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Elisabeth Mangold

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Heide Fier; Rolf Fimmers; Taofik AlChawa; Kerstin U Ludwig; Elisabeth Mangold; Marcello Pagano; Dmitry Prokopenko; Edwin K Silverman; Sungho Won; Christoph Lange
'Location, Location, Location': a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate.
Entessar Nasser; Markus M Nöthen; Stefanie Nowak; Bernd Pötzsch; Rudolf H Reich; Heiko Reutter; Daniela C Tradowsky; Philipp Wahle; Sandra Barth; Jessica Becker; Anne C Boehmer; Bert Braumann; Heide Fier; Nadine Fricker; Alexander Hemprich; Ruth Herberz; Per Hoffmann; Michael Knapp; Franz-Josef Kramer; Thomas Kreusch; Christoph Lange; Carola Lauster; Elisabeth Mangold; Kerstin U Ludwig
Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate.
Elisabeth Mangold; Sergio G Muñoz-Jiménez; Markus M Nöthen; Stefanie Nowak; Rocío Ortiz-López; Mario Paredes-Zenteno; Heiko Reutter; Abelardo Arizpe-Cantú; Stefan Herms; Michael Knapp; Franz-Josef Kramer; Rafael B R León-Cachón; Kerstin U Ludwig; Thomas F Wienker; Óscar Chacón-Camacho; Augusto Rojas-Martínez
Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate.

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All Publications

2012: Heide Fier; Rolf Fimmers; Taofik AlChawa; Kerstin U Ludwig; Elisabeth Mangold; Marcello Pagano; Dmitry Prokopenko; Edwin K Silverman; Sungho Won; Christoph Lange
'Location, Location, Location': a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate.
Bioinformatics (Oxford, England) 2012;28(23):3027-33.
2012: Entessar Nasser; Markus M Nöthen; Stefanie Nowak; Bernd Pötzsch; Rudolf H Reich; Heiko Reutter; Daniela C Tradowsky; Philipp Wahle; Sandra Barth; Jessica Becker; Anne C Boehmer; Bert Braumann; Heide Fier; Nadine Fricker; Alexander Hemprich; Ruth Herberz; Per Hoffmann; Michael Knapp; Franz-Josef Kramer; Thomas Kreusch; Christoph Lange; Carola Lauster; Elisabeth Mangold; Kerstin U Ludwig
Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate.
Birth defects research. Part A, Clinical and molecular teratology 2012;94(11):925-33.
2012: Elisabeth Mangold; Sergio G Muñoz-Jiménez; Markus M Nöthen; Stefanie Nowak; Rocío Ortiz-López; Mario Paredes-Zenteno; Heiko Reutter; Abelardo Arizpe-Cantú; Stefan Herms; Michael Knapp; Franz-Josef Kramer; Rafael B R León-Cachón; Kerstin U Ludwig; Thomas F Wienker; Óscar Chacón-Camacho; Augusto Rojas-Martínez
Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate.
European journal of oral sciences 2012;120(5):373-7.
2012: Kaustubh Adhikari; Taofik AlChawa; Nan Laird; Kerstin Ludwig; Elisabeth Mangold; Christoph Lange
Is it rare or common?
Genetic epidemiology 2012;36(5):419-29.
2011: Peter J Lipman; Kerstin U Ludwig; Elisabeth Mangold; Wai-Ki Yip; Taofik AlChawa; Christoph Lange
On the analysis of sequence data: testing for disease susceptibility loci using patterns of linkage disequilibrium.
Genetic epidemiology 2011;35(8):880-6.
2011: Elisabeth Mangold; Kerstin U Ludwig; Markus M Nöthen
Breakthroughs in the genetics of orofacial clefting.
Trends in molecular medicine 2011;17(12):725-33.
