Alanay Y - Search Results

1

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA. Alanay Y, et al. Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Am J Med Genet A. 2014. PMID: 24194475 Review.

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

A multidisciplinary approach to the management of individuals with fragile X syndrome.

Alanay Y, Unal F, Turanli G, Alikaşifoğlu M, Alehan D, Akyol U, Belgin E, Sener C, Aktaş D, Boduroğlu K, Utine E, Volkan-Salanci B, Ozusta S, Genç A, Başar F, Sevinç S, Tunçbilek E. Alanay Y, et al. J Intellect Disabil Res. 2007 Feb;51(Pt 2):151-61. doi: 10.1111/j.1365-2788.2006.00942.x. J Intellect Disabil Res. 2007. PMID: 17217479

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