Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Receptors, Fibroblast Growth Factor/genetics"'
Autor:
Loriot, Yohann, Necchi, Andrea, Park, Se Hoon, Garcia-Donas, Jesus, Huddart, Robert, Burgess, Earle, Fleming, Mark, Rezazadeh, Arash, Mellado, Begoña, Varlamov, Sergey, Joshi, Monika, Duran, Ignacio, Tagawa, Scott, Zakharia, Yousef, Zhong, Bob, Stuyckens, Kim, Santiago-Walker, Ademi, De Porre, Peter, O’Hagan, Anne, Avadhani, Anjali, Siefker-Radtke, Arlene, Houédé, Nadine
Publikováno v:
New England Journal of Medicine
New England Journal of Medicine, Massachusetts Medical Society, 2019, 381 (4), pp.338-348. ⟨10.1056/NEJMoa1817323⟩
New England Journal of Medicine, Massachusetts Medical Society, 2019, 381 (4), pp.338-348. ⟨10.1056/NEJMoa1817323⟩
Alterations in the gene encoding fibroblast growth factor receptor (In this open-label, phase 2 study, we enrolled patients who had locally advanced and unresectable or metastatic urothelial carcinoma with prespecifiedA total of 99 patients in the se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffcfc170e758d7ea02e09dd18fd05524
Autor:
Brito, Luciana Pinto
Introdução: Os mecanismos envolvidos na patogênese molecular dos tumores hipofisários corticotróficos são complexos, heterogêneos e permanecem na maioria dos casos desconhecidos. Alterações da expressão de componentes da via Ikaros (Ik), ta
Autor:
Luciana Pinto Brito
Publikováno v:
Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.
Introdução: Os mecanismos envolvidos na patogênese molecular dos tumores hipofisários corticotróficos são complexos, heterogêneos e permanecem na maioria dos casos desconhecidos. Alterações da expressão de componentes da via Ikaros (Ik), ta
Autor:
Alex J T Van Oostveldt, Indira B. Taylor, Thomy de Ravel, Andrew O.M. Wilkie, Jean-Pierre Fryns
Publikováno v:
European journal of human genetics : EJHG. 13(4)
We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A > G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d77ed93b8f20ddfc3708ea11042c1f4c
http://ora.ox.ac.uk/objects/uuid:cbbc86c2-8c26-42cc-a4bd-f0360ee3b837
http://ora.ox.ac.uk/objects/uuid:cbbc86c2-8c26-42cc-a4bd-f0360ee3b837
Autor:
P. A. Antinozzi, Claes B. Wollheim, M. Iezzi, Sten Theander, Haiyan Wang, Philippe A. Halban, Benoit R. Gauthier
Publikováno v:
Diabetologia, Vol. 48, No 4 (2005) pp. 720-731
AIMS/HYPOTHESIS: Mutations in genes encoding HNF-4alpha, HNF-1alpha and IPF-1/Pdx-1 are associated with, respectively, MODY subtypes-1, -3 and -4. Impaired glucose-stimulated insulin secretion is the common primary defect of these monogenic forms of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6bd1978dd017d84ef211fd5a0484893
https://pubmed.ncbi.nlm.nih.gov/15756539
https://pubmed.ncbi.nlm.nih.gov/15756539