Klopocki E - Search Results

1

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.

Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T. Vona B, et al. Among authors: klopocki e. Clin Genet. 2015;87(1):49-55. doi: 10.1111/cge.12332. Epub 2014 Jan 21. Clin Genet. 2015. PMID: 26011646 Free PMC article.

2

Novel mutations of the PRKAR1A gene in patients with acrodysostosis.

Muhn F, Klopocki E, Graul-Neumann L, Uhrig S, Colley A, Castori M, Lankes E, Henn W, Gruber-Sedlmayr U, Seifert W, Horn D. Muhn F, et al. Among authors: klopocki e. Clin Genet. 2013 Dec;84(6):531-8. doi: 10.1111/cge.12106. Epub 2013 Feb 21. Clin Genet. 2013. PMID: 23425300

3

De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation.

Dutrannoy V, Klopocki E, Wei R, Bommer C, Mundlos S, Graul-Neumann LM, Trimborn M. Dutrannoy V, et al. Among authors: klopocki e. Eur J Med Genet. 2009 Nov-Dec;52(6):450-3. doi: 10.1016/j.ejmg.2009.06.004. Epub 2009 Jul 1. Eur J Med Genet. 2009. PMID: 19576303

4

Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: an array CGH analysis and review.

Akalin I, Bozdag S, Spielmann M, Basaran SY, Nanda I, Klopocki E. Akalin I, et al. Among authors: klopocki e. Am J Med Genet A. 2014 Feb;164A(2):490-4. doi: 10.1002/ajmg.a.36278. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311106 Review.

5

Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia.

Ott CE, Hein H, Lohan S, Hoogeboom J, Foulds N, Grünhagen J, Stricker S, Villavicencio-Lorini P, Klopocki E, Mundlos S. Ott CE, et al. Among authors: klopocki e. J Med Genet. 2012 Jul;49(7):437-41. doi: 10.1136/jmedgenet-2012-100825. Epub 2012 Jun 20. J Med Genet. 2012. PMID: 22717651

6

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

Klopocki E, Ott CE, Benatar N, Ullmann R, Mundlos S, Lehmann K. Klopocki E, et al. J Med Genet. 2008 Jun;45(6):370-5. doi: 10.1136/jmg.2007.055699. Epub 2008 Jan 4. J Med Genet. 2008. PMID: 18178630

7

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.

Flöttmann R, Wagner J, Kobus K, Curry CJ, Savarirayan R, Nishimura G, Yasui N, Spranger J, Van Esch H, Lyons MJ, DuPont BR, Dwivedi A, Klopocki E, Horn D, Mundlos S, Spielmann M. Flöttmann R, et al. Among authors: klopocki e. J Med Genet. 2015 Jul;52(7):476-83. doi: 10.1136/jmedgenet-2015-103108. Epub 2015 Jun 1. J Med Genet. 2015. PMID: 26032025

8

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

Lohan S, Spielmann M, Doelken SC, Flöttmann R, Muhammad F, Baig SM, Wajid M, Hülsemann W, Habenicht R, Kjaer KW, Patil SJ, Girisha KM, Abarca-Barriga HH, Mundlos S, Klopocki E. Lohan S, et al. Among authors: klopocki e. Clin Genet. 2014 Oct;86(4):318-25. doi: 10.1111/cge.12352. Epub 2014 Feb 17. Clin Genet. 2014. PMID: 24456159

9

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: klopocki e. Clin Genet. 2020 Oct;98(4):418-419. doi: 10.1111/cge.13820. Epub 2020 Aug 9. Clin Genet. 2020. PMID: 33294970

10

Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.

Bartsch O, Gebauer K, Lechno S, van Esch H, Froyen G, Bonin M, Seidel J, Thamm-Mücke B, Horn D, Klopocki E, Hertzberg C, Zechner U, Haaf T. Bartsch O, et al. Among authors: klopocki e. Am J Med Genet A. 2010 Feb;152A(2):305-12. doi: 10.1002/ajmg.a.33198. Am J Med Genet A. 2010. PMID: 20082459

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