Wollnik B - Search Results

1

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B. Kalay E, et al. Among authors: wollnik b. Hum Mutat. 2006 Jul;27(7):633-9. doi: 10.1002/humu.20368. Hum Mutat. 2006. PMID: 16752389

2

Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.

Wollnik B, Kubisch C, Steinmeyer K, Pusch M. Wollnik B, et al. Hum Mol Genet. 1997 May;6(5):805-11. doi: 10.1093/hmg/6.5.805. Hum Mol Genet. 1997. PMID: 9158157

3

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.

Wollnik B, Schroeder BC, Kubisch C, Esperer HD, Wieacker P, Jentsch TJ. Wollnik B, et al. Hum Mol Genet. 1997 Oct;6(11):1943-9. doi: 10.1093/hmg/6.11.1943. Hum Mol Genet. 1997. PMID: 9302275

4

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

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

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

7

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

8

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

9

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.

10

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

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