Klopocki E - Search Results

1

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

Kantaputra PN, Klopocki E, Hennig BP, Praphanphoj V, Le Caignec C, Isidor B, Kwee ML, Shears DJ, Mundlos S. Kantaputra PN, et al. Among authors: klopocki e. Eur J Hum Genet. 2010 Dec;18(12):1310-4. doi: 10.1038/ejhg.2010.116. Epub 2010 Jul 21. Eur J Hum Genet. 2010. PMID: 20648051 Free PMC article.

2

Copy-number variations, noncoding sequences, and human phenotypes.

Klopocki E, Mundlos S. Klopocki E, et al. Annu Rev Genomics Hum Genet. 2011;12:53-72. doi: 10.1146/annurev-genom-082410-101404. Annu Rev Genomics Hum Genet. 2011. PMID: 21756107 Review.

3

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

4

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.

Klopocki E, Neumann LM, Tönnies H, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Eur J Hum Genet. 2006 Dec;14(12):1274-9. doi: 10.1038/sj.ejhg.5201696. Epub 2006 Aug 9. Eur J Hum Genet. 2006. PMID: 16896345

5

A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures.

Busche A, Klopocki E, Ullmann R, Mundlos S, Horn D. Busche A, et al. Among authors: klopocki e. Eur J Med Genet. 2008 Nov-Dec;51(6):615-21. doi: 10.1016/j.ejmg.2008.06.006. Epub 2008 Jul 12. Eur J Med Genet. 2008. PMID: 18674647

6

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

Dathe K, Kjaer KW, Brehm A, Meinecke P, Nürnberg P, Neto JC, Brunoni D, Tommerup N, Ott CE, Klopocki E, Seemann P, Mundlos S. Dathe K, et al. Among authors: klopocki e. Am J Hum Genet. 2009 Apr;84(4):483-92. doi: 10.1016/j.ajhg.2009.03.001. Epub 2009 Mar 26. Am J Hum Genet. 2009. PMID: 19327734 Free PMC article.

7

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

8

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.

Spielmann M, Brancati F, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone AM, Ferrari P, Landi A, Wittler L, Timmermann B, Chan D, Mennen U, Klopocki E, Mundlos S. Spielmann M, et al. Among authors: klopocki e. Am J Hum Genet. 2012 Oct 5;91(4):629-35. doi: 10.1016/j.ajhg.2012.08.014. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022097 Free PMC article.

9

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.

Klopocki E, Lohan S, Brancati F, Koll R, Brehm A, Seemann P, Dathe K, Stricker S, Hecht J, Bosse K, Betz RC, Garaci FG, Dallapiccola B, Jain M, Muenke M, Ng VC, Chan W, Chan D, Mundlos S. Klopocki E, et al. Am J Hum Genet. 2011 Jan 7;88(1):70-5. doi: 10.1016/j.ajhg.2010.11.006. Epub 2010 Dec 17. Am J Hum Genet. 2011. PMID: 21167467 Free PMC article.

10

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

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