S. Ledig

发表

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

S. Brucker, P. Wieacker, A. Tewes, 2015, Fertility and sterility.

Significance of the Caspase Family in Helicobacter pylori Induced Gastric Epithelial Apoptosis

M. Manns, A. Potthoff, W. Beil, 2002, Helicobacter.

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

W. Beil, S. Wagner, B. Obst, 2002, Microbial pathogenesis.

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

A. Savov, A. Tomova, P. Kumanov, 2016, Sexual Development.

Clinical and genetic aspects of Mayer–Rokitansky–Küster–Hauser syndrome

P. Wieacker, S. Ledig, 2018, medizinische genetik.

Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.

S. Brucker, P. Wieacker, K. Rall, 2012, Human reproduction.

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

M. Beckmann, P. Oppelt, P. Wieacker, 2011, Fertility and sterility.

Premature Ovarian Failure Caused by a Heterozygous Missense Mutation in POF1B and a Reciprocal Translocation 46,X,t(X;3)(q21.1;q21.3)

T. Liehr, P. Wieacker, S. Preisler‐Adams, 2015, Sexual Development.

New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria

P. Wieacker, T. Todorov, A. Savov, 2017, Sexual Development.

Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis

H. Kayserili, K. Girisha, A. Shukla, 2021, Clinical genetics.

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

P. Wieacker, G. Scherer, J. Horváth, 2017, Sexual Development.

WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

S. Sel, C. Spaich, A. Röpke, 2009, American journal of human genetics.

Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome

B. Dworniczak, A. Röpke, P. Wieacker, 2011, PloS one.

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

P. Wieacker, L. Wünsch, O. Hiort, 2012, European journal of endocrinology.

Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.

P. Wieacker, O. Hiort, G. Scherer, 2010, Human reproduction.

Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.

M. J. Xavier, D. Conrad, J. Veltman, 2020, American journal of human genetics.

Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.

C. Ruckert, A. Röpke, J. Seggewiss, 2022, European urology.

Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility

D. Conrad, J. Veltman, S. Kahraman, 2019, bioRxiv.

DMRT1 mutations are rarely associated with male infertility.

P. Wieacker, S. Kliesch, F. Tüttelmann, 2014, Fertility and sterility.

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

Katherine M. Tucker, Sebastian A. Wagner, Kelly J. Sullivan, 2019, Human Mutation.

Effect of H. pylori on the Expression of TRAIL, FasL and their Receptor Subtypes in Human Gastric Epithelial Cells and their Role in Apoptosis

M. Manns, S. Kubicka, P. Flemming, 2004, Helicobacter.

Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal

R. Ullmann, P. Wieacker, M. Volleth, 2010, Sexual Development.

New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)

K. McElreavey, P. Wieacker, J. Achermann, 2010, Sexual Development.

Array‐comparative genomic hybridization analysis in patients with Müllerian fusion anomalies

P. Hillemanns, P. Wieacker, C. Schippert, 2018, Clinical genetics.

REPRODUCTIVE ENDOCRINOLOGY AND INFERTILITY BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure

A. Röpke, P. Wieacker, G. Haeusler, 2008 .

BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure.

A. Röpke, P. Wieacker, G. Haeusler, 2008, American Journal of Obstetrics and Gynecology.

Mutations in WNT9B are associated with Mayer–Rokitansky–Küster–Hauser syndrome

P. Hillemanns, P. Wieacker, C. Schippert, 2016, Clinical genetics.

Copy Number Variants in Premature Ovarian Failure and Ovarian Dysgenesis

A. Röpke, P. Wieacker, S. Ledig, 2010, Sexual Development.

Sequence Variants in TBX6 Are Associated with Disorders of the Müllerian Ducts: An Update

P. Hillemanns, P. Wieacker, C. Schippert, 2019, Sexual Development.

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

P. Wieacker, K. Shirneshan, S. Schulz, 2008, Prenatal diagnosis.

Androgeninsensitivität

P. Wieacker, S. Ledig, 2011 .

Novel and Recurrent Mutations in Patients with Androgen Insensitivity Syndromes

P. Wieacker, J. Neulen, C. Brewer, 2005, Hormone Research in Paediatrics.

Role of the Receptor-Mediated Apoptosis in Helicobacter pylori in Gastric Epithelial Cells

M. Manns, W. Beil, S. Wagner, 2005, Digestion.

Search for altered imprinting marks in Mayer–Rokitansky–Küster–Hauser patients

T. Eggermann, P. Wieacker, I. Kurth, 2018, Molecular genetics & genomic medicine.

Prevalence of Pathogenic Germline Variants in Women with Non-Familial Unilateral Triple-Negative Breast Cancer

T. Fehm, M. Golatta, C. Engel, 2023, Breast Care.

DMRT1 mutations are rarely associated with male infertility.

P. Wieacker, S. Kliesch, F. Tüttelmann, 2014, Fertility and sterility.

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

P. Wieacker, L. Wünsch, O. Hiort, 2012, European journal of endocrinology.