Results 101 to 110 of about 1,143,125 (138)

A novel variant c.1185_1196dup (p.(Gly396_Ser399dup)) in the SLC26A4 gene associated with recessive hearing loss. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Zytsar MV, Danilchenko VY, Bondar AA, Orishchenko KE, Posukh OL.   +4 more
europepmc   +1 more source

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

BMC Med Genet, 2013
Landa P, Differ AM, Rajput K, Jenkins L, Bitner-Glindzicz M.   +4 more
europepmc   +1 more source

Mutational spectrum of SLC26A4 and SLC26A5 associated with hereditary hearing loss in Moroccan families. [PDF]

Hum Genomics
Idyahia A, Redouane S, Chentoufi FE, Charoute H, El Hamouchi A, Benrahma H, Barakat A.   +6 more
europepmc   +1 more source

Efficient Endolymphatic Sac-Directed Gene Delivery Using AAV8BP2 and Posterior Semicircular Canal Injection. [PDF]

Int J Mol Sci
Kang M, Suh MJ, Gee HY, Chien WW, Jung J.   +4 more
europepmc   +1 more source

Dual ectopic thyroid located at the tongue base and left parapharyngeal space with transient congenital hypothyroidism. [PDF]

JCEM Case Rep
Kiuchi K, Kusano C, Hori N, Narumi S, Hasegawa T.   +4 more
europepmc   +1 more source

Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. [PDF]

J Mol Diagn, 2011
Chen N, Tranebjærg L, Rendtorff ND, Schrijver I.   +3 more
europepmc   +1 more source

Evaluation of the NHS R67 Monogenic Hearing Loss Panel in a Single UK Centre. [PDF]

Clin Otolaryngol
Sakin I, Swords C, Ball J, Oakley-Hannibal E, Cunniffe H, Holden S, Bance M, Bewick J.   +7 more
europepmc   +1 more source

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. [PDF]

BMC Med Genet, 2013
Ganaha A, Kaname T, Yanagi K, Naritomi K, Tono T, Usami S, Suzuki M.   +6 more
europepmc   +1 more source

Clinical utility of exome sequencing in hearing loss: a retrospective cohort study. [PDF]

Front Genet
Liu C, Huang Y, Fu A, Wang Y, Wu J, Zhang Y, Du L, Ding H, Yu L, Li F, Qi Y, Liu Y, Wang X, Zeng Y, Liu L, Xiong Y, Liu Y, Zhao X, Fang L, Jian J, Yin A, You Y.   +21 more
europepmc   +1 more source

Improvements in screening test, diagnosis, and outcomes of children with congenital hypothyroidism: lessons learned from 50 years of newborn screening. [PDF]

Endocrine
Salerno M, Vigone MC, Cassio A, Cavarzere P, Cherubini V, Faienza MF, Gastaldi R, Tuli G, Wasniewska M, Olivieri A.   +9 more
europepmc   +1 more source