Wolfram Heinritz

Wolfram Heinritz

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Wolfram Heinritz

Wolfram Heinritz

Publications by authors named "Wolfram Heinritz"

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Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

BMC Med Genet 2014 Nov 30;15:127. Epub 2014 Nov 30.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881
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http://dx.doi.org/10.1186/s12881-014-0127-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412025PMC
November 2014

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

Authors:
Anna Marie Mulligan Fergus J Couch Daniel Barrowdale Susan M Domchek Diana Eccles Heli Nevanlinna Susan J Ramus Mark Robson Mark Sherman Amanda B Spurdle Barbara Wappenschmidt Andrew Lee Lesley McGuffog Sue Healey Olga M Sinilnikova Ramunas Janavicius Thomas vO Hansen Finn C Nielsen Bent Ejlertsen Ana Osorio Iván Muñoz-Repeto Mercedes Durán Javier Godino Maroulio Pertesi Javier Benítez Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Elisa Cattaneo Bernardo Bonanni Alessandra Viel Barbara Pasini Laura Papi Laura Ottini Antonella Savarese Loris Bernard Paolo Radice Ute Hamann Martijn Verheus Hanne E J Meijers-Heijboer Juul Wijnen Encarna B Gómez García Marcel R Nelen C Marleen Kets Caroline Seynaeve Madeleine M A Tilanus-Linthorst Rob B van der Luijt Theo van Os Matti Rookus Debra Frost J Louise Jones D Gareth Evans Fiona Lalloo Ros Eeles Louise Izatt Julian Adlard Rosemarie Davidson Jackie Cook Alan Donaldson Huw Dorkins Helen Gregory Jacqueline Eason Catherine Houghton Julian Barwell Lucy E Side Emma McCann Alex Murray Susan Peock Andrew K Godwin Rita K Schmutzler Kerstin Rhiem Christoph Engel Alfons Meindl Ina Ruehl Norbert Arnold Dieter Niederacher Christian Sutter Helmut Deissler Dorothea Gadzicki Karin Kast Sabine Preisler-Adams Raymonda Varon-Mateeva Ines Schoenbuchner Britta Fiebig Wolfram Heinritz Dieter Schäfer Heidrun Gevensleben Virginie Caux-Moncoutier Marion Fassy-Colcombet François Cornelis Sylvie Mazoyer Mélanie Léoné Nadia Boutry-Kryza Agnès Hardouin Pascaline Berthet Danièle Muller Jean-Pierre Fricker Isabelle Mortemousque Pascal Pujol Isabelle Coupier Marine Lebrun Caroline Kientz Michel Longy Nicolas Sevenet Dominique Stoppa-Lyonnet Claudine Isaacs Trinidad Caldes Miguel de la Hoya Tuomas Heikkinen Kristiina Aittomäki Ignacio Blanco Conxi Lazaro Rosa B Barkardottir Penny Soucy Martine Dumont Jacques Simard Marco Montagna Silvia Tognazzo Emma D'Andrea Stephen Fox Max Yan Tim Rebbeck Olufunmilayo Olopade Jeffrey N Weitzel Henry T Lynch Patricia A Ganz Gail E Tomlinson Xianshu Wang Zachary Fredericksen Vernon S Pankratz Noralane M Lindor Csilla Szabo Kenneth Offit Rita Sakr Mia Gaudet Jasmine Bhatia Noah Kauff Christian F Singer Muy-Kheng Tea Daphne Gschwantler-Kaulich Anneliese Fink-Retter Phuong L Mai Mark H Greene Evgeny Imyanitov Frances P O'Malley Hilmi Ozcelik Gordon Glendon Amanda E Toland Anne-Marie Gerdes Mads Thomassen Torben A Kruse Uffe Birk Jensen Anne-Bine Skytte Maria A Caligo Maria Soller Karin Henriksson von Anna Wachenfeldt Brita Arver Marie Stenmark-Askmalm Per Karlsson Yuan Chun Ding Susan L Neuhausen Mary Beattie Paul D P Pharoah Kirsten B Moysich Katherine L Nathanson Beth Y Karlan Jenny Gross Esther M John Mary B Daly Saundra M Buys Melissa C Southey John L Hopper Mary Beth Terry Wendy Chung Alexander F Miron David Goldgar Georgia Chenevix-Trench Douglas F Easton Irene L Andrulis Antonis C Antoniou

Breast Cancer Res 2011 2;13(6):R110. Epub 2011 Nov 2.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK.

