Muschke P - Search Results

1

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: muschke 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.

2

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. Among authors: muschke p. Cytogenet Genome Res. 2002;99(1-4):285-8. doi: 10.1159/000071605. Cytogenet Genome Res. 2002. PMID: 12900576

3

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

Wieland I, Muschke P, Wieacker P. Wieland I, et al. Among authors: muschke p. 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

4

Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.

Eckel H, Wimmer R, Volleth M, Jakubiczka S, Muschke P, Wieacker P. Eckel H, et al. Among authors: muschke p. Am J Med Genet A. 2006 Jun 1;140(11):1219-22. doi: 10.1002/ajmg.a.31237. Am J Med Genet A. 2006. PMID: 16652358

5

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. Among authors: muschke p. Genes Chromosomes Cancer. 2006 Oct;45(10):945-9. doi: 10.1002/gcc.20358. Genes Chromosomes Cancer. 2006. PMID: 16845657

6

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. 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

7

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: muschke p. 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.

8

Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.

Zumkeller W, Volleth M, Muschke P, Tönnies H, Heller A, Liehr T, Wieacker P, Stumm M. Zumkeller W, et al. Among authors: muschke p. Am J Med Genet A. 2004 Sep 1;129A(3):261-4. doi: 10.1002/ajmg.a.30125. Am J Med Genet A. 2004. PMID: 15326625

9

Autosomal recessive non-immune hydrops fetalis caused by systemic lymphangiectasia.

Wieacker P, Muschke P, Pollak KH, Müller R. Wieacker P, et al. Among authors: muschke p. Am J Med Genet A. 2005 Jan 30;132A(3):318-9. doi: 10.1002/ajmg.a.30392. Am J Med Genet A. 2005. PMID: 15690379 No abstract available.

10

Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males.

Schulz S, Jakubiczka S, Kropf S, Nickel I, Muschke P, Kleinstein J. Schulz S, et al. Among authors: muschke p. Fertil Steril. 2006 Jan;85(1):135-8. doi: 10.1016/j.fertnstert.2005.07.1282. Fertil Steril. 2006. PMID: 16412743 Free article.

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