Tekin M - Search Results

1

Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.

Bademci G, Abad C, Cengiz FB, Seyhan S, Incesulu A, Guo S, Fitoz S, Atli EI, Gosstola NC, Demir S, Colbert BM, Seyhan GC, Sineni CJ, Duman D, Gurkan H, Morton CC, Dykxhoorn DM, Walz K, Tekin M. Bademci G, et al. Among authors: tekin m. J Clin Invest. 2020 Aug 3;130(8):4213-4217. doi: 10.1172/JCI136951. J Clin Invest. 2020. PMID: 32369452 Free PMC article.

2

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

3

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

4

Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes.

Hişmi BO, Yilmaz ST, Incesulu A, Tekin M. Hişmi BO, et al. Among authors: tekin m. Int J Pediatr Otorhinolaryngol. 2006 Oct;70(10):1687-94. doi: 10.1016/j.ijporl.2006.03.015. Epub 2006 May 19. Int J Pediatr Otorhinolaryngol. 2006. PMID: 16712961

5

SLC26A4 mutations are associated with a specific inner ear malformation.

Fitoz S, Sennaroğlu L, Incesulu A, Cengiz FB, Koç Y, Tekin M. Fitoz S, et al. Among authors: tekin m. Int J Pediatr Otorhinolaryngol. 2007 Mar;71(3):479-86. doi: 10.1016/j.ijporl.2006.11.022. Epub 2007 Jan 2. Int J Pediatr Otorhinolaryngol. 2007. PMID: 17197040

6

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.

7

Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene.

Tekin M, Cengiz FB, Ayberkin E, Kendirli T, Fitoz S, Tutar E, Ciftçi E, Conba A. Tekin M, et al. Am J Med Genet A. 2007 Apr 15;143A(8):875-80. doi: 10.1002/ajmg.a.31660. Am J Med Genet A. 2007. PMID: 17366579

8

Contrast-enhanced MR angiography of thoracic vascular malformations in children.

Fitoz S, Unsal N, Tekin M, Tutar E. Fitoz S, et al. Among authors: tekin m. Int J Cardiol. 2007 Dec 15;123(1):3-11. doi: 10.1016/j.ijcard.2006.12.042. Epub 2007 Mar 28. Int J Cardiol. 2007. PMID: 17395307

9

[Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing loss].

Cirçir YE, Incesulu A, Tekin M. Cirçir YE, et al. Among authors: tekin m. Kulak Burun Bogaz Ihtis Derg. 2007;17(2):75-80. Kulak Burun Bogaz Ihtis Derg. 2007. PMID: 17527057 Free article. Turkish.

10

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

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