Schmidtke J - Search Results

1

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders.

Becker F, van El CG, Ibarreta D, Zika E, Hogarth S, Borry P, Cambon-Thomsen A, Cassiman JJ, Evers-Kiebooms G, Hodgson S, Janssens AC, Kaariainen H, Krawczak M, Kristoffersson U, Lubinski J, Patch C, Penchaszadeh VB, Read A, Rogowski W, Sequeiros J, Tranebjaerg L, van Langen IM, Wallace H, Zimmern R, Schmidtke J, Cornel MC. Becker F, et al. Among authors: schmidtke j. Eur J Hum Genet. 2011 Apr;19 Suppl 1(Suppl 1):S6-44. doi: 10.1038/ejhg.2010.249. Eur J Hum Genet. 2011. PMID: 21412252 Free PMC article. Review. No abstract available.

2

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

3

Mapping of a macular drusen susceptibility locus in rhesus macaques to the homologue of human chromosome 6q14-15.

Singh KK, Ristau S, Dawson WW, Krawczak M, Schmidtke J. Singh KK, et al. Among authors: schmidtke j. Exp Eye Res. 2005 Oct;81(4):401-6. doi: 10.1016/j.exer.2005.02.011. Exp Eye Res. 2005. PMID: 16185951

4

Genetic influence on reproductive behavior in female rhesus macaques.

Trefilov A, Croucher PJ, Krawczak M, Schmidtke J. Trefilov A, et al. Among authors: schmidtke j. Twin Res Hum Genet. 2005 Dec;8(6):551-2. doi: 10.1375/183242705774860114. Twin Res Hum Genet. 2005. PMID: 16354496 No abstract available.

5

Sequence variations in the 5' upstream regions of the FBN1 gene associated with Marfan syndrome.

Singh KK, Shukla PC, Rommel K, Schmidtke J, Arslan-Kirchner M. Singh KK, et al. Among authors: schmidtke j. Eur J Hum Genet. 2006 Jul;14(7):876-9. doi: 10.1038/sj.ejhg.5201620. Epub 2006 Apr 12. Eur J Hum Genet. 2006. PMID: 16617303

6

Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality.

El-Harith el-HA, Kühnau W, Schmidtke J, Gadzicki D, Ahmed M, Krawczak M, Stuhrmann M. El-Harith el-HA, et al. Among authors: schmidtke j. Eur J Med Genet. 2006 Jul-Aug;49(4):323-30. doi: 10.1016/j.ejmg.2005.09.002. Epub 2005 Oct 25. Eur J Med Genet. 2006. PMID: 16829353

7

IMPG1 gene variation in rhesus macular drusen.

Singh KK, Dawson WW, Krawczak M, Schmidtke J. Singh KK, et al. Among authors: schmidtke j. Vet Ophthalmol. 2007 Sep-Oct;10(5):274-7. doi: 10.1111/j.1463-5224.2007.00549.x. Vet Ophthalmol. 2007. PMID: 17760704

8

What is ideal genetic counselling? A survey of current international guidelines.

Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Sequeiros J, Kääriäinen H. Rantanen E, et al. Among authors: schmidtke j. Eur J Hum Genet. 2008 Apr;16(4):445-52. doi: 10.1038/sj.ejhg.5201983. Epub 2008 Jan 16. Eur J Hum Genet. 2008. PMID: 18197196

9

EuroGentest: DNA-based testing for heritable disorders in Europe.

Javaher P, Kaariainen H, Kristoffersson U, Nippert I, Sequeiros J, Zimmern R, Schmidtke J. Javaher P, et al. Among authors: schmidtke j. Community Genet. 2008;11(2):75-120. doi: 10.1159/000111984. Epub 2008 Jan 17. Community Genet. 2008. PMID: 18204250 Review.

10

On the testing load incurred by cascade genetic carrier screening for Mendelian disorders: a brief report.

Krawczak M, Caliebe A, Croucher PJ, Schmidtke J. Krawczak M, et al. Among authors: schmidtke j. Genet Test. 2007 Winter;11(4):417-9. doi: 10.1089/gte.2007.0028. Genet Test. 2007. PMID: 18294059

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