Wieacker P - Search Results

1

Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome.

Wieland I, Bohring A, Wieacker P. Wieland I, et al. Among authors: wieacker p. Hum Genet. 2008 Feb;123(1):105. Hum Genet. 2008. PMID: 18386327 No abstract available.

2

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P. Wieland I, et al. Among authors: wieacker p. Am J Hum Genet. 2004 Jun;74(6):1209-15. doi: 10.1086/421532. Epub 2004 Apr 29. Am J Hum Genet. 2004. PMID: 15124102 Free PMC article.

3

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).

Wieland I, Reardon W, Jakubiczka S, Franco B, Kress W, Vincent-Delorme C, Thierry P, Edwards M, König R, Rusu C, Schweiger S, Thompson E, Tinschert S, Stewart F, Wieacker P. Wieland I, et al. Among authors: wieacker p. Hum Mutat. 2005 Aug;26(2):113-8. doi: 10.1002/humu.20193. Hum Mutat. 2005. PMID: 15959873

4

Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.

Wieacker P, Wieland I. Wieacker P, et al. Mol Genet Metab. 2005 Sep-Oct;86(1-2):110-6. doi: 10.1016/j.ymgme.2005.07.017. Mol Genet Metab. 2005. PMID: 16143553 Review.

5

Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.

Wieland I, Makarov R, Reardon W, Tinschert S, Goldenberg A, Thierry P, Wieacker P. Wieland I, et al. Among authors: wieacker p. Eur J Hum Genet. 2008 Feb;16(2):184-91. doi: 10.1038/sj.ejhg.5201968. Epub 2007 Nov 28. Eur J Hum Genet. 2008. PMID: 18043713

6

The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.

Makarov R, Steiner B, Gucev Z, Tasic V, Wieacker P, Wieland I. Makarov R, et al. Among authors: wieacker p. BMC Med Genet. 2010 Jun 17;11:98. doi: 10.1186/1471-2350-11-98. BMC Med Genet. 2010. PMID: 20565770 Free PMC article.

7

Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease. Accession #Hm0550.

Jakubiczka S, Wieland I, Grieger M, Wieacker P. Jakubiczka S, et al. Among authors: wieacker p. Hum Genet. 2006 Feb;118(6):781. Hum Genet. 2006. PMID: 17297706 No abstract available.

8

Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0551.

Jakubiczka S, Wieland I, Wohlfahrt K, Niederstrasser N, Wieacker P. Jakubiczka S, et al. Among authors: wieacker p. Hum Genet. 2006 Feb;118(6):781. Hum Genet. 2006. PMID: 17297707 No abstract available.

9

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.

Wieland I, Weidner C, Ciccone R, Lapi E, McDonald-McGinn D, Kress W, Jakubiczka S, Collmann H, Zuffardi O, Zackai E, Wieacker P. Wieland I, et al. Among authors: wieacker p. Clin Genet. 2007 Dec;72(6):506-16. doi: 10.1111/j.1399-0004.2007.00905.x. Epub 2007 Oct 16. Clin Genet. 2007. PMID: 17941886

10

Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome.

Wieland I, Wieacker P, Prager B. Wieland I, et al. Among authors: wieacker p. Hum Genet. 2008 Feb;123(1):105. Hum Genet. 2008. PMID: 18386322 No abstract available.

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