FORTINA, PAOLO MARIA
FORTINA, PAOLO MARIA
DIPARTIMENTO DI MEDICINA TRASLAZIONALE E DI PRECISIONE
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 novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma
2019 Youssefian, L.; Vahidnezhad, H.; Saeidian, A. H.; Mahmoudi, H.; Karamzadeh, R.; Kariminejad, A.; Huang, J.; Li, L.; Jannace, T. F.; Fortina, P.; Zeinali, S.; White, T. W.; Uitto, J.
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.
A β-Catenin-TCF-Sensitive Locus Control Region Mediates GUCY2C Ligand Loss in Colorectal Cancer
2022 Rappaport, J. A.; Entezari, A. A.; Caspi, A.; Caksa, S.; Jhaveri, A. V.; Stanek, T. J.; Ertel, A.; Kupper, J.; Fortina, P. M.; Mcmahon, S. B.; Jaynes, J. B.; Snook, A. E.; Waldman, S. A.
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma | 2019 | Youssefian, L.; Vahidnezhad, H.; Saeidian, A. H.; Mahmoudi, H.; Karamzadeh, R.; Kariminejad, A.; Huang, J.; Li, L.; Jannace, T. F.; Fortina, P.; Zeinali, S.; White, T. W.; Uitto, J. | |
| 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. | |
| A β-Catenin-TCF-Sensitive Locus Control Region Mediates GUCY2C Ligand Loss in Colorectal Cancer | 2022 | Rappaport, J. A.; Entezari, A. A.; Caspi, A.; Caksa, S.; Jhaveri, A. V.; Stanek, T. J.; Ertel, A.; Kupper, J.; Fortina, P. M.; Mcmahon, S. B.; Jaynes, J. B.; Snook, A. E.; Waldman, S. A. | |
| 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 |