Kress W - Search Results

1

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M. Schulz AL, et al. Among authors: kress w. Clin Genet. 2008 Jan;73(1):62-70. doi: 10.1111/j.1399-0004.2007.00931.x. Epub 2007 Nov 27. Clin Genet. 2008. PMID: 18042262

2

The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case.

Bartsch O, Kress W, Wagner A, Seemanova E. Bartsch O, et al. Among authors: kress w. Cytogenet Cell Genet. 1999;85(3-4):310-4. doi: 10.1159/000015284. Cytogenet Cell Genet. 1999. PMID: 10449925

3

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

Bartsch O, Locher K, Meinecke P, Kress W, Seemanová E, Wagner A, Ostermann K, Rödel G. Bartsch O, et al. Among authors: kress w. J Med Genet. 2002 Jul;39(7):496-501. doi: 10.1136/jmg.39.7.496. J Med Genet. 2002. PMID: 12114483 Free PMC article. No abstract available.

4

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.

Merienne K, Jacquot S, Trivier E, Pannetier S, Rossi A, Scott C, Schinzel A, Castellan C, Kress W, Hanauer A. Merienne K, et al. Among authors: kress w. J Med Genet. 1998 Nov;35(11):890-4. doi: 10.1136/jmg.35.11.890. J Med Genet. 1998. PMID: 9832033 Free PMC article.

5

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: kress w. 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

6

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: kress w. Hum Mutat. 2005 Aug;26(2):113-8. doi: 10.1002/humu.20193. Hum Mutat. 2005. PMID: 15959873

7

Allelic heterogeneity of alkaptonuria in Central Europe.

Müller CR, Fregin A, Srsen S, Srsnova K, Halliger-Keller B, Felbor U, Seemanova E, Kress W. Müller CR, et al. Among authors: kress w. Eur J Hum Genet. 1999 Sep;7(6):645-51. doi: 10.1038/sj.ejhg.5200343. Eur J Hum Genet. 1999. PMID: 10482952

8

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

Seifert W, Holder-Espinasse M, Kühnisch J, Kahrizi K, Tzschach A, Garshasbi M, Najmabadi H, Walter Kuss A, Kress W, Laureys G, Loeys B, Brilstra E, Mancini GM, Dollfus H, Dahan K, Apse K, Hennies HC, Horn D. Seifert W, et al. Among authors: kress w. Hum Mutat. 2009 Feb;30(2):E404-20. doi: 10.1002/humu.20886. Hum Mutat. 2009. PMID: 19006247

9

Inheritance and variable expression in Rubinstein-Taybi syndrome.

Bartsch O, Kress W, Kempf O, Lechno S, Haaf T, Zechner U. Bartsch O, et al. Among authors: kress w. Am J Med Genet A. 2010 Sep;152A(9):2254-61. doi: 10.1002/ajmg.a.33598. Am J Med Genet A. 2010. PMID: 20684013

10

Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region.

Tagariello A, Heller R, Greven A, Kalscheuer VM, Molter T, Rauch A, Kress W, Winterpacht A. Tagariello A, et al. Among authors: kress w. J Med Genet. 2006 Jun;43(6):534-40. doi: 10.1136/jmg.2005.037820. Epub 2005 Oct 28. J Med Genet. 2006. PMID: 16258006 Free PMC article.

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