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Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in

Autor: K, Eggermann, R, Meyer, M, Begemann, D, Dey, E, Bültmann, I, Kurth, G C, Korenke, C, Knopp

Publikováno v: Genes. 13(12)

Heterozygous gain-of-function variants inWhole-exome sequencing (WES) from DNA extracted from peripheral blood was performed in a 10-year-old female presenting with demyelinating neuropathy, her similarly affected mother and the unaffected maternal g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::15a1f86a1a560b8587926e62cd946d86
https://pubmed.ncbi.nlm.nih.gov/36553623

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Infektiologische Präventivmaßnahmen bei Praktikantinnen und Praktikanten im Gesundheitsdienst und der Wohlfahrtspflege

Autor: A. Iseke, Ulrich Heininger, A. Müller, H. Grundhewer, G. C. Korenke, Hans-Iko Huppertz, Markus Knuf, U. von Both

Publikováno v: Monatsschrift Kinderheilkunde. 169:1167-1170

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::de08d72b3596aa033adeb4783e22052b
https://doi.org/10.1007/s00112-021-01210-z

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Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy

Autor: K. Eggermann, R. Meyer, M. Begemann, D. Dey, E. Bültmann, I. Kurth, G. C. Korenke, C. Knopp

Publikováno v: Genes 13(12), 2356 (2022). doi:10.3390/genes13122356 special issue: "Special Issue "Identification of Genes in Rare Syndromes" / Special Issue Editor Dr. Dagmar Wieczorek, Guest Editor"

Genes 13(12), 2356 (2022). doi:10.3390/genes13122356 special issue: "Special Issue "Identification of Genes in Rare Syndromes" / Special Issue Editor Dr. Dagmar Wieczorek, Guest Editor"
Published by MDPI, Basel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5593510a2f378460f0cf7c5baf75696

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Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome

Autor: M Ahmad-Anwar, Judith Fischer, S Gläser, Andreas Zimmer, J Grothaus, Steffen Hörer, G C Korenke, J Vornweg, Marion Kuhn, Hagen Ott

Publikováno v: British Journal of Dermatology. 184:1190-1192

Recently, mutations in Adaptor Related Protein Complex 1 Subunit Beta 1 (AP1B1) have been identified as the cause of a new form of syndromic ichthyosis, which is characterized by neonatal onset of ichthyosis, erythroderma and deafness accompanied by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0866f5758e04909e414fd04bdbf17250
https://doi.org/10.1111/bjd.19815

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Säuglingsbotulismus – eine verkannte Rarität?

Autor: M. Baeck, M. Borchers, A. Schaper, G. C. Korenke, M. Ebbecke

Publikováno v: Monatsschrift Kinderheilkunde.

Sauglingsbotulismus ist eine neuroparalytische Erkrankung, die durch toxinbildende Clostridien verursacht wird. Das klinische Bild ist durch schlaffe Muskelparesen und Storungen des autonomen Nervensystems gekennzeichnet. Wahrend in Deutschland nur e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::825810b78f6d8f78144f2bae3c602c3e
https://doi.org/10.1007/s00112-019-00818-6

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Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants

Autor: G. C. Korenke, Kerstin Kutsche, Martina Baethmann, Tatjana Bierhals, Martin Staudt, Laura López Marín

Publikováno v: European Journal of Medical Genetics. 61:329-334

Congenital mirror movements (CMM) are involuntary movements of one side of the body that mirror intentional movements of the other side. Heterozygous missense, frameshift and nonsense variants and small intragenic deletions in DCC cause CMM, isolated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa1c5ce140efa293803a06783428b08d
https://doi.org/10.1016/j.ejmg.2018.01.010

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