in patients with moderate to severe hearing loss.

Authors:  Muhammad Riaz Khan; Rasheeda Bashir; Sadaf Naz
Journal:  Biochem Genet       Date:  2013-03-17       Impact factor: 1.890

3.  SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct.

Authors:  Jiandong Zhao; Yongyi Yuan; Jing Chen; Shasha Huang; Guojian Wang; Dongyi Han; Pu Dai
Journal:  J Transl Med       Date:  2012-05-02       Impact factor: 5.531

Review 4.  Genetic factors that might lead to different responses in individuals exposed to perchlorate.

Authors:  Franco Scinicariello; H Edward Murray; Lester Smith; Sharon Wilbur; Bruce A Fowler
Journal:  Environ Health Perspect       Date:  2005-11       Impact factor: 9.031

5.  Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

Authors:  Tom Walsh; Amal Abu Rayan; Judeh Abu Sa'ed; Hashem Shahin; Jeanne Shepshelovich; Ming K Lee; Koret Hirschberg; Mustafa Tekin; Wa'el Salhab; Karen B Avraham; Mary-Claire King; Moien Kanaan
Journal:  Hum Genomics       Date:  2006-01       Impact factor: 4.639

  5 in total

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