Utine GE - Search Results

1

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. Turk J Pediatr. 2009 May-Jun;51(3):199-206. Turk J Pediatr. 2009. PMID: 19817261

2

Partial trisomy 11q syndrome (11q23.1-->11qter) due to de novo t (11q; 13q) detected by multicolor fluorescence in situ hybridisation.

Utine GE, Thoelen R, Peeters H, Vermeesch J, Fryns JP. Utine GE, et al. Genet Couns. 2005;16(3):291-5. Genet Couns. 2005. PMID: 16259326

3

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. 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

4

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: utine ge. Pediatr Radiol. 2006 Sep;36(9):970-3. doi: 10.1007/s00247-006-0217-z. Epub 2006 May 20. Pediatr Radiol. 2006. PMID: 16715218

5

Mosaicism for terminal deletion of 4q.

Utine GE, Aktas D. Utine GE, et al. Genet Couns. 2006;17(2):205-9. Genet Couns. 2006. PMID: 16970039

6

Distal partial trisomy 1q: report of two cases and a review of the literature.

Utine GE, Aktas D, Alanay Y, Gücer S, Tuncbilek E, Mrasek K, Liehr T. Utine GE, et al. Prenat Diagn. 2007 Sep;27(9):865-71. doi: 10.1002/pd.1788. Prenat Diagn. 2007. PMID: 17605151 Review.

7

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. Genet Couns. 2007;18(2):171-7. Genet Couns. 2007. PMID: 17710869

8

Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature.

Liehr T, Utine GE, Trautmann U, Rauch A, Kuechler A, Pietrzak J, Bocian E, Kosyakova N, Mrasek K, Boduroglu K, Weise A, Aktas D. Liehr T, et al. Among authors: utine ge. Cytogenet Genome Res. 2007;118(1):31-7. doi: 10.1159/000106438. Cytogenet Genome Res. 2007. PMID: 17901697 Review.

9

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: utine ge. 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

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. Turk J Pediatr. 2008 May-Jun;50(3):287-90. Turk J Pediatr. 2008. PMID: 18773678

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