2011: Stefan Boehringer; Monique M B Breteler; Manuel Günther; Ruth Herberz; Albert Hofman; Bernhard Horsthemke; Stefan Klein; Fan Liu; Kerstin U Ludwig; Elisabeth Mangold; Wiro J Niessen; Markus M Nöthen; Stefanie Nowak; Stella Sinigerova; Andre G Uitterlinden; Fedde van der Lijn; Aad van Der Lugt; Dagmar Wieczorek; Rolf P Würtz; Manfred Kayser
Genetic determination of human facial morphology: links between cleft-lips and normal variation.
European journal of human genetics : EJHG 2011;19(11):1192-7.
2011: Michella Ghassibe-Sabbagh; Laurence Desmyter; Tobias Langenberg; Filip Claes; Odile Boute; Bénédicte Bayet; Philippe Pellerin; Karlien Hermans; Liesbeth Backx; Maria Adela Mansilla; Sandra Imoehl; Stefanie Nowak; Kerstin U Ludwig; Carlotta Baluardo; Melissa Ferrian; Peter Anthony Mossey; Markus Noethen; Mieke Dewerchin; Geneviève François; Nicole Revencu; Romain Vanwijck; Jacqueline Hecht; Elisabeth Mangold; Jeffrey Murray; Michele Rubini; Joris R Vermeesch; Hélène A Poirel; Peter Carmeliet; Miikka Vikkula
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.
American journal of human genetics 2011;88(2):150-61.
2011: Nilma Almeida de Assis; Stefanie Nowak; Kerstin U Ludwig; Heiko Reutter; Jennifer Vollmer; Stefanie Heilmann; Nadine Kluck; Carola Lauster; Bert Braumann; Rudolf H Reich; Alexander Hemprich; Michael Knapp; Thomas F Wienker; Franz-Josef Kramer; Per Hoffmann; Markus M Nöthen; Elisabeth Mangold
SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in Central European patients.
International journal of pediatric otorhinolaryngology 2011;75(1):49-52.
2010: Augusto Rojas-Martinez; Heiko Reutter; Oscar Chacon-Camacho; Rafael B R Leon-Cachon; Sergio G Munoz-Jimenez; Stefanie Nowak; Jessica Becker; Ruth Herberz; Kerstin U Ludwig; Mario Paredes-Zenteno; Abelardo Arizpe-Cantú; Susanne Raeder; Stefan Herms; Rocio Ortiz-Lopez; Michael Knapp; Per Hoffmann; Markus M Nöthen; Elisabeth Mangold
Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25.
Birth defects research. Part A, Clinical and molecular teratology 2010;88(7):535-7.
2010: Tiit Nikopensius; Stefanie Birnbaum; Kerstin U Ludwig; Triin Jagomägi; Mare Saag; Stefan Herms; Michael Knapp; Per Hoffmann; Markus M Nöthen; Andres Metspalu; Elisabeth Mangold
Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients.
European journal of oral sciences 2010;118(3):317-9.
2009: Stefanie Birnbaum; Kerstin U Ludwig; Heiko Reutter; Stefan Herms; Nilma A de Assis; Amalia Diaz-Lacava; Sandra Barth; Carola Lauster; Gül Schmidt; Martin Scheer; Mitra Saffar; Markus Martini; Rudolf H Reich; Franziska Schiefke; Alexander Hemprich; Simone Pötzsch; Bernd Pötzsch; Thomas F Wienker; Per Hoffmann; Michael Knapp; Franz-Josef Kramer; Markus M Nöthen; Elisabeth Mangold
IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate.
European journal of oral sciences 2009;117(6):766-9.
2009: Elisabeth Mangold; Heiko Reutter; Stefanie Birnbaum; Maja Walier; Manuel Mattheisen; Henning Henschke; Carola Lauster; Gül Schmidt; Franziska Schiefke; Rudolf H Reich; Martin Scheer; Alexander Hemprich; Markus Martini; Bert Braumann; Michael Krimmel; Charlotte Opitz; Jan-Hendrik Lenz; Franz-Josef Kramer; Thomas F Wienker; Markus M Nöthen; Amalia Diaz-Lacava
Genome-wide linkage scan of nonsyndromic orofacial clefting in 91 families of central European origin.
