Zobrazeno 1 - 10
of 99
pro vyhledávání: '"Sperandeo MP"'
Autor:
Dubois PC, Trynka G, Francke L, Hunt KA, Rpmanos J, Curtotti A, Zhernakova A, Heap GA, Adàny R, Aromaa A, Bardella MT, Van Den Berg LH, Bockett NA, De La Concha EG, DEma B, Fehrmann RS, Fernandez Aquero M, Fiatal S, Grandone E, Green PM, Groen HJ, Gwilliam R, Houwn RH, Hunt SE, Kaukinen K, Kelleher D, Korponay Szabo I, Kurppa K, Mac Mathuna P, Maki M, Mazzilli MC, McCann OT, Mearin ML, Mein CA, Mirza MM, Mistry V, Mora B, Morley KI, Mulder CJ, Murray JA, Nunez C, Oosterom E, Ophoff RA, Polanco I, Peltonen L, Platteel M, Rybak A, Salomaa V, Schweizer JJ, Sperandeo MP, Tack GJ, Turner G, Veldink JH, Verbeek WH, Weersma RK, Wolters WM, Urcelay E, Cukrowska B, Neuhausen SL, McManus R, Barisani D, Deloukas P, Barrett JC, Saavalainen P, Wijmenga C, Van Heel DA, GRECO, LUIGI
We performed a second-generation genome-wide association study of 4,533 individuals with celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with P(GWAS) < 10(-4) and 18 SNPs from 14 known loci in a further 4,918 cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::a9f83733ed613dd5b9f22f2c58da1f02
http://hdl.handle.net/11588/365958
http://hdl.handle.net/11588/365958
Autor:
SPERANDEO MP, UNGARO P, VERNUCCI M, PEDONE PV, CERRATO F, PERONE L, CASOLA S, CUBELLIS, MARIA VITTORIA, SEBASTIO G, RICCIO A., BRUNI, CARMELO BRUNO, ANDRIA, GENEROSO
Beckwith-Wiedeman syndrome (BWS) and Klippel-Trenaunay-Weber syndrome (KTWS) are different human disorders characterized, among other features, by tissue overgrowth. Deregulation of one or more imprinted genes located at chromosome 11p15.5, of which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::08541dfff4a3959b1c4fbcd6ab375189
http://hdl.handle.net/11588/131549
http://hdl.handle.net/11588/131549
Autor:
Grasso M, Faravelli F, Lo Nigro C, Chiurazzi P, Sperandeo MP, Argusti A, Pomponi MG, Lecora M, Sebastio GF, Perroni L, Neri G, Bricarelli F.D., ANDRIA, GENEROSO
Publikováno v:
American journal of medical genetics. 85(3)
The molecular mechanism of the fragile X syndrome is based on the expansion of an unstable CGG repeat in the 5' untranslated region of the FMR1 gene in most patients. This expansion is associated with an abnormal DNA methylation leading to the absenc
Autor:
BORSANI G., BASSI MT, SPERANDEO MP, DE GRANDI A., BUONINCONTI A., RIBONI M., MANZONI M., INCERTI B., BALLABIO, ANDREA, SEBASTIO G., ANDRIA, GENEROSO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::d2e4c1014ff4a14310e95267f2e2f365
http://hdl.handle.net/11588/153487
http://hdl.handle.net/11588/153487
Autor:
Kraus JP, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M., ANDRIA, GENEROSO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::e412fc514d47e8bfc0d857af0d3f858f
http://hdl.handle.net/11588/460630
http://hdl.handle.net/11588/460630
Autor:
DE BRASI D, ESPOSITO T, ROSSI M, SPERANDEO MP, ZUPPALDI A, BARDARO T, AMBRUZZI MA, ZELANTE L, CICCODICOLA A, SEBASTIO G, D\'URSO M. ANDRIA G., PARENTI, GIANCARLO
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis characterised by facial dysmorphisms, mental retardation and multiple congenital anomalies. SLOS is caused by mutations of the human Delta7-sterol re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::24780024e965e56bc3dcf91d1040752f
http://hdl.handle.net/11588/157317
http://hdl.handle.net/11588/157317