Wieland I - Search Results

1

A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome.

Wieland I, Schanze D, Schanze I, Volleth M, Muschke P, Zenker M. Wieland I, et al. Am J Med Genet A. 2014 Dec;164A(12):3213-4. doi: 10.1002/ajmg.a.36765. Epub 2014 Sep 23. Am J Med Genet A. 2014. PMID: 25251057 No abstract available.

2

Further delineation of Wittwer syndrome and refinement of the mapping region.

Wieland I, Muschke P, Wieacker P. Wieland I, et al. Am J Med Genet A. 2003 Jan 1;116A(1):57-60. doi: 10.1002/ajmg.a.10874. Am J Med Genet A. 2003. PMID: 12476452

3

Mapping of a further locus for X-linked craniofrontonasal syndrome.

Wieland I, Jakubiczka S, Muschke P, Wolf A, Gerlach L, Krawczak M, Wieacker P. Wieland I, et al. Cytogenet Genome Res. 2002;99(1-4):285-8. doi: 10.1159/000071605. Cytogenet Genome Res. 2002. PMID: 12900576

4

Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia.

Wieland I, Muschke P, Jakubiczka S, Volleth M, Freigang B, Wieacker PF. Wieland I, et al. J Med Genet. 2004 May;41(5):e54. doi: 10.1136/jmg.2003.010587. J Med Genet. 2004. PMID: 15121782 Free PMC article. No abstract available.

5

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. 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.

6

High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11).

Wieland I, Muschke P, Volleth M, Röpke A, Pelz AF, Stumm M, Wieacker P. Wieland I, et al. Genes Chromosomes Cancer. 2006 Oct;45(10):945-9. doi: 10.1002/gcc.20358. Genes Chromosomes Cancer. 2006. PMID: 16845657

7

The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.

Muschke P, Kölsch U, Jakubiczka S, Wieland I, Brune T, Wieacker P. Muschke P, et al. Among authors: wieland i. Am J Med Genet A. 2007 Dec 1;143A(23):2810-4. doi: 10.1002/ajmg.a.32046. Am J Med Genet A. 2007. PMID: 18041775

8

Familial translocation t(1;9) associated with macromastia: molecular cloning of the breakpoints.

Wieacker P, Apeshiotis N, Jakubiczka S, Volleth M, Wieland I. Wieacker P, et al. Among authors: wieland i. Sex Dev. 2007;1(1):35-41. doi: 10.1159/000096237. Sex Dev. 2007. PMID: 18391514

9

High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome.

Wieland I, Tinschert S, Zenker M. Wieland I, et al. Am J Med Genet A. 2013 Apr;161A(4):889-91. doi: 10.1002/ajmg.a.35764. Epub 2013 Feb 22. Am J Med Genet A. 2013. PMID: 23436452 No abstract available.

10

Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7).

Schulz S, Volleth M, Muschke P, Wieland I, Wieacker P. Schulz S, et al. Among authors: wieland i. Appl Clin Genet. 2008 Nov 18;1:19-22. doi: 10.2147/tacg.s4401. Print 2008. Appl Clin Genet. 2008. PMID: 23776344 Free PMC article.

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