Elbracht M - Search Results

1

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.

Meyer R, Soellner L, Begemann M, Dicks S, Fekete G, Rahner N, Zerres K, Elbracht M, Eggermann T. Meyer R, et al. Among authors: elbracht m. J Pediatr. 2017 Aug;187:206-212.e1. doi: 10.1016/j.jpeds.2017.04.018. Epub 2017 May 19. J Pediatr. 2017. PMID: 28529015

2

Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.

Eggermann T, Elbracht M, Haverkamp F, Schmidt C, Zerres K. Eggermann T, et al. Among authors: elbracht m. Clin Genet. 2007 Jun;71(6):597-8. doi: 10.1111/j.1399-0004.2007.00797.x. Clin Genet. 2007. PMID: 17539912 No abstract available.

3

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.

Elbracht M, Senderek J, Eggermann T, Thürmer C, Park J, Westhofen M, Zerres K. Elbracht M, et al. J Med Genet. 2007 Jun;44(6):e81. doi: 10.1136/jmg.2007.049122. J Med Genet. 2007. PMID: 17551081 Free PMC article.

4

A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches.

Eggermann T, Eggermann K, Elbracht M, Zerres K, Rudnik-Schöneborn S. Eggermann T, et al. Among authors: elbracht m. Neuromuscul Disord. 2008 Feb;18(2):146-9. doi: 10.1016/j.nmd.2007.10.003. Epub 2007 Dec 21. Neuromuscul Disord. 2008. PMID: 18155522

5

A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant.

Roos A, Elbracht M, Baudis M, Senderek J, Schönherr N, Eggermann T, Schüler HM. Roos A, et al. Among authors: elbracht m. Am J Med Genet A. 2008 Sep 15;146A(18):2417-20. doi: 10.1002/ajmg.a.32465. Am J Med Genet A. 2008. PMID: 18698619

6

Pure distal trisomy 2q: a rare chromosomal abnormality with recognizable phenotype.

Elbracht M, Roos A, Schönherr N, Busse S, Damen R, Zerres K, Rudnik-Schöneborn S, Schüler HM. Elbracht M, et al. Am J Med Genet A. 2009 Nov;149A(11):2547-50. doi: 10.1002/ajmg.a.33086. Am J Med Genet A. 2009. PMID: 19876899

7

Brugada-like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients.

Rudnik-Schöneborn S, Schaupp M, Lindner A, Kress W, Schulze-Bahr E, Zumhagen S, Elbracht M, Zerres K. Rudnik-Schöneborn S, et al. Among authors: elbracht m. Eur J Neurol. 2011 Jan;18(1):191-4. doi: 10.1111/j.1468-1331.2010.03077.x. Eur J Neurol. 2011. PMID: 20491895

8

Epigenetic and genetic diagnosis of Silver-Russell syndrome.

Eggermann T, Spengler S, Gogiel M, Begemann M, Elbracht M. Eggermann T, et al. Among authors: elbracht m. Expert Rev Mol Diagn. 2012 Jun;12(5):459-71. doi: 10.1586/erm.12.43. Expert Rev Mol Diagn. 2012. PMID: 22702363 Review.

9

Congenital imprinting disorders: a novel mechanism linking seemingly unrelated disorders.

Eggermann T, Elbracht M, Schröder C, Reutter H, Soellner L, Spengler S, Begemann M. Eggermann T, et al. Among authors: elbracht m. J Pediatr. 2013 Oct;163(4):1202-7. doi: 10.1016/j.jpeds.2013.05.017. Epub 2013 Jul 1. J Pediatr. 2013. PMID: 23809048 No abstract available.

10

Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: characterization and evaluation of the aberrations.

Schwanitz G, Hagh JK, Rad IA, Omrani MD, Gamerdinger U, Schubert R, Elbracht M, Eggermann T, Eggermann K, Spengler S, Schüler H, Gogiel M. Schwanitz G, et al. Among authors: elbracht m. Am J Med Genet A. 2014 Mar;164A(3):736-40. doi: 10.1002/ajmg.a.36319. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357605

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