Utine GE - Search Results

1

A newborn with overlapping features of AEC and EEC syndromes.

Celik TH, Buyukcam A, Simsek-Kiper PO, Utine GE, Ersoy-Evans S, Korkmaz A, Yntema HG, Bodugroglu K, Yurdakok M. Celik TH, et al. Among authors: utine ge. Am J Med Genet A. 2011 Dec;155A(12):3100-3. doi: 10.1002/ajmg.a.34328. Epub 2011 Nov 7. Am J Med Genet A. 2011. PMID: 22065614

2

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

3

A mutation screen in patients with Kabuki syndrome.

Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B. Li Y, et al. Among authors: utine ge. Hum Genet. 2011 Dec;130(6):715-24. doi: 10.1007/s00439-011-1004-y. Epub 2011 May 24. Hum Genet. 2011. PMID: 21607748

4

Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance.

Kiper PÖ, Utine GE, Boduroğlu K, Alanay Y. Kiper PÖ, et al. Among authors: utine ge. Am J Med Genet A. 2011 Sep;155A(9):2288-92. doi: 10.1002/ajmg.a.34163. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834032

5

PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents.

Çelik T, Simsek PO, Sozen T, Ozyuncu O, Utine GE, Talim B, Yiğit Ş, Boduroglu K, Kamnasaran D. Çelik T, et al. Among authors: utine ge. Clin Genet. 2012 Mar;81(3):294-7. doi: 10.1111/j.1399-0004.2011.01730.x. Epub 2011 Dec 28. Clin Genet. 2012. PMID: 22211708 No abstract available.

6

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.

Simşek-Kiper PO, Utine GE, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K. Simşek-Kiper PO, et al. Among authors: utine ge. Turk J Pediatr. 2011 Sep-Oct;53(5):558-60. Turk J Pediatr. 2011. PMID: 22272459

7

Clinical and molecular analysis of RASopathies in a group of Turkish patients.

Şimşek-Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyilmaz D, Alehan D, Cetin M, Utine GE, Zenker M, Boduroğlu K. Şimşek-Kiper PÖ, et al. Among authors: utine ge. Clin Genet. 2013 Feb;83(2):181-6. doi: 10.1111/j.1399-0004.2012.01875.x. Epub 2012 Apr 9. Clin Genet. 2013. PMID: 22420426

8

Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities.

Simsek-Kiper PO, Topaloglu R, Sahin Y, Utine GE, Boduroglu K. Simsek-Kiper PO, et al. Among authors: utine ge. Genet Couns. 2013;24(1):7-12. Genet Couns. 2013. PMID: 23610860

9

Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly.

Takcı S, Korkmaz A, Simşek-Kiper PO, Utine GE, Boduroğlu K, Yurdakök M. Takcı S, et al. Among authors: utine ge. Turk J Pediatr. 2012 Jul-Aug;54(4):440-3. Turk J Pediatr. 2012. PMID: 23692731

10

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.

Dikoglu E, Simsek-Kiper PO, Utine GE, Campos-Xavier B, Boduroglu K, Bonafé L, Superti-Furga A, Unger S. Dikoglu E, et al. Among authors: utine ge. Am J Med Genet A. 2013 Dec;161A(12):3161-5. doi: 10.1002/ajmg.a.36173. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24039145

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