Alanay Y - Search Results

1

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. 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.

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

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.

Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, Bonafé L. Ha-Vinh R, et al. Among authors: alanay y. Am J Med Genet A. 2004 Dec 1;131(2):115-20. doi: 10.1002/ajmg.a.30231. Am J Med Genet A. 2004. PMID: 15523624

5

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.

6

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

7

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

8

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

Renella R, Schaefer E, LeMerrer M, Alanay Y, Kandemir N, Eich G, Costa T, Ballhausen D, Boltshauser E, Bonafé L, Giedion A, Unger S, Superti-Furga A. Renella R, et al. Among authors: alanay y. Am J Med Genet A. 2006 Mar 15;140(6):541-50. doi: 10.1002/ajmg.a.31081. Am J Med Genet A. 2006. PMID: 16470600

9

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.

10

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

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