Elbracht M - Search Results

1

Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition.

Quade A, Thiel A, Kurth I, Holtgrewe M, Elbracht M, Beule D, Eggermann K, Scholl UI, Häusler M. Quade A, et al. Among authors: elbracht m. Eur J Paediatr Neurol. 2020 Mar;25:181-186. doi: 10.1016/j.ejpn.2019.11.002. Epub 2019 Nov 20. Eur J Paediatr Neurol. 2020. PMID: 31810576

2

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

3

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

4

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K. Rudnik-Schöneborn S, et al. Among authors: elbracht m. Clin Genet. 2016 Jan;89(1):34-43. doi: 10.1111/cge.12594. Epub 2015 Apr 29. Clin Genet. 2016. PMID: 25850958

5

NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.

Sachwitz J, Meyer R, Fekete G, Spranger S, Matulevičienė A, Kučinskas V, Bach A, Luczay A, Brüchle NO, Eggermann K, Zerres K, Elbracht M, Eggermann T. Sachwitz J, et al. Among authors: elbracht m. Clin Genet. 2017 Jan;91(1):73-78. doi: 10.1111/cge.12803. Epub 2016 Jun 30. Clin Genet. 2017. PMID: 27172843

6

Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.

Elbracht M, Mull M, Wagner N, Kuhl C, Abicht A, Kurth I, Tenbrock K, Häusler M. Elbracht M, et al. Neuropediatrics. 2017 Apr;48(2):111-114. doi: 10.1055/s-0036-1597611. Epub 2016 Dec 26. Neuropediatrics. 2017. PMID: 28024309

7

[Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics].

Elbracht M, Meyer R, Eggermann T, Kurth I. Elbracht M, et al. Internist (Berl). 2018 Aug;59(8):756-765. doi: 10.1007/s00108-018-0457-7. Internist (Berl). 2018. PMID: 29946883 Review. German.

8

Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients.

Eggermann T, Ledig S, Begemann M, Elbracht M, Kurth I, Wieacker P. Eggermann T, et al. Among authors: elbracht m. Mol Genet Genomic Med. 2018 Nov;6(6):1225-1228. doi: 10.1002/mgg3.426. Epub 2018 Aug 11. Mol Genet Genomic Med. 2018. PMID: 30099855 Free PMC article.

9

Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers.

Soellner L, Kraft F, Sauer S, Begemann M, Kurth I, Elbracht M, Eggermann T. Soellner L, et al. Among authors: elbracht m. Eur J Hum Genet. 2019 Jan;27(1):42-48. doi: 10.1038/s41431-018-0269-1. Epub 2018 Sep 14. Eur J Hum Genet. 2019. PMID: 30218098 Free PMC article.

10

Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.

Elbracht M, Kraft F, Begemann M, Holschbach P, Mull M, Kabat IM, Müller B, Häusler M, Kurth I, Hehr U. Elbracht M, et al. Mol Genet Genomic Med. 2018 Nov;6(6):1255-1260. doi: 10.1002/mgg3.490. Epub 2018 Nov 4. Mol Genet Genomic Med. 2018. PMID: 30393983 Free PMC article.

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