Boduroglu K - Search Results

1

Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.

Arman A, Bereket A, Coker A, Kiper PÖ, Güran T, Ozkan B, Atay Z, Akçay T, Haliloglu B, Boduroglu K, Alanay Y, Turan S. Arman A, et al. Among authors: boduroglu k. Orphanet J Rare Dis. 2014 Apr 26;9:60. doi: 10.1186/1750-1172-9-60. Orphanet J Rare Dis. 2014. PMID: 24767306 Free PMC article.

2

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Batkovskyte D, McKenzie F, Taylan F, Simsek-Kiper PO, Nikkel SM, Ohashi H, Stevenson RE, Ha T, Cavalcanti DP, Miyahara H, Skinner SA, Aguirre MA, Akçören Z, Utine GE, Chiu T, Shimizu K, Hammarsjö A, Boduroglu K, Moore HW, Louie RJ, Arts P, Merrihew AN, Babic M, Jackson MR, Papadogiannakis N, Lindstrand A, Nordgren A, Barnett CP, Scott HS, Chagin AS, Nishimura G, Grigelioniene G. Batkovskyte D, et al. Among authors: boduroglu k. J Bone Miner Res. 2023 May;38(5):692-706. doi: 10.1002/jbmr.4799. Epub 2023 Mar 27. J Bone Miner Res. 2023. PMID: 36896612 Free article.

3

Evaluation of polysomnography findings in children with genetic skeletal disorders.

Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, Sunman B, Güzelkaş I, Alboğa D, Akgül Erdal M, Boduroglu K, Utine GE, Yalcın E, Doğru D, Kiper N, Ozcelik U. Nayır Büyükşahin H, et al. Among authors: boduroglu k. J Sleep Res. 2023 Oct;32(5):e13914. doi: 10.1111/jsr.13914. Epub 2023 May 1. J Sleep Res. 2023. PMID: 37128177

4

Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.

Güvenoğlu M, Şimşek-Kiper PÖ, Koşukcu C, Taskiran EZ, Saltık-Temizel İN, Gucer S, Utine E, Boduroğlu K. Güvenoğlu M, et al. Among authors: boduroglu k. Pediatr Gastroenterol Hepatol Nutr. 2022 Nov;25(6):441-452. doi: 10.5223/pghn.2022.25.6.441. Epub 2022 Nov 2. Pediatr Gastroenterol Hepatol Nutr. 2022. PMID: 36451688 Free PMC article. Review.

5

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. 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

6

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

Alanay Y, Boduroglu K, Sönmez B, Orhan M. Alanay Y, et al. Among authors: boduroglu k. 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

7

Celiac disease screening in 100 Turkish children with Down syndrome.

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

8

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. Turk J Pediatr. 2005 Oct-Dec;47(4):327-33. Turk J Pediatr. 2005. PMID: 16363341

9

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: boduroglu k. 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

10

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: boduroglu k. 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.

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