Elbracht M - Search Results

1

Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I. Lischka A, et al. Among authors: elbracht m. Nat Rev Dis Primers. 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. Nat Rev Dis Primers. 2022. PMID: 35710757 Review.

2

Combination of nivolumab with standard induction chemotherapy in children and adults with EBV-positive nasopharyngeal carcinoma : Protocol of a prospective multicenter phase 2 trial.

Römer T, Vokuhl C, Staatz G, Mottaghy FM, Christiansen H, Eble MJ, Timmermann B, Klussmann JP, Elbracht M, Calaminus G, Zimmermann M, Brümmendorf TH, Feuchtinger T, Kerp H, Kontny U. Römer T, et al. Among authors: elbracht m. HNO. 2024 Jun;72(6):423-439. doi: 10.1007/s00106-023-01404-9. Epub 2024 Jan 12. HNO. 2024. PMID: 38214716 Free PMC article.

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

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

7

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

8

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

9

[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.

10

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.

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