Zobrazeno 1 - 10
of 1 322
pro vyhledávání: '"Lupski JR"'
Autor:
Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, de Souza CFM, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G
GNB5 encodes the G protein beta subunit 5 and is involved in inhibitory G protein signaling. Here, we report mutations in GNB5 that are associated with heart-rate disturbance, eye disease, intellectual disability, gastric problems, hypotonia, and sei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::79b2ae479c6aac9627bfad0b2f0289cb
http://hdl.handle.net/11588/873942
http://hdl.handle.net/11588/873942
Autor:
Zollo, M, Ahmed, M, Ferrucci, V, Salpietro, V, Asadzadeh, F, Carotenuto, M, Maroofian, R, Al-Amri, A, Singh, R, Scognamiglio, I, Mojarrad, M, Musella, L, Duilio, A, Di Somma, A, Karaca, E, Rajab, A, Al-Khayat, A, Mohan Mohapatra, T, Eslahi, A, Ashrafzadeh, F, Rawlins, LE, Prasad, R, Gupta, R, Kumari, P, Srivastava, M, Cozzolino, F, Kumar Rai, S, Monti, M, Harlalka, GV, Simpson, MA, Rich, P, Al-Salmi, F, Patton, MA, Chioza, BA, Efthymiou, S, Granata, F, Di Rosa, G, Wiethoff, S, Borgione, E, Scuderi, C, Mankad, K, Hanna, MG, Pucci, P, Houlden, H, Lupski, JR, Crosby, AH, Baple, EL
Publikováno v:
Zollo, M, Ahmed, M, Ferrucci, V, Salpietro, V, Asadzadeh, F, Carotenuto, M, Maroofian, R, Al-Amri, A, Singh, R, Scognamiglio, I, Mojarrad, M, Musella, L, Duilio, A, Di Somma, A, Karaca, E, Rajab, A, Al-Khayat, A, Mohapatra, T M, Eslahi, A, Ashrafzadeh, F, Rawlins, L E, Prasad, R, Gupta, R, Kumari, P, Srivastava, M, Cozzolino, F, Rai, S K, Monti, M, Harlalka, G V, Simpson, M A, Rich, P, Al-Salmi, F, Patton, M A, Chioza, B A, Efthymiou, S, Granata, F, Di Rosa, G, Wiethoff, S, Borgione, E, Scuderi, C, Mankad, K, Hanna, M G, Pucci, P, Houlden, H, Lupski, J R, Crosby, A H & Baple, E L 2017, ' PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment ', Brain, vol. 140, no. 4, pp. 940-952 . https://doi.org/10.1093/brain/awx014
Brain
Brain
Zollo et al. report that mutations in PRUNE1, a phosphoesterase superfamily molecule, underlie primary microcephaly and profound global developmental delay in four unrelated families from Oman, India, Iran and Italy. The study highlights a potential
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e2db02146623e2293cb66ae2ab226462
https://kclpure.kcl.ac.uk/en/publications/d23a6486-88f7-43d9-b2d1-97053dd5be1a
https://kclpure.kcl.ac.uk/en/publications/d23a6486-88f7-43d9-b2d1-97053dd5be1a
Autor:
Fieremans N, Van Esch H, Holvoet M, Van Goethem G, Devriendt K, Rosello M, Mayo S, Martinez F, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Vermeesch JR, Marynen P, Froyen G
Publikováno v:
HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Intellectual disability (ID) is a heterogeneous disorder with an unknown molecular etiology in many cases. Previously, X-linked ID (XLID) studies focused on males because of the hemizygous state of their X chromosome. Carrier females are generally un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::0af045b0cb515a04fc4ef0afdb3df000
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3637
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3637
Autor:
BRUNETTI PIERRI, NICOLA, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham H, Lee B, Shinawi M, Shen J, Kang S. HL, Pursley A, Lotze T, Kennedy G, Lansky Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong C. T, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung S. W, Patel A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::317718ef8afc345231a669dc41259ca0
http://hdl.handle.net/11588/363126
http://hdl.handle.net/11588/363126
Autor:
GUZZETTA V, TRASK BJ, ZHANG H, SAUCEDO CARDENAS O, MONTES DE OCA LUNA R, GREENBERG F, CHINAULT AC, LUPSKI JR AND PATEL P.I., FRANCO, BRUNELLA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::6cd109669e1c31c1c83b6b1a20ed0e03
http://hdl.handle.net/11588/143877
http://hdl.handle.net/11588/143877