Tunçbilek E - Search Results

1

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: tuncbilek e. 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

2

Central precocious puberty in a girl with Williams syndrome: the result of treatment with GnRH analogue.

Utine GE, Alikasifoglu A, Alikasifoglu M, Tuncbilek E. Utine GE, et al. Among authors: tuncbilek e. Eur J Med Genet. 2006 Jan-Feb;49(1):79-82. doi: 10.1016/j.ejmg.2005.04.020. Epub 2005 Jun 29. Eur J Med Genet. 2006. PMID: 16473313

3

Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome.

Alanay Y, Utine GE, Lachman RS, Krakow D, Tuncbilek E. Alanay Y, et al. Among authors: tuncbilek e. Pediatr Radiol. 2006 Sep;36(9):970-3. doi: 10.1007/s00247-006-0217-z. Epub 2006 May 20. Pediatr Radiol. 2006. PMID: 16715218

4

Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient.

Utine GE, Aktas D, Boduroğlu K, Alikasifoğlu M, Tunçbilek E. Utine GE, et al. Among authors: tuncbilek e. Genet Couns. 2007;18(2):171-7. Genet Couns. 2007. PMID: 17710869

5

Kabuki syndrome and trisomy 10p.

Utine GE, Alanay Y, Atkaş D, Boduroğlu K, Alikaşifoğlu M, Tunçbilek E. Utine GE, et al. Among authors: tuncbilek e. Genet Couns. 2008;19(3):291-300. Genet Couns. 2008. PMID: 18990985

6

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D. Alanay Y, et al. Among authors: tuncbilek e. Am J Hum Genet. 2010 Apr 9;86(4):551-9. doi: 10.1016/j.ajhg.2010.02.022. Epub 2010 Apr 1. Am J Hum Genet. 2010. PMID: 20362275 Free PMC article.

7

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.

Utine GE, Alanay Y, Aktaş D, Talim B, Kale G, Tunçbilek E. Utine GE, et al. Among authors: tuncbilek e. Turk J Pediatr. 2008 May-Jun;50(3):287-90. Turk J Pediatr. 2008. PMID: 18773678

8

Opinions of Turkish physicians towards termination of pregnancy for fetal disorders.

Utine GE, Kiper PO, Salanci BV, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K, Tunçbilek E. Utine GE, et al. Among authors: tuncbilek e. Genet Couns. 2011;22(4):401-9. Genet Couns. 2011. PMID: 22303801

9

Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability.

Utine GE, Kiper PO, Alanay Y, Haliloğlu G, Aktaş D, Boduroğlu K, Tunçbilek E, Alikaşifoğlu M. Utine GE, et al. Among authors: tuncbilek e. Mol Syndromol. 2012 Jan;2(2):64-71. doi: 10.1159/000334289. Epub 2011 Nov 22. Mol Syndromol. 2012. PMID: 22511893 Free PMC article.

10

Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients.

Utine GE, Celik T, Alanay Y, Alikaşifoğlu M, Boduroğlu K, Tunçbilek E, Aktaş D. Utine GE, et al. Among authors: tuncbilek e. Turk J Pediatr. 2009 May-Jun;51(3):199-206. Turk J Pediatr. 2009. PMID: 19817261

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