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http://dx.doi.org/10.1186/bcr3052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326552PMC
June 2012

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:
Fergus J Couch Mia M Gaudet Antonis C Antoniou Susan J Ramus Karoline B Kuchenbaecker Penny Soucy Jonathan Beesley Xiaoqing Chen Xianshu Wang Tomas Kirchhoff Lesley McGuffog Daniel Barrowdale Andrew Lee Sue Healey Olga M Sinilnikova Irene L Andrulis Hilmi Ozcelik Anna Marie Mulligan Mads Thomassen Anne-Marie Gerdes Uffe Birk Jensen Anne-Bine Skytte Torben A Kruse Maria A Caligo Anna von Wachenfeldt Gisela Barbany-Bustinza Niklas Loman Maria Soller Hans Ehrencrona Per Karlsson Katherine L Nathanson Timothy R Rebbeck Susan M Domchek Ania Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Elzbieta Zlowocka Tomasz Huzarski Tomasz Byrski Jacek Gronwald Cezary Cybulski Bohdan Górski Ana Osorio Mercedes Durán María Isabel Tejada Javier Benitez Ute Hamann Frans B L Hogervorst Theo A van Os Flora E van Leeuwen Hanne E J Meijers-Heijboer Juul Wijnen Marinus J Blok Marleen Kets Maartje J Hooning Rogier A Oldenburg Margreet G E M Ausems Susan Peock Debra Frost Steve D Ellis Radka Platte Elena Fineberg D Gareth Evans Chris Jacobs Rosalind A Eeles Julian Adlard Rosemarie Davidson Diana M Eccles Trevor Cole Jackie Cook Joan Paterson Carole Brewer Fiona Douglas Shirley V Hodgson Patrick J Morrison Lisa Walker Mary E Porteous M John Kennedy Lucy E Side Betsy Bove Andrew K Godwin Dominique Stoppa-Lyonnet Marion Fassy-Colcombet Laurent Castera François Cornelis Sylvie Mazoyer Mélanie Léoné Nadia Boutry-Kryza Brigitte Bressac-de Paillerets Olivier Caron Pascal Pujol Isabelle Coupier Capucine Delnatte Linda Akloul Henry T Lynch Carrie L Snyder Saundra S Buys Mary B Daly Marybeth Terry Wendy K Chung Esther M John Alexander Miron Melissa C Southey John L Hopper David E Goldgar Christian F Singer Christine Rappaport Muy-Kheng M Tea Anneliese Fink-Retter Thomas V O Hansen Finn C Nielsen Aðalgeir Arason Joseph Vijai Sohela Shah Kara Sarrel Mark E Robson Marion Piedmonte Kelly Phillips Jack Basil Wendy S Rubinstein John Boggess Katie Wakeley Amanda Ewart-Toland Marco Montagna Simona Agata Evgeny N Imyanitov Claudine Isaacs Ramunas Janavicius Conxi Lazaro Ignacio Blanco Lidia Feliubadalo Joan Brunet Simon A Gayther Paul P D Pharoah Kunle O Odunsi Beth Y Karlan Christine S Walsh Edith Olah Soo Hwang Teo Patricia A Ganz Mary S Beattie Elizabeth J van Rensburg Cecelia M Dorfling Orland Diez Ava Kwong Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Simone Heidemann Dieter Niederacher Sabine Preisler-Adams Dorothea Gadzicki Raymonda Varon-Mateeva Helmut Deissler Andrea Gehrig Christian Sutter Karin Kast Britta Fiebig Wolfram Heinritz Trinidad Caldes Miguel de la Hoya Taru A Muranen Heli Nevanlinna Marc D Tischkowitz Amanda B Spurdle Susan L Neuhausen Yuan Chun Ding Noralane M Lindor Zachary Fredericksen V Shane Pankratz Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Monica Barile Loris Bernard Alessandra Viel Giuseppe Giannini Liliana Varesco Paolo Radice Mark H Greene Phuong L Mai Douglas F Easton Georgia Chenevix-Trench Kenneth Offit Jacques Simard

Cancer Epidemiol Biomarkers Prev 2012 Apr 20;21(4):645-57. Epub 2012 Feb 20.

