Schmidtke J - Search Results

1

Genetic admixture history of Eastern Indonesia as revealed by Y-chromosome and mitochondrial DNA analysis.

Mona S, Grunz KE, Brauer S, Pakendorf B, Castrì L, Sudoyo H, Marzuki S, Barnes RH, Schmidtke J, Stoneking M, Kayser M. Mona S, et al. Among authors: schmidtke j. Mol Biol Evol. 2009 Aug;26(8):1865-77. doi: 10.1093/molbev/msp097. Epub 2009 May 4. Mol Biol Evol. 2009. PMID: 19414523

2

Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland.

Schubert S, Haas C, Bartsch C, Mirshekarnejad M, Kohrs S, Roettinger I, Grosshennig A, Stuhrmann M, Scholz C, Schmidtke J. Schubert S, et al. Among authors: schmidtke j. Mol Cell Probes. 2015 Feb;29(1):31-4. doi: 10.1016/j.mcp.2014.10.006. Epub 2014 Nov 4. Mol Cell Probes. 2015. PMID: 25449952

3

Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?

Javaher P, Stuhrmann M, Wilke C, Frenzel E, Manukjan G, Grosshenig A, Dechend F, Schwaab E, Schmidtke J, Schubert S. Javaher P, et al. Among authors: schmidtke j. Fertil Steril. 2012 Feb;97(2):402-6. doi: 10.1016/j.fertnstert.2011.11.002. Epub 2011 Dec 2. Fertil Steril. 2012. PMID: 22137496 Free article.

4

Characterization of the 10q26-orthologue in rhesus monkeys corroborates a functional connection between ARMS2 and HTRA1.

Pahl L, Spangenberg A, Schubert S, Schönmann U, Schmidtke J, Stuhrmann M. Pahl L, et al. Among authors: schmidtke j. Exp Eye Res. 2012 May;98:75-8. doi: 10.1016/j.exer.2012.03.007. Epub 2012 Mar 21. Exp Eye Res. 2012. PMID: 22465519

5

1,25-Dihydroxyvitamin D decreases HTRA1 promoter activity in the rhesus monkey--a plausible explanation for the influence of vitamin D on age-related macular degeneration?

Pahl L, Schubert S, Skawran B, Sandbothe M, Schmidtke J, Stuhrmann M. Pahl L, et al. Among authors: schmidtke j. Exp Eye Res. 2013 Nov;116:234-9. doi: 10.1016/j.exer.2013.09.012. Epub 2013 Sep 27. Exp Eye Res. 2013. PMID: 24076413

6

Transgenic Mouse Studies to Understand the Regulation, Expression and Function of the Testis-Specific Protein Y-Encoded (TSPY) Gene.

Schubert S, Schmidtke J. Schubert S, et al. Among authors: schmidtke j. Genes (Basel). 2010 Aug 18;1(2):244-62. doi: 10.3390/genes1020244. Genes (Basel). 2010. PMID: 24710044 Free PMC article.

7

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.

Wessels K, Bohnhorst B, Luhmer I, Morlot S, Bohring A, Jonasson J, Epplen JT, Gadzicki D, Glaser S, Göhring G, Mälzer M, Hein A, Arslan-Kirchner M, Stuhrmann M, Schmidtke J, Pabst B. Wessels K, et al. Among authors: schmidtke j. Eur J Med Genet. 2010 Sep-Oct;53(5):280-5. doi: 10.1016/j.ejmg.2010.07.002. Epub 2010 Jul 30. Eur J Med Genet. 2010. PMID: 20624498

8

NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?

Scholz C, Steinemann D, Mälzer M, Roy M, Arslan-Kirchner M, Illig T, Schmidtke J, Stuhrmann M. Scholz C, et al. Among authors: schmidtke j. Eur J Med Genet. 2016 Oct;59(10):493-8. doi: 10.1016/j.ejmg.2016.08.006. Epub 2016 Sep 2. Eur J Med Genet. 2016. PMID: 27596683

9

Characterization of a human TSPY promoter.

Skawran B, Schubert S, Dechend F, Vervoorts J, Nayernia K, Lüscher B, Schmidtke J. Skawran B, et al. Among authors: schmidtke j. Mol Cell Biochem. 2005 Aug;276(1-2):159-67. doi: 10.1007/s11010-005-3801-x. Mol Cell Biochem. 2005. PMID: 16132697

10

Genotype-based screening for hereditary haemochromatosis. I: Technical performance, costs and clinical relevance of a German pilot study.

Stuhrmann M, Strassburg C, Schmidtke J. Stuhrmann M, et al. Among authors: schmidtke j. Eur J Hum Genet. 2005 Jan;13(1):69-78. doi: 10.1038/sj.ejhg.5201287. Eur J Hum Genet. 2005. PMID: 15483651

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