Wieacker P - Search Results

1

New technologies for the identification of novel genetic markers of disorders of sex development (DSD).

Bashamboo A, Ledig S, Wieacker P, Achermann JC, McElreavey K. Bashamboo A, et al. Among authors: wieacker p. Sex Dev. 2010 Sep;4(4-5):213-24. doi: 10.1159/000314917. Epub 2010 Jul 3. Sex Dev. 2010. PMID: 20820110 Free PMC article. Review.

2

Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.

Jakubiczka S, Schröder C, Ullmann R, Volleth M, Ledig S, Gilberg E, Kroisel P, Wieacker P. Jakubiczka S, et al. Among authors: wieacker p. Sex Dev. 2010;4(3):143-9. doi: 10.1159/000302403. Epub 2010 May 4. Sex Dev. 2010. PMID: 20453475

3

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

Ledig S, Hiort O, Wünsch L, Wieacker P. Ledig S, et al. Among authors: wieacker p. Eur J Endocrinol. 2012 Jul;167(1):119-24. doi: 10.1530/EJE-12-0136. Epub 2012 May 9. Eur J Endocrinol. 2012. PMID: 22573722

4

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

Ledig S, Preisler-Adams S, Morlot S, Liehr T, Wieacker P. Ledig S, et al. Among authors: wieacker p. Sex Dev. 2015;9(2):86-90. doi: 10.1159/000373906. Epub 2015 Feb 11. Sex Dev. 2015. PMID: 25676666

5

Copy number variants in premature ovarian failure and ovarian dysgenesis.

Ledig S, Röpke A, Wieacker P. Ledig S, et al. Among authors: wieacker p. Sex Dev. 2010 Sep;4(4-5):225-32. doi: 10.1159/000314958. Epub 2010 Jul 3. Sex Dev. 2010. PMID: 20606390

6

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

Eggermann T, Ledig S, Begemann M, Elbracht M, Kurth I, Wieacker P. Eggermann T, et al. Among authors: wieacker p. Mol Genet Genomic Med. 2018 Nov;6(6):1225-1228. doi: 10.1002/mgg3.426. Epub 2018 Aug 11. Mol Genet Genomic Med. 2018. PMID: 30099855 Free PMC article.

7

Array-comparative genomic hybridization analysis in patients with Müllerian fusion anomalies.

Ledig S, Tewes AC, Hucke J, Römer T, Kapczuk K, Schippert C, Hillemanns P, Wieacker P. Ledig S, et al. Among authors: wieacker p. Clin Genet. 2018 Mar;93(3):640-646. doi: 10.1111/cge.13160. Epub 2018 Feb 5. Clin Genet. 2018. PMID: 29068465

8

Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome.

Waschk DE, Tewes AC, Römer T, Hucke J, Kapczuk K, Schippert C, Hillemanns P, Wieacker P, Ledig S. Waschk DE, et al. Among authors: wieacker p. Clin Genet. 2016 May;89(5):590-6. doi: 10.1111/cge.12701. Epub 2016 Jan 20. Clin Genet. 2016. PMID: 26610373

9

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

Andonova S, Robeva R, Vazharova R, Ledig S, Grozdanova L, Stefanova E, Bradinova I, Todorov T, Hadjidekov G, Sirakov M, Wieacker P, Kumanov P, Savov A. Andonova S, et al. Among authors: wieacker p. Sex Dev. 2017;11(1):21-28. doi: 10.1159/000454974. Epub 2017 Jan 21. Sex Dev. 2017. PMID: 28110336

10

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

Tewes AC, Hucke J, Römer T, Kapczuk K, Schippert C, Hillemanns P, Wieacker P, Ledig S. Tewes AC, et al. Among authors: wieacker p. Sex Dev. 2019;13(1):35-40. doi: 10.1159/000496819. Epub 2019 Feb 9. Sex Dev. 2019. PMID: 30739119

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