Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Tanja Velten"'
Autor:
Uta Matysiak, Angela Galeotti, Colin E. Willoughby, Dianora Araque, Tanja Velten, Michele Callea, Francisco Cammarata-Scalisi, Andrea Avendaño
Schmid-type metaphyseal chondrodysplasia (MIM 156500) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the COL10A1 gene (MIM 120110) encoding the α1(X) chains of type X collagen. We report an 8-year-old girl w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0322735dda0b90d1b5c7d92a10ab8c8
https://europepmc.org/articles/PMC6528095/
https://europepmc.org/articles/PMC6528095/
Autor:
Ekkehart Lausch, Bernhard Zabel, Tanja Velten, Sarah C. Grünert, Dieter Lütjohann, Karl Otfried Schwab, Anika Salfelder, Uta Matysiak-Scholze, Yong Li, Anna Köttgen, Pablo Villavicencio-Lorini
Publikováno v:
European Journal of Human Genetics. 24:1274-1279
Whole-exome sequencing allows for an unbiased and comprehensive mutation screening. Although successfully used to facilitate the diagnosis of single-gene disorders, the genetic cause(s) of a substantial proportion of presumed monogenic diseases remai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::889af73a72969dcf47bf2d2762f91c76
https://doi.org/10.1038/ejhg.2015.285
https://doi.org/10.1038/ejhg.2015.285
Autor:
Bernhard Zabel, Julia Hoefele, Emma Wakeling, Luisa Bonafé, Roberto Mendoza-Londono, Nithiwat Vatanavicharn, Sheela Nampoothiri, Imma Rost, Melanie Alcausin, Sophia Hollander, Bryan D. Hall, Elisabeth Mangold, J. Spranger, Ekkehart Lausch, Andrea Superti-Furga, Stephen Ts Lam, Kerstin Reicherter, Sheila Unger, David Sillence, Antonio Rossi, Kate Chandler, Bushra Afroze, Luis M. Franco, Tanja Velten, Stephen P. Robertson, Ivan F M Lo, Komudi Godbole, André Mégarbané, Antonio Aytes
Publikováno v:
American journal of medical genetics. Part A. (10)
We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin-6-sulfotransferase) in six subjects diagnosed with recessive Larsen syndrome or humero-spinal dysostosis [Hermanns et al. (2008); Am J Hum Genet 82:1368–1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f4c55d19c86a38f907c95f917acebff
https://pubmed.ncbi.nlm.nih.gov/20830804
https://pubmed.ncbi.nlm.nih.gov/20830804