Zobrazeno 1 - 10
of 144
pro vyhledávání: '"M Gencik"'
Publikováno v:
Balkan Journal of Medical Genetics, Vol 21, Iss 2, Pp 39-43 (2018)
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics : BJMG
Myotonic dystrophy type 2 (MD2) is a multisystem disease, predominantly affecting the proximal limb muscles, eyes, endocrine organs, heart and intestines. Longterm asymptomatic creatine kinase (hyper-CKemia) of more than 20 years duration, in associa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f69f844cc7aa82c825dae4d07409ff63
https://doaj.org/article/74debaea8338484bacf44e95175a640e
https://doaj.org/article/74debaea8338484bacf44e95175a640e
Autor:
Fritz Zimprich, Hakan Cetin, M. Gencik, I. Rittelmeyer, A. Wöhrer, Gudrun Zulehner, Alexander Zimprich, Thomas Ströbel
Publikováno v:
Clinical Genetics. 90:366-371
Danon disease (DD) is a rare X-linked multisystem disorder caused by mutations of the LAMP2 gene and characterized by intellectual disability, skeletal myopathy and cardiomyopathy. The survival time is severely reduced. Contrasting with the usual dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d3bec11579a6b9bd4329066e334c25f
https://doi.org/10.1111/cge.12724
https://doi.org/10.1111/cge.12724
Autor:
Nicolai Kohlschmidt, Lude Franke, Cornelia Kraus, Christian P. Kratz, Silke Pauli, G Schlüter, Jürgen Kohlhase, F W Cremer, B Überlacker, A Bier, Mark H. Greene, B Auber, G Wildhardt, Claudia Nevinny-Stickel-Hinzpeter, B Kazmierczak, Kenneth H. Mayer, Christina Lissewski, Nadine Bachmann, Martin Zenker, C Daumer-Haas, B Eichhorn, M Gencik, U Finckh, C Blank, A Christmann, Hartmut Peters, Kerstin Kutsche, F Oeffner, Diana Mitter, Ina Schanze, Claudia Spix
Publikováno v:
British Journal of Cancer
Background: Somatic mutations affecting components of the Ras-MAPK pathway are a common feature of cancer, whereas germline Ras pathway mutations cause developmental disorders including Noonan, Costello, and cardio-facio-cutaneous syndromes. These
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a913d8e72ad0e95b4de72709e8abf453
http://europepmc.org/articles/PMC4402457
http://europepmc.org/articles/PMC4402457
Autor:
H, Cetin, A, Wöhrer, I, Rittelmeyer, M, Gencik, G, Zulehner, F, Zimprich, T, Ströbel, A, Zimprich
Publikováno v:
Clinical genetics. 90(4)
Danon disease (DD) is a rare X-linked multisystem disorder caused by mutations of the LAMP2 gene and characterized by intellectual disability, skeletal myopathy and cardiomyopathy. The survival time is severely reduced. Contrasting with the usual dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::96fe4c47af4c0793e2ec7ff46892a6e3
https://pubmed.ncbi.nlm.nih.gov/26748608
https://pubmed.ncbi.nlm.nih.gov/26748608
Publikováno v:
Balkan Journal of Medical Genetics; Dec2018, Vol. 21 Issue 2, p39-43, 5p
Autor:
Thomas Eggermann, Sabine Rudnik-Schöneborn, M. Gencik, Cordula Knopp, Sabrina Spengler, Klaus Zerres
Publikováno v:
American journal of medical genetics. Part A. (1)
Clinical overlap makes the diagnosis of overgrowth syndromes challenging. Clinical overlap exists between Simpson-Golabi-Behmel syndrome (SGBS) and Beckwith-Wiedemann syndrome (BWS) which share pre- and postnatal overgrowth, macroglossia, umbilical h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7674a27b54269f5c0accbd9b0fcda7b8
https://pubmed.ncbi.nlm.nih.gov/25339544
https://pubmed.ncbi.nlm.nih.gov/25339544
Publikováno v:
Neuropediatrics. 33:90-92
Chorea Huntington (CH) is a dominantly inherited, neurodegenerative disease usually with adult onset. The course of CH is characterized by movement disturbances, psychiatric symptoms and it may lead to dementia. Typically death occurs after 10 to 20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c533e5a4ce0aa92d07416e61ff28e7eb
https://doi.org/10.1055/s-2002-32367
https://doi.org/10.1055/s-2002-32367
Autor:
H. J. Buchwald, T. Langer, Klaus-Michael Debatin, Lisa Nonnenmacher, H. Gabriel, Holger Cario, Elisabeth Kohne, C. Meneksedag, M. Gencik, H. Blessing
Publikováno v:
Klinische Padiatrie. 223(6)
BACKGROUND The hereditary hyperferritinemia cataract syndrome (HHCS) is an autosomal dominant disorder characterized by high serum ferritin and early onset cataract. Mutations in the iron responsive element (IRE) within the 5' untranslated region of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::580364f606c1384e12f33fb062ee297f
https://pubmed.ncbi.nlm.nih.gov/22020773
https://pubmed.ncbi.nlm.nih.gov/22020773
Publikováno v:
Neuropediatrics. 42
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fda797d3254023687a91bed0b7355618
https://doi.org/10.1055/s-0031-1273989
https://doi.org/10.1055/s-0031-1273989
Publikováno v:
Annals of Oncology. 4:825-830
BACKGROUND Carcinogenesis, the formation of solid tumors, is now widely accepted to represent a multistep process. Several genetic events, activation of proto-oncogenes and inactivation of tumor suppressor genes, are involved. DESIGN Review of the li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e4a8a93148626f413c49314e0e5fb24
https://doi.org/10.1093/oxfordjournals.annonc.a058387
https://doi.org/10.1093/oxfordjournals.annonc.a058387