American journal of medical genetics. Part A 2009;149A(12):2680-94.
2009: Heiko Reutter; Stefanie Birnbaum; Meinhard Mende; Nilma Almeida de Assis; Per Hoffmann; Amalia Diaz Lacava; Stefan Herms; Bert Braumann; Martin Scheer; Carola Lauster; Gül Schmidt; Franziska Schiefke; Anton Dunsche; Markus Martini; Michael Knapp; Franz-Josef Kramer; Markus M Nöthen; Elisabeth Mangold
Transforming growth factor-beta receptor type 1 (TGFBR1) is not associated with non-syndromic cleft lip with or without cleft palate in patients of Central European descent.
International journal of pediatric otorhinolaryngology 2009;73(10):1334-8.
2009: Stefanie Birnbaum; Heiko Reutter; Meinhard Mende; Nilma A de Assis; Amalia Diaz-Lacava; Stefan Herms; Martin Scheer; Carola Lauster; Bert Braumann; Gül Schmidt; Markus Martini; Alexander Hemprich; Simone Pötzsch; Michael Knapp; Markus M Nöthen; Franz-Josef Kramer; Elisabeth Mangold
Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate.
European journal of oral sciences 2009;117(2):200-3.
2009: Astrid Kaufmann; Stefanie Vogt; Siegfried Uhlhaas; Dietlinde Stienen; Ingo Kurth; Horst Hameister; Elisabeth Mangold; Judith Kötting; Elke Kaminsky; Peter Propping; Waltraut Friedl; Stefan Aretz
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.
The Journal of molecular diagnostics : JMD 2009;11(2):131-9.
2008: Nils Rahner; Gerald Höefler; Christoph Högenauer; Caroline Lackner; Verena Steinke; Marlies Sengteller; Waltraut Friedl; Stefan Aretz; Peter Propping; Elisabeth Mangold; Constanze Walldorf
Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.
American journal of medical genetics. Part A 2008;146A(10):1314-9.
2008: Stefanie Birnbaum; Heiko Reutter; Carola Lauster; Martin Scheer; Gül Schmidt; Mitra Saffar; Markus Martini; Alexander Hemprich; Henning Henschke; Franz-Josef Kramer; Elisabeth Mangold
Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance.
American journal of medical genetics. Part A 2008;146A(6):787-90.
2008: Heiko Reutter; Stefanie Birnbaum; Meinhard Mende; Carola Lauster; Gül Schmidt; Henning Henschke; Mitra Saffar; Markus Martini; Roland Lauster; Franziska Schiefke; Rudolf H Reich; Bert Braumann; Martin Scheer; Michael Knapp; Markus M Nöthen; Franz-Josef Kramer; Elisabeth Mangold
TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate.
Journal of human genetics 2008;53(7):656-61.
2008: Nils Rahner; Nicolaus Friedrichs; V Steinke; Stefan Aretz; Waltraut Friedl; Reinhard Buettner; Elisabeth Mangold; Peter Propping; Constanze Walldorf
Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome.
The Journal of pathology 2008;214(1):10-6.
2007: Stefan Krüger; Christoph Engel; Andrea Bier; Ann-Sophie Silber; Heike Görgens; Elisabeth Mangold; Constanze Pagenstecher; Elke Holinski-Feder; Magnus von Knebel Doeberitz; Brigitte Royer-Pokora; Stefan Dechant; Christian Pox; Nils Rahner; Annegret Müller; Hans K Schackert
The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1.
Cancer letters 2007;252(1):55-64.
2007: Constanze Pagenstecher; Dorothea Gadzicki; Dietlinde Stienen; Siegfried Uhlhaas; Elisabeth Mangold; Nils Rahner; Mine Arslan-Kirchner; Peter Propping; Waltraut Friedl; Stefan Aretz
A complex rearrangement in the APC gene uncovered by multiplex ligation-dependent probe amplification.
The Journal of molecular diagnostics : JMD 2007;9(1):122-6.
