Alanay Y - Search Results

1

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: alanay y. 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

2

Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women.

Boduroğlu K, Alanay Y, Koldan B, Tunçbilek E. Boduroğlu K, et al. Among authors: alanay y. Am J Med Genet A. 2004 May 15;127A(1):5-10. doi: 10.1002/ajmg.a.20432. Am J Med Genet A. 2004. PMID: 15103709

3

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

4

Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations.

Alanay Y, Aktaş D, Utine E, Talim B, Onderoğlu L, Cağlar M, Tunçbilek E. Alanay Y, et al. Am J Med Genet A. 2005 Jul 30;136(3):265-8. doi: 10.1002/ajmg.a.30808. Am J Med Genet A. 2005. PMID: 15948192 Review.

5

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

6

Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population.

Boduroğlu K, Alanay Y, Alikaşifoğlu M, Aktaş D, Tunçbilek E. Boduroğlu K, et al. Among authors: alanay y. Turk J Pediatr. 2005 Oct-Dec;47(4):327-33. Turk J Pediatr. 2005. PMID: 16363341

7

Spondylo-ocular syndrome: a new entity involving the eye and spine.

Alanay Y, Superti-Furga A, Karel F, Tunçbilek E. Alanay Y, et al. Am J Med Genet A. 2006 Mar 15;140(6):652-6. doi: 10.1002/ajmg.a.31119. Am J Med Genet A. 2006. PMID: 16470687 No abstract available.

8

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

9

Congenital contractural arachnodactyly (Beals syndrome).

Tunçbilek E, Alanay Y. Tunçbilek E, et al. Among authors: alanay y. Orphanet J Rare Dis. 2006 Jun 1;1:20. doi: 10.1186/1750-1172-1-20. Orphanet J Rare Dis. 2006. PMID: 16740166 Free PMC article. Review.

10

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP. Bicknell LS, et al. Among authors: alanay y. J Med Genet. 2007 Feb;44(2):89-98. doi: 10.1136/jmg.2006.043687. Epub 2006 Jun 26. J Med Genet. 2007. PMID: 16801345 Free PMC article.

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