Klopocki E - Search Results

1

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.

2

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Am J Med Genet A. 2006 Apr 15;140(8):873-7. doi: 10.1002/ajmg.a.31163. Am J Med Genet A. 2006. PMID: 16528753

3

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

4

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.

Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S. Klopocki E, et al. Am J Hum Genet. 2007 Feb;80(2):232-40. doi: 10.1086/510919. Epub 2006 Dec 21. Am J Hum Genet. 2007. PMID: 17236129 Free PMC article.

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

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

7

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

8

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

9

Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young.

Raile K, Klopocki E, Holder M, Wessel T, Galler A, Deiss D, Müller D, Riebel T, Horn D, Maringa M, Weber J, Ullmann R, Grüters A. Raile K, et al. Among authors: klopocki e. J Clin Endocrinol Metab. 2009 Jul;94(7):2658-64. doi: 10.1210/jc.2008-2189. Epub 2009 May 5. J Clin Endocrinol Metab. 2009. PMID: 19417042

10

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

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