Publications by authors named "Timm Goecke"

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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Sabine Steiner-Haldenstätt, Esther Pohl, Timm O Goecke

Hum Mol Genet· December 2013

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A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.
Sabrina Classen, Timm Goecke, Matthias Drechsler, Beate Betz, Natalie Nickel

Am J Med Genet A· June 2013

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Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
Johanna Christina Czeschik, Claudia Voigt, Timm O Goecke, Hermann-Josef Lüdecke, Nicholas Wagner

Am J Med Genet A· February 2013

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Risks of less common cancers in proven mutation carriers with lynch syndrome.
Christoph Engel, Markus Loeffler, Verena Steinke, Nils Rahner, Elke Holinski-Feder, Timm O Goecke

J Clin Oncol· December 2012

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Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.
Simone Heidemann, Christine Fischer, Christoph Engel, Barbara Fischer, Lana Harder, Timm O Goecke

Breast Cancer Res Treat· August 2012

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New mutations in the ATM gene and clinical data of 25 AT patients.
Ilja Demuth, Véronique Dutrannoy, Wilson Marques, Heidemarie Neitzel, Detlev Schindler, Timm O Goecke

Neurogenetics· November 2011

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Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
Karin Hardt, Sven Boris Heick, Beate Betz, Timm Goecke, Haniyeh Yazdanparast

Fam Cancer· June 2011

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Polymorphisms in CTNNBL1 in relation to colorectal cancer with evolutionary implications.
Stefanie Huhn, Dierk Ingelfinger, Justo Lorenzo Bermejo, Melanie Bevier, Barbara Pardini, Timm Goecke

Int J Mol Epidemiol Genet· January 2011

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Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility.
Jesús Lascorz, Asta Försti, Bowang Chen, Stephan Buch, Verena Steinke, Timm Goecke

Carcinogenesis· September 2010

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Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin.
Sibylle Eigelshoven, Gitta Kameda, Anne-Katrin Kortüm, Simone Hübsch, Wolfgang Angerstein, Timm Goecke

Pediatr Dermatol· June 2010

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Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer.
Christoph Engel, Nils Rahner, Karsten Schulmann, Elke Holinski-Feder, Timm O Goecke

Clin Gastroenterol Hepatol· February 2010

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Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.
Beate Betz, Stephan Theiss, Murat Aktas, Carolin Konermann, Timm O Goecke

J Cancer Res Clin Oncol· January 2010

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Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers.
Heidi Salloch, Anke Reinacher-Schick, Karsten Schulmann, Christian Pox, Jörg Willert, Timm O Goecke

Int J Colorectal Dis· January 2010

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Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
Thomas E Neumann, Judith Allanson, Ines Kavamura, Bronwyn Kerr, Giovanni Neri, Timm O Goecke

Eur J Hum Genet· April 2009

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Deciphering the genetics of hereditary non-syndromic colorectal cancer.
Eli Papaemmanuil, Luis Carvajal-Carmona, Gabrielle S Sellick, Zoe Kemp, Emily Webb, Timm O Goecke

Eur J Hum Genet· December 2008

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Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families.
Bernd Frank, Barbara Burwinkel, Justo Lorenzo Bermejo, Asta Försti, Kari Hemminki, Timm Goecke

Cancer Lett· November 2008

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Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.
Ulrike Hennewig, Berit Hadzik, Markus Vogel, Thomas Meissner, Timm Goecke

J Hum Genet· August 2008

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MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases.
Stefanie Engert, Barbara Wappenschmidt, Beate Betz, Karin Kast, Michael Kutsche, Timm O Goecke

Hum Mutat· July 2008

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Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Anita Rauch, Christian T Thiel, Detlev Schindler, Ursula Wick, Yanick J Crow, Timm O Goecke

Science· February 2008

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Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium.
Timm Goecke, Karsten Schulmann, Christoph Engel, Elke Holinski-Feder, Constanze Pagenstecher

J Clin Oncol· September 2006

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Gene expression in acute Stanford type A dissection: a comparative microarray study.
Barbara Theresia Weis-Müller, Olga Modlich, Irina Drobinskaya, Derya Unay, Rita Huber, Timm Goecke

J Transl Med· July 2006

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Communicating BRCA1 and BRCA2 genetic test results.
Dorothea Gadzicki, Luzie U Wingen, Birgitta Teige, Denise Horn, Kristin Bosse, Timm Goecke

J Clin Oncol· June 2006

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Age of uptake of early cancer detection facilities by low-risk and high-risk patients with familial breast and ovarian cancer.
Michael Patrick Lux, Sven Ackermann, Mayada R Bani, Caroline Nestle-Krämling, Timm O Goecke

Eur J Cancer Prev· December 2005

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Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Valerie Schumacher, Tilman Vogel, Barbara Leube, Christiane Driemel, Timm Goecke

Hum Genet· May 2005

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Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Valerie Schumacher, Tilman Vogel, Barbara Leube, Christiane Driemel, Timm Goecke

Hum Genet· May 2005

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