Tuncbilek E - Search Results

1

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

2

Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis.

Aktas D, Alikasifoglu M, Gonc N, Senocak ME, Tuncbilek E. Aktas D, et al. Among authors: tuncbilek e. Eur J Med Genet. 2006 Mar-Apr;49(2):141-9. doi: 10.1016/j.ejmg.2005.05.012. Epub 2005 Jul 1. Eur J Med Genet. 2006. PMID: 16530711

3

Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH.

Utine EG, Alanay Y, Aktas D, Alikasifoglu M, Boduroglu K, Vermeesch J, Tuncbilek E, Fryns JP. Utine EG, et al. Among authors: tuncbilek e. Eur J Med Genet. 2008 Jul-Aug;51(4):343-50. doi: 10.1016/j.ejmg.2008.03.002. Epub 2008 Mar 27. Eur J Med Genet. 2008. PMID: 18440888

4

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.

5

Screening for the fragile X syndrome among mentally retarded males by hair root analysis.

Tunçbilek E, Alikasifoğlu M, Aktas D, Duman F, Yanik H, Anar B, Oostra B, Willemsen R. Tunçbilek E, et al. Am J Med Genet. 2000 Nov 13;95(2):105-7. doi: 10.1002/1096-8628(20001113)95:2<105::aid-ajmg3>3.0.co;2-6. Am J Med Genet. 2000. PMID: 11078558

6

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

7

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

8

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

9

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

10

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

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