Publications by authors named "Susanne Ledig"

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Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
Margot J Wyrwoll, Nils Köckerling, Matthias Vockel, Ann-Kristin Dicke, Nadja Rotte, Susanne Ledig

Eur Urol· May 2023

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Prevalence of Pathogenic Germline Variants in Women with Non-Familial Unilateral Triple-Negative Breast Cancer.
Kerstin Rhiem, Silke Zachariae, Anke Waha, Sabine Grill, Anna Hester, Susanne Ledig

Breast Care (Basel)· May 2023

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Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.
Umut Altunoglu, Esra Börklü, Anju Shukla, Nathalie Escande-Beillard, Susanne Ledig

Clin Genet· February 2022

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Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
Margot J Wyrwoll, Şehime G Temel, Liina Nagirnaja, Manon S Oud, Alexandra M Lopes, Susanne Ledig

Am J Hum Genet· August 2020

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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Michael T Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Susanne Ledig

Hum Mutat· September 2019

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Sequence Variants in TBX6 Are Associated with Disorders of the Müllerian Ducts: An Update.
Ann-Christin Tewes, Jürgen Hucke, Thomas Römer, Karina Kapczuk, Cordula Schippert, Susanne Ledig

Sex Dev· August 2019

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Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients.
Thomas Eggermann, Susanne Ledig, Matthias Begemann, Miriam Elbracht, Ingo Kurth

Mol Genet Genomic Med· November 2018

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Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization.
Jan Rehkämper, Ann-Christin Tewes, Judit Horvath, Gerd Scherer, Peter Wieacker, Susanne Ledig

Sex Dev· October 2018

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Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome.
Susanne Ledig, Peter Wieacker

Med Genet· February 2018

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New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria.
Silvia Andonova, Ralitsa Robeva, Radoslava Vazharova, Susanne Ledig, Liliana Grozdanova

Sex Dev· November 2017

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A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.
Silvia Andonova, Ralitsa Robeva, Milko Sirakov, Karela Mainhard, Analia Tomova, Susanne Ledig

Sex Dev· October 2016

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Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3).
Susanne Ledig, Sabine Preisler-Adams, Susanne Morlot, Thomas Liehr, Peter Wieacker

Sex Dev· February 2016

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Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts.
Ann-Christin Tewes, Kristin Katharina Rall, Thomas Römer, Jürgen Hucke, Karina Kapczuk, Susanne Ledig

Fertil Steril· May 2015

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DMRT1 mutations are rarely associated with male infertility.
Ann-Christin Tewes, Susanne Ledig, Frank Tüttelmann, Sabine Kliesch, Peter Wieacker

Fertil Steril· September 2014

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Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development.
Susanne Ledig, Olaf Hiort, Lutz Wünsch, Peter Wieacker

Eur J Endocrinol· July 2012

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Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
Susanne Ledig, Cordula Schippert, Reiner Strick, Matthias W Beckmann, Patricia G Oppelt

Fertil Steril· April 2011

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Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome.
Frank Tüttelmann, Manuela Simoni, Sabine Kliesch, Susanne Ledig, Bernd Dworniczak

PLoS One· April 2011

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WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
Axel Bohring, Thomas Stamm, Christiane Spaich, Claudia Haase, Kerstin Spree, Susanne Ledig

Am J Hum Genet· July 2009

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BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure.
Susanne Ledig, Albrecht Röpke, Gabriele Haeusler, Bernd Hinney, Peter Wieacker

Am J Obstet Gynecol· January 2008

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Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.
Solveig Schulz, Claudia Gerloff, Susanne Ledig, Dorothea Langer, Mariannne Volleth

Prenat Diagn· January 2008

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Novel and recurrent mutations in patients with androgen insensitivity syndromes.
Susanne Ledig, Sibylle Jakubiczka, Joseph Neulen, Ute Aulepp, Uta Burck-Lehmann

Horm Res· October 2005

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Effect of H. pylori on the expression of TRAIL, FasL and their receptor subtypes in human gastric epithelial cells and their role in apoptosis.
Jan Hendrik Martin, Andrej Potthoff, Susanne Ledig, Markus Cornberg, Oliver Jandl

Helicobacter· October 2004

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Helicobacter pylori -induced apoptosis in gastric epithelial cells is blocked by protein kinase C activation.
Barbara Obst, Silke Schütz, Susanne Ledig, Siegfried Wagner, Winfried Beil

Microb Pathog· October 2002

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