Elbracht M - Search Results

1

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

2

[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.

3

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.

4

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.

5

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.

6

DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.

Karsai G, Kraft F, Haag N, Korenke GC, Hänisch B, Othman A, Suriyanarayanan S, Steiner R, Knopp C, Mull M, Bergmann M, Schröder JM, Weis J, Elbracht M, Begemann M, Hornemann T, Kurth I. Karsai G, et al. Among authors: elbracht m. J Clin Invest. 2019 Mar 1;129(3):1229-1239. doi: 10.1172/JCI124159. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620338 Free PMC article.

7

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation.

Kraft F, Wesseler K, Begemann M, Kurth I, Elbracht M, Eggermann T. Kraft F, et al. Among authors: elbracht m. Clin Epigenetics. 2019 Feb 15;11(1):30. doi: 10.1186/s13148-019-0629-x. Clin Epigenetics. 2019. PMID: 30770769 Free PMC article.

8

PDE10A mutation in two sisters with a hyperkinetic movement disorder - Response to levodopa.

Knopp C, Häusler M, Müller B, Damen R, Stoppe A, Mull M, Elbracht M, Kurth I, Begemann M. Knopp C, et al. Among authors: elbracht m. Parkinsonism Relat Disord. 2019 Jun;63:240-242. doi: 10.1016/j.parkreldis.2019.02.007. Epub 2019 Feb 10. Parkinsonism Relat Disord. 2019. PMID: 30777652 No abstract available.

9

Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations.

Eggermann T, Begemann M, Kurth I, Elbracht M. Eggermann T, et al. Among authors: elbracht m. Eur J Med Genet. 2019 Jul;62(7):103671. doi: 10.1016/j.ejmg.2019.103671. Epub 2019 May 14. Eur J Med Genet. 2019. PMID: 31100449

10

Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.

Meyer R, Schacht S, Buschmann L, Begemann M, Kraft F, Haag N, Kochs A, Schulze A, Kurth I, Elbracht M. Meyer R, et al. Among authors: elbracht m. Bone. 2019 Oct;127:446-451. doi: 10.1016/j.bone.2019.07.016. Epub 2019 Jul 17. Bone. 2019. PMID: 31325655

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