Wollnik B - Search Results

1

The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses.

Basaran S, Engur A, Aytan M, Karaman B, Ghanbari A, Toksoy G, Yuksel A, Cankat D, Kervancioglu E, Wollnik B, Bahceci M, Yuksel-Apak M. Basaran S, et al. Among authors: wollnik b. Fetal Diagn Ther. 2004 Jul-Aug;19(4):313-8. doi: 10.1159/000077958. Fetal Diagn Ther. 2004. PMID: 15192289

2

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. Among authors: wollnik b. Prenat Diagn. 2003 Apr;23(4):336-9. doi: 10.1002/pd.592. Prenat Diagn. 2003. PMID: 12673642

3

A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3.

Uyguner O, Kayserili H, Li Y, Karaman B, Nürnberg G, Hennies H, Becker C, Nürnberg P, Başaran S, Apak MY, Wollnik B. Uyguner O, et al. Among authors: wollnik b. Clin Genet. 2007 Mar;71(3):212-9. doi: 10.1111/j.1399-0004.2007.00762.x. Clin Genet. 2007. PMID: 17309643

4

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. Among authors: wollnik b. Clin Genet. 2003 Jul;64(1):65-9. doi: 10.1034/j.1399-0004.2003.00101.x. Clin Genet. 2003. PMID: 12791041

5

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. Among authors: wollnik b. Clin Genet. 2002 Oct;62(4):306-9. doi: 10.1034/j.1399-0004.2002.620409.x. Clin Genet. 2002. PMID: 12372058

6

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

7

A large duplication involving the IHH locus mimics acrocallosal syndrome.

Yuksel-Apak M, Bögershausen N, Pawlik B, Li Y, Apak S, Uyguner O, Milz E, Nürnberg G, Karaman B, Gülgören A, Grzeschik KH, Nürnberg P, Kayserili H, Wollnik B. Yuksel-Apak M, et al. Among authors: wollnik b. Eur J Hum Genet. 2012 Jun;20(6):639-44. doi: 10.1038/ejhg.2011.250. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234151 Free PMC article.

8

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. Among authors: wollnik b. J Inherit Metab Dis. 2003;26(1):17-23. doi: 10.1023/a:1024063126954. J Inherit Metab Dis. 2003. PMID: 12872836 Clinical Trial.

9

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

10

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. Among authors: wollnik b. Eur J Neurol. 2002 Jan;9(1):23-8. doi: 10.1046/j.1468-1331.2002.00344.x. Eur J Neurol. 2002. PMID: 11784372

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