Publications

Publications Dr. Christian Wilhelm

Hoefele J, Wilhelm C, Schiesser M, Mack R, Heinrich U, Weber LT, Biskup S, Daumer-Haas C, Klein HG, Rost I. (2013) Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1. Gene. 2013 May 15;520(2):194-7.

Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S (2012). Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia. May 21.

Synofzik M, Ronchi D, Keskin I, Basak AN, Wilhelm C, Gobbi C, Birve A, Biskup S, Zecca C, Fernández-Santiago R, Kaugesaar T, Schöls L, Marklund SL, Andersen PM (2012). Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS. Hum Mol Genet. May 30.

Schneider A, Hasan A, Hirschel S, Wilhelm C, Kohlhase J, Falkai P, Gärtner J, Steinfeld R, Wobrock T, Degner D. A novel mutation of the arylsulfatase A gene in late-onset metachromatic leukodystrophy. J Clin Psychiatry. 2009 Dec;70(12):1724-5.

Schlachetzki JC, Schmidtke K, Beckervordersandforth J, Borozdin W, Wilhelm C, Hüll M, Kohlhase J. Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients. J Neurol. 2009 Dec;256(12):2043-51. Epub 2009 Jul 19.

Franke G, Bausch B, Hoffmann MM, Cybulla M, Wilhelm C, Kohlhase J, Scherer G, Neumann HP. Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. Hum Mutat. 2009 May;30(5):776-86.

Axer H, Hüge S, Wilhelm C, Axer M, Kunze A, Reichenbach JR, Freesmeyer M, Kohlhase J, Sauer H, Bär KJ. Hereditary Alzheimer's disease with amyloid angiopathy caused by amyloid precursor protein locus. Nervenarzt 2009 Jan;80(1):62-3, 65-7.

Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pöyhönen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, Kääriäinen H, Kohlhase J. Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. Genet Med. 2007 Oct;9(10):690-4.

Böhm J, Sustmann C, Wilhelm C, Kohlhase J. SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway. Biochem Biophys Res Commun. 2006 Sep 29;348(3):898-907. Epub 2006 Jul 31.

Has C, Wessagowit V, Pascucci M, Baer C, Didona B, Wilhelm C, Pedicelli C, Locatelli A, Kohlhase J, Ashton GH, Tadini G, Zambruno G, Bruckner-Tuderman L, McGrath JA, Castiglia D. Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol. 2006 Aug;126(8):1776-83. Epub 2006 May 4.

Borozdin W, Boehm D, Leipoldt M, Wilhelm C, Reardon W, Clayton-Smith J, Becker K, Mühlendyck H, Winter R, Giray O, Silan F, Kohlhase J. SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. J Med Genet. 2004 Sep;41(9):e113.

Meyer MW, von Depka M, Wilhelm C, Schröder A, Erb C. Plasminogen activator inhibitor-1 mRNA expression in cultured pigmented ciliary epithelial cells of the porcine eye. Graefes Arch Clin Exp Ophthalmol. 2002 Aug;240(8):679-86.

Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Gläser B, Grzmil M, Burfeind P, Laccone F. Identification and characterization of murine Brunol4, a new member of the elav/bruno family. Cytogenet Genome Res. 2002;97(3-4):254-60.

Laccone F, Christian W. A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters. Am J Hum Genet. 2000 Mar;66(3):1145-8.