FORTINA, PAOLO MARIA

FORTINA, PAOLO MARIA  

DIPARTIMENTO DI MEDICINA TRASLAZIONALE E DI PRECISIONE  

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A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability 2011 Nicoletta, Villa; Angela, Bentivegna; Adam, Ertel; Serena, Redaelli; Carla, Colombo; Renata, Nacinovich; Fiorenza, Broggi; Sara, Lissoni; Silvia, Bungaro; Sankar, Addya; Fortina, Paolo; Leda, Dalpra
A distinct GM-CSF+ T helper cell subset requires T-bet to adopt a TH1 phenotype and promote neuroinflammation 2020 Rasouli, J.; Casella, G.; Yoshimura, S.; Zhang, W.; Xiao, D.; Garifallou, J.; Gonzalez, M. V.; Wiedeman, A.; Kus, A.; Mari, E. R.; Fortina, P.; Hakonarson, H.; Long, S. A.; Zhang, G. -X.; Ciric, B.; Rostami, A.
A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing. 2000 M., Margaglione; R., Santacroce; D., Colaizzo; D., Seripa; G., Vecchione; M. R., Lupone; D., De Lucia; Fortina, Paolo; E., Grandone; C., Perricone; G., Di Minno
A greater than 200 kb deletion removing the entire beta-like globin gene cluster in a family of Irish descent. 1991 Fortina, Paolo; K., Delgrosso; E., Werner; K., Haines; E., Rappaport; E., Schwartz; S., Surrey
A large deletion encompassing the entire alpha-like globin gene cluster in a family of northern European extraction. 1988 Fortina, Paolo; K., Delgrosso; E., Rappaport; M., Poncz; S. K., Ballas; E., Schwartz; S., Surrey
A newly-characterized alpha-thalassaemia-1 deletion removes the entire alpha-like globin gene cluster in an Italian family. 1991 Fortina, Paolo; I., Dianzani; A., Serra; E., Gottardi; G., Saglio; L., Farinasso; A., Piga; V., Gabutti; C., Camaschella
A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan technology. 2000 Restagno, G; Gomez, Am; Sbaiz, L; De Gobbi, M; Roetto, A; Bertino, E; Fabris, C; Fiorucci, Gc; Fortina, Paolo; Camaschella, C.
A tandem duplication of chromosome 21 in a newborn showing non-down like features. 2010 Martinoli, E; Zuccotti, Gv; Pogliani, L; Volontè, M; Venturin, M; Fortina, Paolo; Ertel, A; Redaelli, S; Riva, P; Dalprà, L.
Absence of the fragile X CGG trinucleotide repeat expansion in girls diagnosed with a pervasive developmental disorder. 1998 G. A., Meyer; N. J., Blum; W., Hitchcock; Fortina, Paolo
Acute Myeloid Leukemia 2017 Fortina, P; Londin, E; Park, Jy; Kricka, Lj
Allelic association of microsatellites of 6p in Italian hemochromatosis patients. 1996 C., Camaschella; A., Roetto; P., Gasparini; A., Piperno; Fortina, Paolo; S., Surrey; E., Rappaport
alpha-thalassemia caused by a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene including the first nucleotide of the poly A signal sequence. 1997 H., Tamary; G., Klinger; L., Shalmon; D., Attias; Fortina, Paolo; M., Kobayashi; S., Surrey; R., Zaizov
Analysis of 13 cell types reveals evidence for the expression of numerous novel primate- And tissue-specific microRNAs 2015 Londina, Eric; Lohera, Phillipe; Telonis, Aristeidis G.; Quann, Kevin; Clark, Peter; Jinga, Yi; Hatzimichael, Eleftheria; Kirino, Yohei; Honda, Shozo; Lally, Michelle; Ramratnam, Bharat; Comstock, Clay E. S.; Knudsen, Karen E.; Gomella, Leonard; Spaeth, George L.; Hark, Lisa; Katz, L. Jay; Witkiewicz, Agnieszka; Rostami, Abdolmohamad; Jimenez, Sergio A.; Hollingsworth, Michael A.; Yeh, Jen Jen; Shaw, Chad A.; Mckenzie, Steven E.; Bray, Paul; Nelson, Peter T.; Zupo, Simona; Van Roosbroeck, Katrien; Keating, Michael J.; Calin, Georg A.; Yeo, Charles; Jimbo, Masaya; Cozzitorto, Joseph; Brody, Jonathan R.; Delgrosso, Kathleen; Mattick, John S.; Fortina, Paolo; Rigoutsos, Isidore
Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis. 1999 P., Gasparini; E., Arbustini; G., Restagno; L., Zelante; P., Stanziale; L., Gatta; L., Sbaiz; A. M., Sedita; N., Banchieri; L., Sapone; G. C., Fiorucci; E., Brinson; E., Shulse; E., Rappaport; Fortina, Paolo
Analysis of CARD15 gene mutations in Italian pediatric patients with inflammatory bowel disease. 2005 A., Ferraris; Knafelz, D; Torres, B; Fortina, Paolo; Castro, M; Dallapiccola, B.
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology 2002 R., Santacroce; A., Ratti; F., Caroli; B., Foglieni; Alessandro, Ferraris; L., Cremonesi; M., Margaglione; M., Seri; R., Ravazzolo; G., Restagno; DALLA PICCOLA, Bruno; E., Rappaport; E. S., Pollak; S., Surrey; M., Ferrari; Fortina, Paolo
Analysis of short tandem repeat markers by capillary array electrophoresis. 2001 Elaine S., Mansfield; Robert B., Wilson; Fortina, Paolo
Analytical ancestry: evolution of the array in analysis. 2010 L. J., Kricka; K., Imai; Fortina, Paolo
Analytical Ancestry: “Firsts” in Fluorescent Labeling of Nucleosides, Nucleotides, and Nucleic Acids 2009 Kricka, Lj; Fortina, Paolo
Angiotensin converting enzyme gene deletion allele is independently and strongly associated with coronary atherosclerosis and myocardial infarction. 1995 E., Arbustini; M., Grasso; R., Fasani; C., Klersy; M., Diegoli; E., Porcu; N., Banchieri; Fortina, Paolo; C., Danesino; G., Specchia