Publications by authors named "Susanne Ledig"

20Publications

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Chantal Farra Ulrike Faust Ute Felbor Irene Feroce Miriam Fine William D Foulkes Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Perez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Marc Tischkowitz Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Katherine M Tucker Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 09;40(9):1557-1578

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6772163PMC
September 2019

Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients.

Mol Genet Genomic Med 2018 11 11;6(6):1225-1228. Epub 2018 Aug 11.

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

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http://doi.wiley.com/10.1002/mgg3.426
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http://dx.doi.org/10.1002/mgg3.426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305658PMC
November 2018

Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome.

Med Genet 2018 21;30(1):3-11. Epub 2018 Feb 21.

Institute of Human Genetics, Westfälische Wilhelms-Universität, Vesaliusweg 12-14, 48149 Münster, Germany.

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http://dx.doi.org/10.1007/s11825-018-0173-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838123PMC
February 2018

Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization.

Sex Dev 2017 1;11(5-6):248-253. Epub 2017 Dec 1.

Gerhard Domagk Institute of Pathology, University Hospital Münster, Münster, Germany.

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http://dx.doi.org/10.1159/000484915DOI Listing
October 2018

A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.

Sex Dev 2015 13;9(6):333-7. Epub 2016 Feb 13.

National Genetic Laboratory - UHOG x2018;Maichin dom', Sofia, Bulgaria.

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http://dx.doi.org/10.1159/000443807DOI Listing
October 2016

Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts.

Fertil Steril 2015 May 23;103(5):1313-8. Epub 2015 Mar 23.

Institute of Human Genetics, WWU Münster, Münster, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2015.02.014DOI Listing
May 2015

Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3).

Sex Dev 2015 11;9(2):86-90. Epub 2015 Feb 11.

Institute of Human Genetics, University Hospital Münster, Münster, Germany.

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http://dx.doi.org/10.1159/000373906DOI Listing
February 2016

DMRT1 mutations are rarely associated with male infertility.

Fertil Steril 2014 Sep 14;102(3):816-820.e3. Epub 2014 Jun 14.

Institute of Human Genetics, University of Münster, Münster, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2014.05.022DOI Listing
September 2014

Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development.

Eur J Endocrinol 2012 Jul 9;167(1):119-24. Epub 2012 May 9.

Institute of Human Genetics, Westfälische Wilhelms Universität Münster, Vesaliusweg 12-14, D-48149 Münster, Germany.

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http://dx.doi.org/10.1530/EJE-12-0136DOI Listing
July 2012

Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.

Fertil Steril 2011 Apr 24;95(5):1589-94. Epub 2010 Aug 24.

Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany.

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http://dx.doi.org/10.1016/j.fertnstert.2010.07.1062DOI Listing
April 2011

Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.

Prenat Diagn 2008 Jan;28(1):42-5

Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Germany.

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http://dx.doi.org/10.1002/pd.1904DOI Listing
January 2008

BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure.

Am J Obstet Gynecol 2008 Jan 12;198(1):84.e1-5. Epub 2007 Sep 12.

Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.1016/j.ajog.2007.05.029DOI Listing
January 2008

Novel and recurrent mutations in patients with androgen insensitivity syndromes.

Horm Res 2005 26;63(6):263-9. Epub 2005 May 26.

Institut für Humangenetik der Otto-von-Guericke-Universität Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.1159/000086018DOI Listing
October 2005

Helicobacter pylori -induced apoptosis in gastric epithelial cells is blocked by protein kinase C activation.

Microb Pathog 2002 Oct;33(4):167-75

Department of Pharmacology, Hannover Medical School, D-30625 Hannover, Germany.

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October 2002