Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Aylar Tafazzoli"'
Autor:
Silke Redler, F. Buket Basmanav, Bettina Blaumeiser, Natalie Garcia Bartels, Gerhard Lutz, Aylar Tafazzoli, Roland Kruse, Hans Wolff, Markus Böhm, Ulrike Blume-Peytavi, Tim Becker, Markus M. Nöthen, Regina C. Betz
Publikováno v:
Acta Dermato-Venereologica, Vol 97, Iss 7, Pp 862-863 (2017)
Externí odkaz:
https://doaj.org/article/5ac104e84fc544e79e632cc047ebea62
Autor:
F. U. Basmanav, David J. P. Ferguson, Guy Serre, Aline Büchner, Susannah Mary Creighton George, Damian J. Ralser, H. Wiegmann, Vinzenz Oji, Sabrina Wolf, F. Valentin, Ulrike Blume-Peytavi, Eli Sprecher, Anette Bygum, Laura Cau, Henning Hamm, Peter Nuernberg, Marie-Claire Méchin, Aylar Tafazzoli, Regina C. Betz, Maria Teresa Romano, Nicola Wagner, Arzu Kiliç, N. Garcia Bartels, Lisa Weibel, Michel Simon, Anne Huchenq, Paul Farrant, Janine Altmueller, Ramon Grimalt, Holger Thiele
Publikováno v:
Eur J Hum Genet
Autor:
Roland Kruse, Silke Redler, Markus Böhm, Bettina Blaumeiser, Lynn Petukhova, Ulrike Blume-Peytavi, Markus M. Nöthen, Angela M. Christiano, Natalie Garcia Bartels, Hans Wolff, Andreas J. Forstner, Andrea Hofmann, David Broadley, Gerhard Lutz, Hermona Soreq, Alfredo De Rossi, Kathrin A. Giehl, Natalia V. Botchkareva, Aylar Tafazzoli, Regina C. Betz, Marta Bertolini
Publikováno v:
The journal of investigative dermatology
Alopecia areata (AA) is one of the most common forms of human hair loss. Although genetic studies have implicated autoimmune processes in AA etiology, understanding of the etiopathogenesis is incomplete. Recent research has implicated microRNAs, a cl
Autor:
Michélle Busch, Regina C. Betz, F. Buket Basmanav, Aylar Tafazzoli, Jorge Frank, Peter Nürnberg, Sarah Delker, Janine Altmüller, Sabrina Wolf, Benjamin Odermatt, Susanne Pulimood, Didier Lacombe, Sumita Danda, Holger Thiele, Uwe Hillen, Damian J. Ralser, Jörg Wenzel, Jade Wititsuwannakul
Publikováno v:
Journal of Clinical Investigation. 127:1485-1490
Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 hetero
Autor:
A. Humbatova, P Kokordelis, N. Nouri, Aylar Tafazzoli, Maria Teresa Romano, Sabrina Wolf, Mansour Salehi, Jorge Frank, N. Dilaver, M. Behnam, Regina C. Betz, Reza Maroofian
Publikováno v:
British Journal of Dermatology. 178:e265-e267
Autor:
Holger Thiele, Elke Holinski-Feder, Michael Kloth, Markus M. Nöthen, Gabriela Möslein, Richard P. Lifton, Reinhard Büttner, Glen Kristiansen, Bixiao Zhao, Jonathan Marquez, Inga Hinrichsen, Janine Altmüller, Andreas Laner, Sukanya Horpaopan, Jutta Kirfel, Angela Brieger, Aylar Tafazzoli, Stefanie Holzapfel, Regina C. Betz, Nicolaus Friedrichs, Ronja Adam, Siegfried Uhlhaas, Sophia Peters, Isabel Spier, Giancarlo Marra, Dietlinde Stienen, Katrin Kayser, Stefan Aretz
Publikováno v:
The American Journal of Human Genetics. 99(2):337-351
In ∼30% of families affected by colorectal adenomatous polyposis, no germline mutations have been identified in the previously implicated genes APC, MUTYH, POLE, POLD1, and NTHL1, although a hereditary etiology is likely. To uncover further genes w
Autor:
Jorge Frank, Jürgen Ellwanger, Alessandra Baumer, Peter Nürnberg, P Kokordelis, Alexander Rupp, Sabrina Wolf, Maria Teresa Romano, Aylar Tafazzoli, Dieter Metze, Reto Gambon, Sugirthan Sivalingam, Marta Bertolini, Ralf Paus, Stefan Holdenrieder, Janine Altmüller, Dieter Lütjohann, Regina C. Betz, Holger Thiele, Maximilian Mattern, Nicolai Kohlschmidt, Matthias Geyer
Publikováno v:
Romano, M-T, Tafazzoli, A, Mattern, M, Sivalingam, S, Wolf, S, Rupp, A, Thiele, H, Altmüller, J, Nürnberg, P, Ellwanger, J, Gambon, R, Baumer, A, Kohlschmidt, N, Metze, D, Holdenrieder, S, Paus, R, Lütjohann, D, Frank, J, Geyer, M, Bertolini, M, Kokordelis, P & Betz, R C 2018, ' Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex ', American Journal of Human Genetics, vol. 103, no. 5, pp. 777-785 . https://doi.org/10.1016/j.ajhg.2018.09.011
Hypotrichosis simplex (HS) is a rare form of hereditary alopecia characterized by childhood onset of diffuse and progressive scalp and body hair loss. Although research has identified a number of causal genes, genetic etiology in about 50% of HS case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dfe08d17f75ece1351c9c37bcce8672
Autor:
F. Buket Basmanav, Roland Kruse, Markus M. Nöthen, Gerhard Lutz, Silke Redler, Natalie Garcia Bartels, Hans Wolff, Bettina Blaumeiser, Ulrike Blume-Peytavi, Markus Böhm, Tim Becker, Regina C. Betz, Aylar Tafazzoli
Publikováno v:
Acta Dermato-Venereologica, Vol 97, Iss 7, Pp 862-863 (2017)
Acta dermato-venereologica
Acta dermato-venereologica 97(7), 862-863 (2017). doi:10.2340/00015555-2658
Acta dermato-venereologica
Acta dermato-venereologica 97(7), 862-863 (2017). doi:10.2340/00015555-2658