Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Imma Rosas"'
Autor:
Meritxell Carrió, Helena Mazuelas, Yvonne Richaud-Patin, Bernat Gel, Ernest Terribas, Imma Rosas, Senda Jimenez-Delgado, Josep Biayna, Leen Vendredy, Ignacio Blanco, Elisabeth Castellanos, Conxi Lázaro, Ángel Raya, Eduard Serra
Publikováno v:
Stem Cell Reports, Vol 12, Iss 2, Pp 411-426 (2019)
Summary: Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disease caused by mutations in the NF1 tumor suppressor gene. Plexiform neurofibromas (PNFs) are benign Schwann cell (SC) tumors of the peripheral nerve sheath that develop thr
Externí odkaz:
https://doaj.org/article/88a77f9a7c3e4807b0539d76fcbde7b1
Autor:
Helena Mazuelas, Imma Rosas, Meritxell Carrió, Ernest Terribas, Angel Raya, Eduard Serra, Josep Biayna, Ignacio Blanco, Yvonne Richaud-Patin, Senda Jiménez-Delgado, Bernat Gel, Conxi Lázaro, Leen Vendredy, Elisabeth Castellanos
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Stem Cell Reports
Stem Cell Reports, Vol 12, Iss 2, Pp 411-426 (2019)
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Universidad de Barcelona
Stem Cell Reports
Stem Cell Reports, Vol 12, Iss 2, Pp 411-426 (2019)
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Summary Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disease caused by mutations in the NF1 tumor suppressor gene. Plexiform neurofibromas (PNFs) are benign Schwann cell (SC) tumors of the peripheral nerve sheath that develop thro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8acd1bc377c36981a7b04aa2bebe7987
http://hdl.handle.net/2445/171527
http://hdl.handle.net/2445/171527
Autor:
Francesc Roca-Ribas, Cristina Carrato, Isabel Bielsa, Eduard Serra, Ignacio Blanco, Pepe Prades, Ares Solanes, Conxi Lázaro, Imma Rosas, Elisabeth Castellanos, Cristina Hostalot
Publikováno v:
European Journal of Human Genetics. 21:769-773
Neurofibromatosis type 2 (NF2) is an autosomal-dominant disorder affecting about 1:33 000 newborns, mainly characterized by the development of tumors of the nervous system and ocular abnormalities. Around 85% of germline NF2 mutations are point mutat