2007: Stefanie Birnbaum; Heiko Reutter; Meinhard Mende; Amalia Díaz-Lacava; Henning Henschke; Stefaan Bergé; Bert Braumann; Carola Lauster; Alexander Hemprich; Matthias Wenghoefer; Mitra Saffar; Rudolf H Reich; Martin Scheer; Michael Knapp; Franz-Josef Kramer; Elisabeth Mangold
A family-based association study in Central Europeans: no evidence for the cystathionine beta-synthase c.844ins68 gene variant as a risk factor for non-syndromic cleft lip and palate.
American journal of medical genetics. Part A 2007;143(2):205-7.
2007: Nils Rahner; Nicolaus Friedrichs; Maria Wehner; Verena Steinke; Stefan Aretz; Waltraut Friedl; Reinhard Buettner; Elisabeth Mangold; Peter Propping; Constanze Walldorf
Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome.
Acta oncologica (Stockholm, Sweden) 2007;46(6):763-9.
2007: Elisabeth Mangold; Nils Rahner; Nicolaus Friedrichs; Reinhard Buettner; Constanze Pagenstecher; Stefan Aretz; Waltraut Friedl; Thomas Ruzicka; Peter Propping; Arno Rütten; Roland Kruse
MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?
The British journal of dermatology 2007;156(1):158-62.
2006: Saara Ollila; Laura Sarantaus; Reetta Kariola; Philip Chan; Heather Hampel; Elke Holinski-Feder; Finlay Macrae; M R J Kohonen-Corish; Anne-Marie Gerdes; Päivi Peltomäki; Elisabeth Mangold; Albert de La Chapelle; Marc S Greenblatt; Minna Nyström
Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
Gastroenterology 2006;131(5):1408-17.
2006: Timm Goecke; Karsten Schulmann; Christoph Engel; Elke Holinski-Feder; Constanze Pagenstecher; Hans K Schackert; Matthias Kloor; Erdmute Kunstmann; Holger Vogelsang; Gisela Keller; Wolfgang Dietmaier; Elisabeth Mangold; Nicolaus Friedrichs; Peter Propping; Stefan Krüger; Johannes Gebert; Wolff Schmiegel; Josef Rueschoff; Markus Loeffler; Gabriela Moeslein
Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2006;24(26):4285-92.
2006: Steffen Pistorius; Heike Görgens; Stefan Krüger; Christoph Engel; Elisabeth Mangold; Constanze Pagenstecher; Elke Holinski-Feder; Gabriela Moeslein; Magnus von Knebel Doeberitz; Josef Rüschoff; Judith Karner-Hanusch; Hans-Detlev Saeger; Hans K Schackert
N-acetyltransferase (NAT) 2 acetylator status and age of onset in patients with hereditary nonpolyposis colorectal cancer (HNPCC).
Cancer letters 2006;241(1):150-7.
2006: Stefan Aretz; Siegfried Uhlhaas; Heike Goergens; Kirsten Siberg; Matthias Vogel; Constanze Pagenstecher; Elisabeth Mangold; Reiner Caspari; Peter Propping; Waltraut Friedl
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.
International journal of cancer. Journal international du cancer 2006;119(4):807-14.
2006: Stefan Krüger; Christoph Engel; Andrea Bier; Elisabeth Mangold; Constanze Pagenstecher; Magnus von Knebel Doeberitz; Elke Holinski-Feder; Gabriela Moeslein; Gisela Keller; Erdmute Kunstmann; Waltraut Friedl; Jens Plaschke; Josef Rüschoff; Hans K Schackert
Absence of association between cyclin D1 (CCND1) G870A polymorphism and age of onset in hereditary nonpolyposis colorectal cancer.
Cancer letters 2006;236(2):191-7.
2006: Constanze Pagenstecher; Maria Wehner; Waltraut Friedl; Nils Rahner; Stefan Aretz; Nicolaus Friedrichs; Marlies Sengteller; Wolfram Henn; Reinhard Buettner; Peter Propping; Elisabeth Mangold
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
Human genetics 2006;119(1-2):9-22.
