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2007
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 (2007) Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. Genetics in Medicine, in press (2007)
2006
Bohm 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.
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.
2004
Borozdin W, Boehm D, Leipoldt M, Wilhelm C, Reardon W, Clayton-Smith J, Becker K, Muhlendyck 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.
2002
Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser 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.
Meyer MW, von Depka M, Wilhelm C, Schroder A, Erb C. Related 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.
2000
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.
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