Tekin M - Search Results

1

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

2

Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey.

Tekin M, Duman T, Boğoçlu G, İncesulu A, Çomak E, Fitoz S, Yılmaz E, İlhan I, Akar N. Tekin M, et al. Eur J Pediatr. 2003 Mar;162(3):154-158. doi: 10.1007/s00431-002-1129-z. Epub 2003 Jan 21. Eur J Pediatr. 2003. PMID: 12655418

3

Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating.

Tekin M, Duman T, Boğoçlu G, Incesulu A, Comak E, Ilhan I, Akar N. Tekin M, et al. Hum Mutat. 2003 May;21(5):552-3. doi: 10.1002/humu.9137. Hum Mutat. 2003. PMID: 12673800

4

Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene.

Tekin M, Duman T, Boğoçlu G, Incesulu A, Cin S, Akar N. Tekin M, et al. Genet Couns. 2003;14(4):379-86. Genet Couns. 2003. PMID: 14738110 Review.

5

The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.

Tekin M, Kavaz A, Berberoğlu M, Fitoz S, Ekim M, Ocal G, Akar N. Tekin M, et al. Am J Med Genet A. 2004 Oct 15;130A(3):284-7. doi: 10.1002/ajmg.a.30291. Am J Med Genet A. 2004. PMID: 15378538 Review.

6

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

7

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

8

Alterations in the GJB3 and CLDN14 genes in families with nonsyndromic sensorineural hearing loss.

Arican ST, Incesulu A, Inceoglu B, Tekin M. Arican ST, et al. Among authors: tekin m. Genet Couns. 2005;16(3):309-11. Genet Couns. 2005. PMID: 16259330 No abstract available.

9

Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities.

Tekin M, Fitoz S, Arici S, Cetinkaya E, Incesulu A. Tekin M, et al. Int J Pediatr Otorhinolaryngol. 2006 May;70(5):885-9. doi: 10.1016/j.ijporl.2005.09.025. Epub 2005 Dec 2. Int J Pediatr Otorhinolaryngol. 2006. PMID: 16325926

10

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.

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