Klopocki E - Search Results

1

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

2

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.

Busche A, Graul-Neumann LM, Zweier C, Rauch A, Klopocki E, Horn D. Busche A, et al. Among authors: klopocki e. Eur J Med Genet. 2011 May-Jun;54(3):256-61. doi: 10.1016/j.ejmg.2011.02.002. Epub 2011 Feb 17. Eur J Med Genet. 2011. PMID: 21333765

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

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Graul-Neumann LM, Deichsel A, Wille U, Kakar N, Koll R, Bassir C, Ahmad J, Cormier-Daire V, Mundlos S, Kubisch C, Borck G, Klopocki E, Mueller TD, Doelken SC, Seemann P. Graul-Neumann LM, et al. Among authors: klopocki e. Eur J Hum Genet. 2014 Jun;22(6):726-33. doi: 10.1038/ejhg.2013.222. Epub 2013 Oct 16. Eur J Hum Genet. 2014. PMID: 24129431 Free PMC article.

5

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.

Graul-Neumann LM, Mensah MA, Klopocki E, Uebe S, Ekici AB, Thiel CT, Reis A, Zweier C. Graul-Neumann LM, et al. Among authors: klopocki e. Eur J Med Genet. 2018 Jul;61(7):363-368. doi: 10.1016/j.ejmg.2018.01.016. Epub 2018 Jan 31. Eur J Med Genet. 2018. PMID: 29407414

6

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Klopocki E, Graul-Neumann LM, Grieben U, Tönnies H, Ropers HH, Horn D, Mundlos S, Ullmann R. Klopocki E, et al. Eur J Pediatr. 2008 Aug;167(8):903-8. doi: 10.1007/s00431-007-0616-7. Epub 2007 Oct 12. Eur J Pediatr. 2008. PMID: 17932688 Free PMC article.

7

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

8

Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.

Spielmann M, Reichelt G, Hertzberg C, Trimborn M, Mundlos S, Horn D, Klopocki E. Spielmann M, et al. Among authors: klopocki e. Eur J Med Genet. 2011 Jul-Aug;54(4):e441-5. doi: 10.1016/j.ejmg.2011.04.004. Epub 2011 Apr 29. Eur J Med Genet. 2011. PMID: 21596161

9

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.

Villavicencio-Lorini P, Klopocki E, Trimborn M, Koll R, Mundlos S, Horn D. Villavicencio-Lorini P, et al. Among authors: klopocki e. Eur J Hum Genet. 2013 Jul;21(7):743-8. doi: 10.1038/ejhg.2012.240. Epub 2012 Nov 28. Eur J Hum Genet. 2013. PMID: 23188045 Free PMC article.

10

Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.

Doelken SC, Seeger K, Hundsdoerfer P, Weber-Ferro W, Klopocki E, Graul-Neumann L. Doelken SC, et al. Among authors: klopocki e. Am J Med Genet A. 2013 Jan;161A(1):218-24. doi: 10.1002/ajmg.a.35695. Epub 2012 Dec 14. Am J Med Genet A. 2013. PMID: 23239641

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