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Constanze Walldorf
Researcher at University of Bonn
Publications - 7
Citations - 456
Constanze Walldorf is an academic researcher from University of Bonn. The author has contributed to research in topics: Germline mutation & Lynch syndrome. The author has an hindex of 7, co-authored 7 publications receiving 433 citations.
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Journal ArticleDOI
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC
Monika Morak,Hans K. Schackert,Nils Rahner,Beate Betz,Matthias P.A. Ebert,Constanze Walldorf,Brigitte Royer-Pokora,Karsten Schulmann,Magnus von Knebel-Doeberitz,Wolfgang Dietmaier,Gisela Keller,Brigitte Kerker,Gertraud Leitner,Elke Holinski-Feder +13 more
TL;DR: Findings provide strong evidence that MLH 1 promoter methylation in normal body cells mimics HNPCC and constitutes a pathogenic pre-lesion in MLH1.
Journal ArticleDOI
DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation
Hartmut Engels,Antje Brockschmidt,Alexander Hoischen,Christina Landwehr,Kristin Bosse,Constanze Walldorf,Grischa Toedt,Bernhard Radlwimmer,Peter Propping,Peter Lichter,Ruthild G. Weber +10 more
TL;DR: The gene content of the microimbalances was found to correlate with phenotype severity and allowed the identification of deleted genes presumably causing mental retardation in 10% of patients with unclear etiology.
Journal ArticleDOI
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.
Stefan Krüger,Miriam Kinzel,Constanze Walldorf,Sven Gottschling,Andrea Bier,Sigrid Tinschert,Arend von Stackelberg,Wolfram Henn,Heike Görgens,Stéphanie Boué,Konrad Kölble,Reinhard Büttner,Hans K. Schackert +12 more
TL;DR: After reviewing published cases of biallelic MMR gene mutations, a concise description of CCS is provided, revealing similarities in age distribution with carriers of heterozygous MMR gene mutation.
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Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome.
Nils Rahner,Nicolaus Friedrichs,Verena Steinke,Stefan Aretz,Waltraut Friedl,Reinhard Buettner,E. Mangold,Peter Propping,Constanze Walldorf +8 more
TL;DR: It is demonstrated that methylation of the MLH1 promoter region does not exclude the presence of a germline mutation in a mismatch repair (MMR) gene, and hypermethylation of this promoter region may be present in most cases of sporadic colorectal cancers, but thisdoes not exclude a diagnosis of Lynch syndrome.
Journal ArticleDOI
Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.
Christian H Brenk,Eva-Christina Prott,Detlef Trost,Alexander Hoischen,Constanze Walldorf,Bernhard Radlwimmer,Dagmar Wieczorek,Peter Propping,Gabriele Gillessen-Kaesbach,Ruthild G. Weber,Hartmut Engels +10 more
TL;DR: A phenotype map for several clinical features of the 18p− syndrome is proposed: Round face was tentatively mapped to the distal 1.6 Mb of 18p; post-natal growth retardation and seizures to thedistal 8’Mb and ptosis and short neck to the proximal half of 18 p.