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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Mustafa Tekin

Division of Clinical Molecular Pathology and Genetics

Department of Pediatrics

Ankara University School of Medicine




Name/email consistency: high



  • Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey. 2002 - 2009
  • Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey. 2006


  1. A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child. Tekin, M., Sirmaci, A., Yüksel-Konuk, B., Fitoz, S., Sennaroğlu, L. Am. J. Med. Genet. A (2009) [Pubmed]
  2. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. Tekin, M., Oztürkmen Akay, H., Fitoz, S., Birnbaum, S., Cengiz, F.B., Sennaroğlu, L., Incesulu, A., Yüksel Konuk, E.B., Hasanefendioğlu Bayrak, A., Sentürk, S., Cebeci, I., Utine, G.E., Tunçbilek, E., Nance, W.E., Duman, D. Clin. Genet. (2008) [Pubmed]
  3. Genetic epidemiological studies of congenital/prelingual deafness in Turkey: population structure and mating type are major determinants of mutation identification. Tekin, M., Arici, Z.S. Am. J. Med. Genet. A (2007) [Pubmed]
  4. 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, B.O., Fitoz, S., Ozdağ, H., Cengiz, F.B., Sirmaci, A., Aslan, I., Inceoğlu, B., Yüksel-Konuk, E.B., Yilmaz, S.T., Yasun, O., Akar, N. Am. J. Hum. Genet. (2007) [Pubmed]
  5. Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene. Tekin, M., Cengiz, F.B., Ayberkin, E., Kendirli, T., Fitoz, S., Tutar, E., Ciftçi, E., Conba, A. Am. J. Med. Genet. A (2007) [Pubmed]
  6. 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. Int. J. Pediatr. Otorhinolaryngol. (2006) [Pubmed]
  7. Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia. Tekin, M., Boğoclu, G., Arican, S.T., Orman, M.N., Tastan, H., Elsobky, E., Elsayed, S., Akar, N. Clin. Genet. (2005) [Pubmed]
  8. A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy. Tekin, M., Akcayoz, D., Incesulu, A. Am. J. Med. Genet. A (2005) [Pubmed]
  9. 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. Am. J. Med. Genet. A (2004) [Pubmed]
  10. Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. Tekin, M., Duman, T., Boğoçlu, G., Incesulu, A., Comak, E., Fitoz, S., Yilmaz, E., Ilhan, I., Akar, N. Eur. J. Pediatr. (2003) [Pubmed]
  11. 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. Hum. Mutat. (2003) [Pubmed]
  12. 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. Genet. Couns. (2003) [Pubmed]
  13. 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. Clin. Genet. (2002) [Pubmed]
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