Kunstmann E - Search Results

1

A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.

Hoefele J, Gabert M, Heinrich U, Benz K, Rompel O, Rost I, Klein HG, Kunstmann E. Hoefele J, et al. Among authors: kunstmann e. Eur J Med Genet. 2012 Mar;55(3):211-5. doi: 10.1016/j.ejmg.2012.01.011. Epub 2012 Jan 31. Eur J Med Genet. 2012. PMID: 22361651

2

Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.

Eggermann T, Kraft F, Lausberg E, Ergezinger K, Kunstmann E. Eggermann T, et al. Among authors: kunstmann e. J Med Genet. 2021 Mar;58(3):173-176. doi: 10.1136/jmedgenet-2020-106868. Epub 2020 May 23. J Med Genet. 2021. PMID: 32447323

3

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5.

Eggermann T, Kraft F, Kloth K, Klopocki E, Hüning I, Hempel M, Kunstmann E. Eggermann T, et al. Among authors: kunstmann e. Clin Genet. 2020 Oct;98(4):418-419. doi: 10.1111/cge.13820. Epub 2020 Aug 9. Clin Genet. 2020. PMID: 33294970

4

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

Rost S, Bach E, Neuner C, Nanda I, Dysek S, Bittner RE, Keller A, Bartsch O, Mlynski R, Haaf T, Müller CR, Kunstmann E. Rost S, et al. Among authors: kunstmann e. Eur J Hum Genet. 2014 Feb;22(2):208-15. doi: 10.1038/ejhg.2013.108. Epub 2013 May 29. Eur J Hum Genet. 2014. PMID: 23714752 Free PMC article.

5

Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.

Heinrich T, Nanda I, Rehn M, Zollner U, Ernestus K, Wirth C, Schlüter G, Schmid M, Kunstmann E. Heinrich T, et al. Among authors: kunstmann e. Cytogenet Genome Res. 2015;145(1):25-8. doi: 10.1159/000381169. Epub 2015 Mar 25. Cytogenet Genome Res. 2015. PMID: 25823796

6

Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993-2004).

Bernhardt C, Schwan AM, Kraus P, Epplen JT, Kunstmann E. Bernhardt C, et al. Among authors: kunstmann e. Eur J Hum Genet. 2009 Mar;17(3):295-300. doi: 10.1038/ejhg.2008.164. Epub 2008 Sep 10. Eur J Hum Genet. 2009. PMID: 18781186 Free PMC article.

7

Genetic counseling for the public?

Kunstmann E, Epplen JT. Kunstmann E, et al. Community Genet. 2006;9(1):62-6. doi: 10.1159/000090695. Community Genet. 2006. PMID: 16490961 Review.

8

HNPCC: six new pathogenic mutations.

Kunstmann E, Vieland J, Brasch FE, Hahn SA, Epplen JT, Schulmann K, Schmiegel W. Kunstmann E, et al. BMC Med Genet. 2004 Jun 24;5:16. doi: 10.1186/1471-2350-5-16. BMC Med Genet. 2004. PMID: 15217520 Free PMC article.

9

Rare copy number variants are a common cause of short stature.

Zahnleiter D, Uebe S, Ekici AB, Hoyer J, Wiesener A, Wieczorek D, Kunstmann E, Reis A, Doerr HG, Rauch A, Thiel CT. Zahnleiter D, et al. Among authors: kunstmann e. PLoS Genet. 2013;9(3):e1003365. doi: 10.1371/journal.pgen.1003365. Epub 2013 Mar 14. PLoS Genet. 2013. PMID: 23516380 Free PMC article.

10

New genomic region for Wegener's granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes.

Jagiello P, Gencik M, Arning L, Wieczorek S, Kunstmann E, Csernok E, Gross WL, Epplen JT. Jagiello P, et al. Among authors: kunstmann e. Hum Genet. 2004 Apr;114(5):468-77. doi: 10.1007/s00439-004-1092-z. Epub 2004 Feb 14. Hum Genet. 2004. PMID: 14968360

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