Research Topics
Species | Timm GoeckeSummaryAffiliation: Heinrich Heine University Country: Germany Publications
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Detail Information
Publications
Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC ConsortiumTimm Goecke
University Hospital, Heinrich Heine University, Institute of Human Genetics and Department of Surgery, Dusseldorf, Germany
J Clin Oncol 24:4285-92. 2006..Lynch syndrome is linked to germline mutations in mismatch repair genes. We analyzed the genotype-phenotype correlations in the largest cohort so far reported...
Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skinSibylle Eigelshoven
Department of Dermatology, Heinrich Heine University, Dusseldorf, Germany
Pediatr Dermatol 26:759-61. 2009..Early diagnosis of Waardenburg syndrome among children with pigment anomalies enables a successful interdisciplinary medical care...
Gene symbol: STK11. Disease: Peutz-Jeghers syndromeValerie Schumacher
University of Duesseldorf, Institute of Human Genetics, Germany
Hum Genet 116:541. 2005
Gene symbol: STK11. Disease: Peutz-Jeghers syndromeValerie Schumacher
University of Duesseldorf, Institute of Human Genetics, Germany
Hum Genet 116:540. 2005
Gene symbol: STK11. Disease: Peutz-Jeghers syndromeValerie Schumacher
University of Duesseldorf, Institute of Human Genetics, Germany
Hum Genet 116:540. 2005
Gene symbol: STK11. Disease: Peutz-Jeghers syndromeValerie Schumacher
University of Duesseldorf, Institute of Human Genetics, Germany
Hum Genet 116:540. 2005
Gene symbol: STK11. Disease: Peutz-Jeghers syndromeValerie Schumacher
University of Duesseldorf, Institute of Human Genetics, Germany
Hum Genet 116:537. 2005
Gene symbol: STK11. Disease: Peutz-Jeghers syndromeValerie Schumacher
University of Duesseldorf, Institute of Human Genetics, Germany
Hum Genet 116:537. 2005
Gene symbol: STK11. Disease: Peutz-Jeghers syndromeValerie Schumacher
University of Duesseldorf, Institute of Human Genetics, Germany
Hum Genet 116:536. 2005
Gene symbol: STK11. Disease: Peutz-Jeghers syndromeValerie Schumacher
University of Duesseldorf, Institute of Human Genetics, Germany
Hum Genet 116:533. 2005
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancerElisabeth Mangold
Institute of Human Genetics, University Hospital Bonn, Germany
Int J Cancer 116:692-702. 2005....
Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infantUlrike Hennewig
Department of General Pediatrics, University Hospital Duesseldorf, Duesseldorf, Germany
J Hum Genet 53:573-7. 2008..Based on the observation of three patients presenting with the combination of congenital hyperinsulinism and CCHS, hyperinsulinism might represent an additional clinical feature of CCHS...
