Elbracht M - Search Results

1

Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.

Tümer Z, López-Hernández JA, Netchine I, Elbracht M, Grønskov K, Gede LB, Sachwitz J, den Dunnen JT, Eggermann T. Tümer Z, et al. Among authors: elbracht m. Hum Mutat. 2018 Mar;39(3):345-364. doi: 10.1002/humu.23382. Epub 2018 Jan 11. Hum Mutat. 2018. PMID: 29250858

2

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.

3

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

4

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

5

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.

6

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.

7

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

8

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.

Beygo J, Elbracht M, de Groot K, Begemann M, Kanber D, Platzer K, Gillessen-Kaesbach G, Vierzig A, Green A, Heller R, Buiting K, Eggermann T. Beygo J, et al. Among authors: elbracht m. Eur J Hum Genet. 2015 Feb;23(2):180-8. doi: 10.1038/ejhg.2014.72. Epub 2014 May 7. Eur J Hum Genet. 2015. PMID: 24801763 Free PMC article.

9

A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype.

Kordaß U, Schröder C, Elbracht M, Soellner L, Eggermann T. Kordaß U, et al. Among authors: elbracht m. Am J Med Genet A. 2015 May;167A(5):1121-4. doi: 10.1002/ajmg.a.36972. Epub 2015 Mar 28. Am J Med Genet A. 2015. PMID: 25820550

10

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.

Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, Elbracht M, Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK. Mulchandani S, et al. Among authors: elbracht m. Genet Med. 2016 Apr;18(4):309-15. doi: 10.1038/gim.2015.103. Epub 2015 Aug 6. Genet Med. 2016. PMID: 26248010 Free article.

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