2006: Christof Lamberti; Elisabeth Mangold; Constanze Pagenstecher; Matthias Jungck; D Schwering; Magdolna Bollmann; J Vogel; D Kindermann; R Nikorowitsch; Nicolaus Friedrichs; B Schneider; Farzad Houshdaran; Ingo G H Schmidt-Wolf; Waltraut Friedl; Peter Propping; Tilman Sauerbruch; Reinhard Büttner; Micaela Mathiak
Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany.
Digestion 2006;74(1):58-67.
2006: Saara Ollila; Roslyn Fitzpatrick; Laura Sarantaus; Reetta Kariola; Ingrid Ambus; Lea Velsher; Eugene Hsieh; Mette K Andersen; Tiina E Raevaara; Anne-Marie Gerdes; Elisabeth Mangold; Päivi Peltomäki; Henry T Lynch; Minna Nyström
The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC.
International journal of oncology 2006;28(1):149-53.
2006: Christoph Engel; Jochen Forberg; Elke Holinski-Feder; Constanze Pagenstecher; Jens Plaschke; Matthias Kloor; Christopher Poremba; Christian Pox; Josef Rüschoff; Gisela Keller; Wolfgang Dietmaier; Petra Rümmele; Nicolaus Friedrichs; Elisabeth Mangold; Reinhard Buettner; Hans K Schackert; Peter Kienle; Susanne Stemmler; Gabriela Moeslein; Markus Loeffler
Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer.
International journal of cancer. Journal international du cancer 2006;118(1):115-22.
2005: Stefan Aretz; Dietlinde Stienen; Siegfried Uhlhaas; Steffan Loff; Walter Back; Constanze Pagenstecher; D Ross McLeod; Gail E Graham; Elisabeth Mangold; René Santer; Peter Propping; Waltraut Friedl
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.
Human mutation 2005;26(6):513-9.
2005: Elisabeth Mangold; Constanze Pagenstecher; Waltraut Friedl; Hans-Peter Fischer; Sabine Merkelbach-Bruse; Maike Ohlendorf; Nicolaus Friedrichs; Stefan Aretz; Reinhard Buettner; Peter Propping; Micaela Mathiak
Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining.
The Journal of pathology 2005;207(4):385-95.
2005: Stefan Krüger; Andrea Bier; Christoph Engel; Elisabeth Mangold; Constanze Pagenstecher; Magnus von Knebel Doeberitz; Elke Holinski-Feder; Gabriela Moeslein; Karsten Schulmann; Jens Plaschke; Josef Rüschoff; Hans K Schackert
The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC).
Journal of medical genetics 2005;42(10):769-73.
2005: Elisabeth Mangold; Constanze Pagenstecher; Waltraut Friedl; Micaela Mathiak; Reinhard Buettner; Christoph Engel; Markus Loeffler; Elke Holinski-Feder; Yvonne Müller-Koch; Gisela Keller; Hans K Schackert; Stefan Krüger; Timm Goecke; Gabriela Moeslein; Matthias Kloor; Johannes Gebert; Erdmute Kunstmann; Karsten Schulmann; Josef Rüschoff; Peter Propping
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
International journal of cancer. Journal international du cancer 2005;116(5):692-702.
2005: Tiina E Raevaara; Mari K Korhonen; Hannes Lohi; Heather Hampel; Elly Lynch; Karin E Lönnqvist; Elke Holinski-Feder; Christian Sutter; Wendy McKinnon; Sekhar Duraisamy; Anne-Marie Gerdes; Päivi Peltomäki; Maija Kohonen-Ccorish; Elisabeth Mangold; Finlay Macrae; Marc S Greenblatt; Albert de La Chapelle; Minna Nyström
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Gastroenterology 2005;129(2):537-49.