Departments of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1158/1055-9965.EPI-11-0888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319317PMC
April 2012

Association of death receptor 4 variant (683A > C) with ovarian cancer risk in BRCA1 mutation carriers.

Int J Cancer 2012 Mar 30;130(6):1314-8. Epub 2011 May 30.

Department of Gynecology and Obstetrics, Center for Integrated Oncology (CIO), Center for Familial Breast and Ovarian Cancer, University of Cologne, Cologne, Germany.

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http://doi.wiley.com/10.1002/ijc.26134
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http://dx.doi.org/10.1002/ijc.26134DOI Listing
March 2012

[Risperidone intoxication in a patient with a genetic predisposition as "poor [non]metabolizer"].

Psychiatr Prax 2010 May 11;37(4):199-201. Epub 2010 Mar 11.

Department für psychische Gesundheit, Klinik und Poliklinik für Psychiatrie, Universität Leipzig, Leipzig.

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http://dx.doi.org/10.1055/s-0029-1223511DOI Listing
May 2010

Evaluation of IP-RP-HPLC for length determination of the trinucleotide repeat fragments in Huntington's disease.

J Chromatogr Sci 2010 Jan;48(1):55-8

Institute of Human Genetics, University of Leipzig, Philipp-Rosenthal-Str. 55, 04103 Leipzig, Germany.

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http://dx.doi.org/10.1093/chromsci/48.1.55DOI Listing
January 2010

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

Ann Hum Genet 2009 May 25;73(Pt 3):283-91. Epub 2009 Mar 25.

Institute of Human Genetics, Medical Faculty at the University of Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1111/j.1469-1809.2009.00508.xDOI Listing
May 2009

Different phenotypes including gynecological cancer in three female patients with Peutz-Jeghers syndrome and mutations in the STK11 gene.

Onkologie 2008 Nov 27;31(11):625-8. Epub 2008 Oct 27.

Institute of Human Genetics, Medical Faculty at the University of Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1159/000162284DOI Listing
November 2008

Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.

Graefes Arch Clin Exp Ophthalmol 2008 Oct 24;246(10):1441-7. Epub 2008 May 24.

Department of Ophthalmology, Martin Luther University Halle, Ernst-Grube-Str. 40, 06097 Halle, Germany.

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http://dx.doi.org/10.1007/s00417-008-0836-1DOI Listing
October 2008

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

BMC Med Genet 2008 Oct 1;9:88. Epub 2008 Oct 1.

Institut für Humangenetik und Anthropologie, Universität Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1186/1471-2350-9-88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567295PMC
October 2008

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

Am J Med Genet A 2006 Jun;140(11):1223-7

Institute of Human Genetics, University of Leipzig--Medical Faculty, Leipzig, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31267DOI Listing
June 2006

Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).

J Pediatr Hematol Oncol 2006 Mar;28(3):123-5

Pediatric Hematology Unit, Department of Pediatrics, Selçuk University, Meram Faculty of Medicine, Konya, Turkey.

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http://dx.doi.org/10.1097/01.mph.0000199590.21797.0bDOI Listing
March 2006

MYH Gene Status in Polish FAP Patients without APC Gene Mutations.

Hered Cancer Clin Pract 2006 Jan 15;4(1):43-7. Epub 2006 Jan 15.

Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.

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http://dx.doi.org/10.1186/1897-4287-4-1-43DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3401920PMC
January 2006

The human TBX5 gene mutation database.

Hum Mutat 2005 Oct;26(4):397

Institute of Human Genetics, University of Leipzig, Medical Faculty, Leipzig, Germany.

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http://dx.doi.org/10.1002/humu.9375DOI Listing
October 2005

Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome.

Am J Med Genet A 2005 Jan;132A(2):198-201

Institute of Human Genetics, University of Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1002/ajmg.a.30446DOI Listing
January 2005