Tekin M - Search Results

1

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.

Sineni CJ, Yildirim-Baylan M, Guo S, Camarena V, Wang G, Tokgoz-Yilmaz S, Duman D, Bademci G, Tekin M. Sineni CJ, et al. Among authors: tekin m. Hum Genet. 2019 Oct;138(10):1071-1075. doi: 10.1007/s00439-019-02037-1. Epub 2019 Jun 7. Hum Genet. 2019. PMID: 31175426 Free PMC article.

2

Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.

Tekin M, Akar N, Cin S, Blanton SH, Xia XJ, Liu XZ, Nance WE, Pandya A. Tekin M, et al. Hum Genet. 2001 May;108(5):385-9. doi: 10.1007/s004390100507. Hum Genet. 2001. PMID: 11409864

3

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness.

Liu XZ, Xia XJ, Adams J, Chen ZY, Welch KO, Tekin M, Ouyang XM, Kristiansen A, Pandya A, Balkany T, Arnos KS, Nance WE. Liu XZ, et al. Among authors: tekin m. Hum Mol Genet. 2001 Dec 1;10(25):2945-51. doi: 10.1093/hmg/10.25.2945. Hum Mol Genet. 2001. PMID: 11741837

4

Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia.

Tekin M, Boğoclu G, Arican ST, Orman MN, Tastan H, Elsobky E, Elsayed S, Akar N. Tekin M, et al. Clin Genet. 2005 Jan;67(1):31-7. doi: 10.1111/j.1399-0004.2004.00334.x. Clin Genet. 2005. PMID: 15617546

5

A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.

Tekin M, Akcayoz D, Incesulu A. Tekin M, et al. Am J Med Genet A. 2005 Sep 15;138(1):6-10. doi: 10.1002/ajmg.a.30907. Am J Med Genet A. 2005. PMID: 16097006

6

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Among authors: tekin m. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.

7

Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.

Tekin M, Hişmi BO, Fitoz S, Ozdağ H, Cengiz FB, Sirmaci A, Aslan I, Inceoğlu B, Yüksel-Konuk EB, Yilmaz ST, Yasun O, Akar N. Tekin M, et al. Am J Hum Genet. 2007 Feb;80(2):338-44. doi: 10.1086/510920. Epub 2006 Dec 27. Am J Hum Genet. 2007. PMID: 17236138 Free PMC article.

8

Genetic epidemiological studies of congenital/prelingual deafness in Turkey: population structure and mating type are major determinants of mutation identification.

Tekin M, Arici ZS. Tekin M, et al. Am J Med Genet A. 2007 Jul 15;143A(14):1583-91. doi: 10.1002/ajmg.a.31702. Am J Med Genet A. 2007. PMID: 17444514

9

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

Tekin M, Oztürkmen Akay H, Fitoz S, Birnbaum S, Cengiz FB, Sennaroğlu L, Incesulu A, Yüksel Konuk EB, Hasanefendioğlu Bayrak A, Sentürk S, Cebeci I, Utine GE, Tunçbilek E, Nance WE, Duman D. Tekin M, et al. Clin Genet. 2008 Jun;73(6):554-65. doi: 10.1111/j.1399-0004.2008.01004.x. Epub 2008 Apr 22. Clin Genet. 2008. PMID: 18435799

10

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.

Sirmaci A, Duman D, Oztürkmen-Akay H, Erbek S, Incesulu A, Oztürk-Hişmi B, Arici ZS, Yüksel-Konuk EB, Taşir-Yilmaz S, Tokgöz-Yilmaz S, Cengiz FB, Aslan I, Yildirim M, Hasanefendioğlu-Bayrak A, Ayçiçek A, Yilmaz I, Fitoz S, Altin F, Ozdağ H, Tekin M. Sirmaci A, et al. Among authors: tekin m. Int J Pediatr Otorhinolaryngol. 2009 May;73(5):699-705. doi: 10.1016/j.ijporl.2009.01.005. Epub 2009 Feb 1. Int J Pediatr Otorhinolaryngol. 2009. PMID: 19187973

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