Yuksel-Apak M - Search Results

1

The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.

Uyguner O, Tukel T, Baykal C, Eris H, Emiroglu M, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M, Wollnik B. Uyguner O, et al. Clin Genet. 2002 Oct;62(4):306-9. doi: 10.1034/j.1399-0004.2002.620409.x. Clin Genet. 2002. PMID: 12372058

2

Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.

Wollnik B, Tukel T, Uyguner O, Ghanbari A, Kayserili H, Emiroglu M, Yuksel-Apak M. Wollnik B, et al. Am J Med Genet A. 2003 Sep 15;122A(1):42-5. doi: 10.1002/ajmg.a.20260. Am J Med Genet A. 2003. PMID: 12949970

3

Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.

Uyguner O, Emiroglu M, Uzumcu A, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M, Wollnik B. Uyguner O, et al. Clin Genet. 2003 Jul;64(1):65-9. doi: 10.1034/j.1399-0004.2003.00101.x. Clin Genet. 2003. PMID: 12791041

4

Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family.

Ozden S, Düzcan F, Wollnik B, Cetin OG, Sahiner T, Bayramoğlu I, Yüksel-Apak M, Bağci H. Ozden S, et al. Ophthalmic Genet. 2002 Mar;23(1):29-36. doi: 10.1076/opge.23.1.29.2208. Ophthalmic Genet. 2002. PMID: 11910556

5

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

6

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.

7

A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency.

Tukel T, Uyguner O, Wei JQ, Yuksel-Apak M, Saka N, Song DX, Kayserili H, Bas F, Gunoz H, Wilson RC, New MI, Wollnik B. Tukel T, et al. J Clin Endocrinol Metab. 2003 Dec;88(12):5893-7. doi: 10.1210/jc.2003-030813. J Clin Endocrinol Metab. 2003. PMID: 14671187

8

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.

9

CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor.

Utku U, Celik Y, Uyguner O, Yüksel-Apak M, Wollnik B. Utku U, et al. Eur J Neurol. 2002 Jan;9(1):23-8. doi: 10.1046/j.1468-1331.2002.00344.x. Eur J Neurol. 2002. PMID: 11784372

10

A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family.

Karaman B, Wollnik B, Ermiş H, Yüksel-Apak M, Başaran S. Karaman B, et al. Prenat Diagn. 2003 Apr;23(4):336-9. doi: 10.1002/pd.592. Prenat Diagn. 2003. PMID: 12673642

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