2005: Stefan Krüger; Ann-Sophie Silber; Christoph Engel; Heike Görgens; Elisabeth Mangold; Constanze Pagenstecher; Elke Holinski-Feder; Magnus von Knebel Doeberitz; Gabriela Moeslein; Wolfgang Dietmaier; Susanne Stemmler; Waltraut Friedl; Josef Rüschoff; Hans K Schackert
Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study.
The lancet oncology 2005;6(8):566-72.
2005: Maria Wehner; Elisabeth Mangold; Marlies Sengteller; Nicolaus Friedrichs; Stefan Aretz; Waltraut Friedl; Peter Propping; Constanze Pagenstecher
Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.
European journal of human genetics : EJHG 2005;13(8):983-6.
2005: Karsten Schulmann; Frank Brasch; Erdmute Kunstmann; Christoph Engel; Constanze Pagenstecher; Holger Vogelsang; Stefan Krüger; Tilman Vogel; Hanns-Peter Knaebel; Josef Rüschoff; Stephan Hahn; Magnus V Knebel-Doeberitz; Gabriela Moeslein; Meltzer Stephen J.; Hans K Schackert; Christiane Tympner; Elisabeth Mangold; Wolff Schmiegel
HNPCC-associated small bowel cancer: clinical and molecular characteristics.
Gastroenterology 2005;128(3):590-9.
2005: Stefan Aretz; Dietlinde Stienen; Siegfried Uhlhaas; Constanze Pagenstecher; Elisabeth Mangold; Reiner Caspari; Peter Propping; Waltraut Friedl
Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis.
Journal of medical genetics 2005;42(2):185-92.
2004: Jens Plaschke; Christoph Engel; Stefan Krüger; Elke Holinski-Feder; Constanze Pagenstecher; Elisabeth Mangold; Gabriela Moeslein; Karsten Schulmann; Johannes Gebert; Magnus von Knebel Doeberitz; Josef Rüschoff; Markus Loeffler; Hans K Schackert
Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2004;22(22):4486-94.
2004: Annegret Müller; Giuseppe Giuffre; Tina Bocker Edmonston; Micaela Mathiak; Beate Roggendorf; Ernst Heinmöller; Thomas Brodegger; Giovanni Tuccari; Elisabeth Mangold; Reinhard Buettner; Josef Rüschoff
Challenges and pitfalls in HNPCC screening by microsatellite analysis and immunohistochemistry.
The Journal of molecular diagnostics : JMD 2004;6(4):308-15.
2004: Stefan Aretz; Siegfried Uhlhaas; Yuli Sun; Constanze Pagenstecher; Elisabeth Mangold; Reiner Caspari; Gabriela Möslein; Karsten Schulmann; Peter Propping; Waltraut Friedl
Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
Human mutation 2004;24(5):370-80.
2004: Elisabeth Mangold; Constanze Pagenstecher; M Leister; Micaela Mathiak; Arno Rütten; Waltraut Friedl; Peter Propping; T Ruzicka; Roland Kruse
A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.
Journal of medical genetics 2004;41(7):567-72.
2004: Jens Plaschke; Stefan Krüger; Wolfgang Dietmaier; Johannes Gebert; Christian Sutter; Elisabeth Mangold; Constanze Pagenstecher; Elke Holinski-Feder; Karsten Schulmann; Gabriela Möslein; Josef Rüschoff; Christoph Engel; Gareth Evans; Hans K Schackert
Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.
Human mutation 2004;23(3):285.
2004: Stefan Aretz; Siegfried Uhlhaas; Reiner Caspari; Elisabeth Mangold; Constanze Pagenstecher; Peter Propping; Waltraut Friedl
Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.
European journal of human genetics : EJHG 2004;12(1):52-8.
2003: Peter Behrens; Micaela Mathiak; Elisabeth Mangold; Simona Kirdorf; Axel Wellmann; Franz Fogt; Marcus Rothe; Alexandra Florin; Nicolas Wernert
Stromal expression of invasion-promoting, matrix-degrading proteases MMP-1 and -9 and the Ets 1 transcription factor in HNPCC carcinomas and sporadic colorectal cancers.
