Yuksel-Apak M - Search Results

1

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.

Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB. Van Maldergem L, et al. Among authors: yuksel apak m. Neurology. 2008 Nov 11;71(20):1602-8. doi: 10.1212/01.wnl.0000327822.52212.c7. Epub 2008 Aug 20. Neurology. 2008. PMID: 18716235 Free article.

2

Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family.

Wollnik B, Kayserili H, Uyguner O, Tukel T, Yuksel-Apak M. Wollnik B, et al. Ann Genet. 2002 Oct-Dec;45(4):213-7. doi: 10.1016/s0003-3995(02)01144-9. Ann Genet. 2002. PMID: 12668170

3

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.

Tukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, Gultekin SH, Hennies HC, Nurnberg P, Desnick RJ, Wollnik B. Tukel T, et al. Among authors: yuksel apak m. J Med Genet. 2005 May;42(5):408-15. doi: 10.1136/jmg.2004.026138. J Med Genet. 2005. PMID: 15863670 Free PMC article.

4

Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS).

Kayserili H, Cox TC, Cox LL, Basaran S, Kiliç G, Ballabio A, Yüksel-Apak M. Kayserili H, et al. J Med Genet. 2001 Jun;38(6):411-7. doi: 10.1136/jmg.38.6.411. J Med Genet. 2001. PMID: 11424926 Free PMC article. Review. No abstract available.

5

Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patients.

Savas S, Gokgoz N, Kayserili H, Ozkinay F, Yuksel-Apak M, Kirdar B. Savas S, et al. Hum Hered. 2000 May-Jun;50(3):162-5. doi: 10.1159/000022907. Hum Hered. 2000. PMID: 10686493

6

Studies on the pathogenesis of Costello syndrome.

Mancini GM, van Diggelen OP, Kleijer WJ, Di Rocco M, Farina V, Yuksel-Apak M, Kayserili H, Halley DJ. Mancini GM, et al. J Med Genet. 2003 Apr;40(4):e37. doi: 10.1136/jmg.40.4.e37. J Med Genet. 2003. PMID: 12676910 Free PMC article. No abstract available.

7

Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.

Uyguner O, Goicoechea de Jorge E, Cefle A, Baykal T, Kayserili H, Cefle K, Demirkol M, Yuksel-Apak M, Rodriguez de Córdoba S, Wollnik B. Uyguner O, et al. J Inherit Metab Dis. 2003;26(1):17-23. doi: 10.1023/a:1024063126954. J Inherit Metab Dis. 2003. PMID: 12872836 Clinical Trial.

8

Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey.

Oğur G, Yüksel-Apak M, Demiryont M. Oğur G, et al. Am J Med Genet. 1990 Sep;37(1):6-9. doi: 10.1002/ajmg.1320370103. Am J Med Genet. 1990. PMID: 1700609

9

Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11.

Dutly F, Baumer A, Kayserili H, Yüksel-Apak M, Zerova T, Hebisch G, Schinzel A. Dutly F, et al. Am J Med Genet. 1998 Oct 12;79(5):347-53. doi: 10.1002/(sici)1096-8628(19981012)79:5<347::aid-ajmg4>3.0.co;2-g. Am J Med Genet. 1998. PMID: 9779800

10

CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.

Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N. Baş F, et al. Among authors: yuksel apak m. J Clin Res Pediatr Endocrinol. 2009;1(3):116-28. doi: 10.4008/jcrpe.v1i3.49. Epub 2009 Feb 2. J Clin Res Pediatr Endocrinol. 2009. PMID: 21274396 Free PMC article.

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