Tekin M - Search Results

1

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

2

Ophthalmo-acromelic syndrome: report and review.

Tekin M, Tutar E, Arsan S, Atay G, Bodurtha J. Tekin M, et al. Am J Med Genet. 2000 Jan 17;90(2):150-4. doi: 10.1002/(sici)1096-8628(20000117)90:2<150::aid-ajmg12>3.0.co;2-c. Am J Med Genet. 2000. PMID: 10607955 Review.

3

MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis?

Tekin M, Yalçinkaya F, Cakar N, Akar N, Misirlioğlu M, Taştan H, Tümer N. Tekin M, et al. Clin Genet. 2000 Jun;57(6):430-4. doi: 10.1034/j.1399-0004.2000.570605.x. Clin Genet. 2000. PMID: 10905662

4

W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness.

Tekin M, Arnos KS, Xia XJ, Oelrich MK, Liu XZ, Nance WE, Pandya A. Tekin M, et al. Clin Genet. 2001 Apr;59(4):269-73. doi: 10.1034/j.1399-0004.2001.590409.x. Clin Genet. 2001. PMID: 11298683

5

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

6

657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family.

Tekin M, Doğu F, Taçyíldiz N, Akar E, Ikincioğullari A, Oğur G, Yavuz G, Babacan E, Akar N. Tekin M, et al. Clin Genet. 2002 Jul;62(1):84-8. doi: 10.1034/j.1399-0004.2002.620112.x. Clin Genet. 2002. PMID: 12123493

7

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

8

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

9

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.

Tekin M, Akçayöz D, Comak E, Boğoçlu G, Duman T, Fitoz S, Ilhan I, Akar N. Tekin M, et al. Clin Genet. 2003 Oct;64(4):371-4. doi: 10.1034/j.1399-0004.2003.00144.x. Clin Genet. 2003. PMID: 12974744 No abstract available.

10

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.

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