Fitoz S - Search Results

1

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. Among authors: fitoz s. 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

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. Among authors: fitoz s. 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

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. Among authors: fitoz s. 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.

4

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. Among authors: fitoz s. 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.

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. 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. Among authors: fitoz s. 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. Among authors: fitoz s. 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. 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

Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.

Teber S, Sezer T, Kafali M, Manzini MC, Konuk Yüksel B, Tekin M, Fitöz S, Walsh CA, Deda G. Teber S, et al. Among authors: fitoz s. Eur J Paediatr Neurol. 2008 Mar;12(2):133-6. doi: 10.1016/j.ejpn.2007.06.008. Epub 2007 Sep 18. Eur J Paediatr Neurol. 2008. PMID: 17881266

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. Among authors: fitoz s. 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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