International journal of cancer. Journal international du cancer 2003;107(2):183-8.
2003: Roland Kruse; Arno Rütten; Nadine Schweiger; Eva Jakob; Micaela Mathiak; Peter Propping; Elisabeth Mangold; Michele Bisceglia; Thomas Ruzicka
Frequency of microsatellite instability in unselected sebaceous gland neoplasias and hyperplasias.
The Journal of investigative dermatology 2003;120(5):858-64.
2003: Yaping Wang; Waltraut Friedl; Christof Lamberti; Matthias Jungck; Micaela Mathiak; Constanze Pagenstecher; Peter Propping; Elisabeth Mangold
Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes.
International journal of cancer. Journal international du cancer 2003;103(5):636-41.
2002: Tiina E Raevaara; T Timoharju; Karin E Lönnqvist; Reetta Kariola; M Steinhoff; Robert M W Hofstra; Elisabeth Mangold; Yvonne J Vos; Minna Nyström-Lahti
Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer.
Journal of medical genetics 2002;39(10):747-50.
2002: Waltraut Friedl; Siegfried Uhlhaas; Karsten Schulmann; Manfred Stolte; Steffan Loff; Walter Back; Elisabeth Mangold; Martin Stern; Hanns-Peter Knaebel; Christian Sutter; Ruthild G Weber; Steffen Pistorius; Bettina Burger; Peter Propping
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.
Human genetics 2002;111(1):108-11.
2002: Bettina Burger; Siegfried Uhlhaas; Elisabeth Mangold; Peter Propping; Waltraut Friedl; Dieter E Jenne; Gerhard Dockter; Walter Back
Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposis.
American journal of medical genetics 2002;110(3):289-91.
2002: Micaela Mathiak; Arno Rütten; Elisabeth Mangold; Hans-Peter Fischer; Thomas Ruzicka; Waltraut Friedl; Peter Propping; Roland Kruse
Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test.
The American journal of surgical pathology 2002;26(3):338-43.
2002: Yaping Wang; Waltraut Friedl; Marlies Sengteller; Matthias Jungck; Isabel Filges; Peter Propping; Elisabeth Mangold
A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1.
Human mutation 2002;19(3):279-86.
2001: Waltraut Friedl; Elisabeth Mangold; Reiner Caspari; Christof Lamberti; Peter Propping
Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis.
Gastroenterology 2001;121(2):503-4.
2001: Waltraut Friedl; Reiner Caspari; Marlies Sengteller; Siegfried Uhlhaas; Christof Lamberti; Matthias Jungck; Martina Kadmon; M Wolf; J Fahnenstich; Johannes Gebert; Gabriela Möslein; Elisabeth Mangold; Peter Propping
Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families.
Gut 2001;48(4):515-21.
2001: Elisabeth Mangold; Waltraut Friedl; Peter Propping
[Hereditary colorectal carcinoma: predictive diagnosis and genetic counseling].
Praxis 2001;90(12):490-6.
2001: Roland Kruse; Arno Rütten; HR Hosseiny-Malayeri; Michele Bisceglia; Waltraut Friedl; Peter Propping; Thomas Ruzicka; Elisabeth Mangold
"Second hit" in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: allele loss is not the preferred mode of inactivation.
The Journal of investigative dermatology 2001;116(3):463-5.
2001: Elke Holinski-Feder; Yvonne Müller-Koch; Waltraut Friedl; Gabriela Moeslein; Gisela Keller; Jens Plaschke; W Ballhausen; Manfred Gross; K Baldwin-Jedele; Matthias Jungck; Elisabeth Mangold; Holger Vogelsang; Hans K Schackert; P Lohsea; Jan Murken; Thomas Meitinger
DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2.
Journal of biochemical and biophysical methods 2001;47(1-2):21-32.
2000: Elisabeth Mangold; Helmut M Diepolder; Peter Lohse; Gerd R Pape; MM Ritter
[59-year-old patient with cutaneous lesions and increased iron metabolism parameters].
Der Internist 2000;41(10):1103-7.