Tekin M - Search Results

1

Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss.

Li C, Bademci G, Subasioglu A, Diaz-Horta O, Zhu Y, Liu J, Mitchell TG, Abad C, Seyhan S, Duman D, Cengiz FB, Tokgoz-Yilmaz S, Blanton SH, Farooq A, Walz K, Zhai RG, Tekin M. Li C, et al. Among authors: tekin m. Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1347-1352. doi: 10.1073/pnas.1810951116. Epub 2019 Jan 4. Proc Natl Acad Sci U S A. 2019. PMID: 30610177 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

Chudley-McCullough syndrome: expanded phenotype and review of the literature.

Welch KO, Tekin M, Nance WE, Blanton SH, Arnos KS, Pandya A. Welch KO, et al. Among authors: tekin m. Am J Med Genet A. 2003 May 15;119A(1):71-6. doi: 10.1002/ajmg.a.10180. Am J Med Genet A. 2003. PMID: 12707963

4

Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients.

Ozçakar ZB, Cengiz FB, Cakar N, Uncu N, Kara N, Acar B, Yüksel S, Ekim M, Tekin M, Yalçinkaya F. Ozçakar ZB, et al. Among authors: tekin m. Pediatr Nephrol. 2006 Aug;21(8):1093-6. doi: 10.1007/s00467-006-0116-4. Epub 2006 Jun 30. Pediatr Nephrol. 2006. PMID: 16810518

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

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

9

A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart.

Arnos KS, Welch KO, Tekin M, Norris VW, Blanton SH, Pandya A, Nance WE. Arnos KS, et al. Among authors: tekin m. Am J Hum Genet. 2008 Aug;83(2):200-7. doi: 10.1016/j.ajhg.2008.07.001. Epub 2008 Jul 24. Am J Hum Genet. 2008. PMID: 18656178 Free PMC article.

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

578 results

Search Page

Filters