Elbracht M - Search Results

1

Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco.

Mattern L, Begemann M, Delbrück H, Holschbach P, Schröder S, Schacht SM, Kurth I, Elbracht M. Mattern L, et al. Among authors: elbracht m. Bone Rep. 2023 May 4;18:101683. doi: 10.1016/j.bonr.2023.101683. eCollection 2023 Jun. Bone Rep. 2023. PMID: 37214758 Free PMC article.

2

Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

Morin G, Bruechle NO, Singh AR, Knopp C, Jedraszak G, Elbracht M, Brémond-Gignac D, Hartmann K, Sevestre H, Deutz P, Hérent D, Nürnberg P, Roméo B, Konrad K, Mathieu-Dramard M, Oldenburg J, Bourges-Petit E, Shen Y, Zerres K, Ouadid-Ahidouch H, Rochette J. Morin G, et al. Among authors: elbracht m. Hum Mutat. 2014 Oct;35(10):1221-32. doi: 10.1002/humu.22621. Hum Mutat. 2014. PMID: 25044882

3

Chondrosarcoma of bone: an oncological and functional follow-up study.

Bruns J, Elbracht M, Niggemeyer O. Bruns J, et al. Among authors: elbracht m. Ann Oncol. 2001 Jun;12(6):859-64. doi: 10.1023/a:1011162118869. Ann Oncol. 2001. PMID: 11484965 Free article.

4

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.

5

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.

Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE. Senderek J, et al. Among authors: elbracht m. Am J Hum Genet. 2009 Apr;84(4):511-8. doi: 10.1016/j.ajhg.2009.03.006. Epub 2009 Apr 2. Am J Hum Genet. 2009. PMID: 19344878 Free PMC article.

6

Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.

Elbracht M, Senderek J, Schara U, Nolte K, Klopstock T, Roos A, Reimann J, Zerres K, Weis J, Rudnik-Schöneborn S. Elbracht M, et al. Clin Neuropathol. 2014 Sep-Oct;33(5):335-43. doi: 10.5414/NP300742. Clin Neuropathol. 2014. PMID: 24887401

7

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

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

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.

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