Alanay Y - Search Results

1

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D. Bramswig NC, et al. Among authors: alanay y. Hum Genet. 2015 Jun;134(6):553-68. doi: 10.1007/s00439-015-1535-8. Epub 2015 Feb 28. Hum Genet. 2015. PMID: 25724810 Clinical Trial.

2

Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance.

Alanay Y, Boduroglu K, Sönmez B, Orhan M. Alanay Y, et al. Am J Med Genet A. 2004 Sep 15;130A(1):92-5. doi: 10.1002/ajmg.a.30114. Am J Med Genet A. 2004. PMID: 15368502

3

Celiac disease screening in 100 Turkish children with Down syndrome.

Alanay Y, Boduroğlu K, Tunçbilek E. Alanay Y, et al. Turk J Pediatr. 2005 Apr-Jun;47(2):138-40. Turk J Pediatr. 2005. PMID: 16052853

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. 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

Unilateral Peters' anomaly in an infant with 22q11.2 deletion syndrome.

Erdoğan MK, Utine GE, Alanay Y, Aktaş D. Erdoğan MK, et al. Among authors: alanay y. Clin Dysmorphol. 2008 Oct;17(4):289-90. doi: 10.1097/MCD.0b013e3283079e7c. Clin Dysmorphol. 2008. PMID: 18978663 No abstract available.

6

Kabuki syndrome and trisomy 10p.

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

7

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Bornholdt D, Oeffner F, König A, Happle R, Alanay Y, Ascherman J, Benke PJ, Boente Mdel C, van der Burgt I, Chassaing N, Ellis I, Francisco CR, Della Giovanna P, Hamel B, Has C, Heinelt K, Janecke A, Kastrup W, Loeys B, Lohrisch I, Marcelis C, Mehraein Y, Nicolas ME, Pagliarini D, Paradisi M, Patrizi A, Piccione M, Piza-Katzer H, Prager B, Prescott K, Strien J, Utine GE, Zeller MS, Grzeschik KH. Bornholdt D, et al. Among authors: alanay y. Hum Mutat. 2009 May;30(5):E618-28. doi: 10.1002/humu.20992. Hum Mutat. 2009. PMID: 19309688

8

Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: a third patient suggesting autosomal recessive inheritance.

Utine GE, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K. Utine GE, et al. Among authors: alanay y. Am J Med Genet A. 2009 Jun;149A(6):1317-8. doi: 10.1002/ajmg.a.32825. Am J Med Genet A. 2009. PMID: 19449409 No abstract available.

9

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

10

Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes.

Simşek PO, Utine GE, Alikaşifoğlu A, Alanay Y, Boduroğlu K, Kandemir N. Simşek PO, et al. Among authors: alanay y. Turk J Pediatr. 2009 May-Jun;51(3):294-7. Turk J Pediatr. 2009. PMID: 19817277

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