FORABOSCO, PAOLA
FORABOSCO, PAOLA
Istituto di Ricerca Genetica e Biomedica - IRGB
A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
2015 Mencacci N.E.; RubioAgusti I.; Zdebik A.; Asmus F.; Ludtmann M.H.R.; Ryten M.; Plagnol V.; Hauser A.K.; BandresCiga S.; Bettencourt C.; Forabosco P.; Hughes D.; Soutar M.M.P.; Peall K.; Morris H.R.; Trabzuni D.; Tekman M.; Stanescu H.C.; Kleta R.; Carecchio M.; Zorzi G.; Nardocci N.; Garavaglia B.; Lohmann E.; Weissbach A.; Klein C.; Hardy J.; Pittman A.M.; Foltynie T.; Abramov A.Y.; Gasser T.; Bhatia K.P.; Wood N.W.
A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2
2000 Lo Nigro C.; Cusano R.; Scaranari M.; Cinti R.; Forabosco P.; Morra V.B.; De Michele G.; Santoro L.; Davies S.; Hurst J.; Devoto M.; Ravazzolo R.; Seri M.
A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia
2020 Busonero, Fabio; Steri, Maristella; Orru, Valeria; Sole, Gabriella; Olla, Stefania; Marongiu, Michele; Maschio, Andrea; Sidore, Carlo; Lai, Sandra; Mulas, Antonella; Zoledziewska, Magdalena; Floris, Matteo; Pala, Mauro; Forabosco, Paola; Asunis, Isadora; Pitzalis, Maristella; Deidda, Francesca; Masala, Marco; Caria, Cristian Antonio; Barella, Susanna; Abecasis, Goncalo R.; Schlessinger, David; Sanna, Serena; Fiorillo, Edoardo; Cucca, Francesco
An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks
2017 Botia, Ja; Vandrovcova, J; Forabosco, P; Guelfi, S; D'Sa, K; Hardy, J; Lewis, Cm; Ryten, M; Weale, Me; Ramasamy, A; Trabzuni, D; Smith, C; Walker, R
An integrated map of chromosome 9
1995 COLLINS A.; FORABOSCO P.; LAWRENCE S.; MORTON N.E.
Analisi di geni candidati nella malattia di Alzheimer in Sardegna.
1999 C. Rozzo; G. Palomba; C. Fraumene; P. Forabosco; V. Putzu; P.F. Putzu; A. Rotondo; R. Salvo; A. Nieddu;M. Pirastu.
Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction [1]
2001 De Giorgio, R; Seri, M; Cogliandro, Rf; Cusano, R; Fava, M; Caroli, F; Panetta, D; Forabosco, P; Barbara, G; Ravazzolo, R; Ceccherini, I; Corinaldesi, R; Stanghellini, V
Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis.
2011 Tore S; Casula S; Casu G; Concas MP; Pistidda P; Persico I; Sassu A; Maestrale GB; Mele C; Caruso MR; Bonerba B; Usai P; Deiana I; Thornton T; Pirastu M; Forabosco P
Association of Crohn's disease and ulcerative colitis with haplotypes of the MLH1 gene in Italian inflammatory bowel disease patients [2]
2002 Annese, V; Piepoli, A; Andriulli, A; Latiano, A; Napolitano, G; Li, Hh; Forabosco, P; Devoto, M
Association of the IL-10 Gene Family Locus on Chromosome 1 with Juvenile Idiopathic Arthritis (JIA)
2012 Ebun Omoyinmi; Paola Forabosco;Raja Hamaoui; Annette Bryant; Anne Hinks; Simona Ursu; Childhood Arthritis Prospective Study CAPS; BSPAR study group;Childhood Arthritis Response to Medication Study CHARMS; Lucy R. Wedderburn; Wendy Thomson; Cathryn M. Lewis;Patricia Woo
Association studies of candidate genes for Alzheimer's disease in a North Sardinian population.
2000 Rozzo, C; Palomba, G; Fraumene, C; Forabosco, P; Putzu, V; Putzu, Pf; Rotondo, A; Salvo, R; Nieddu, A; Pirastu, M
Autosomal dominant aplasia cutis congenita: Report of a large Italian family and no hint for candidate chromosomal regions
1999 Fimiani M.; Seri M.; Rubegni P.; Cusano R.; De Aloe G.; Forabosco P.; Devoto M.; Andreassi L.; Renieri A.
Bitter taste study in a sardinian genetic isolate supports the association of phenylthiocarbamide sensitivity to the TAS2R38 bitter receptor gene.
2004 Prodi DA; Drayna D; Forabosco P; Palmas MA; Maestrale GB; Piras D; Pirastu M; Angius A.
CD4 and CD8 T lymphocyte inheritance. Evidence for major autosomal recessive genes
1999 Clementi M.; Forabosco P.; Amadori A.; Zamarchi R.; De Silvestro G.; Di Gianantonio E.; ChiecoBianchi L.; Tenconi R.
Characterizing the Relation Between Expression QTLs and Complex Traits: Exploring the Role of Tissue Specificity
2018 Ip, Hf; Jansen, R; Abdellaoui, A; Bartels, M; Ryten, M; Hardy, J; Weale, Me; Ramasamy, A; Forabosco, P; Matarin, M; Vandrovcova, J; Botia, Ja; D'Sa, K; Guelfi, S; Smith, C; Walker, R; Reynolds, Rh; Zhang, D; Trabzuni, D; Boomsma, Di; Nivard, Mg
Combined segregation and linkage analysis of inflammatory bowel disease in the IBD1 region using severity to characterise Crohn's disease and ulcerative colitis
2000 Forabosco, P; Collins, A; Latiano, A; Annese, V; Clementi, M; Andriulli, A; Fortina, P; Devoto, M; Morton, NE
Data acquisition for meta-analysis of genome-wide linkage studies using the genome search meta-analysis method.
2007 Forabosco P;Ng MY, Bouzigon E; Fisher SA;Levinson DF; Lewis CM
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders
2020 Mencacci N.E.; Reynolds R.; Ruiz S.G.; Vandrovcova J.; Forabosco P.; SanchezFerrer A.; Volpato V.; Weale M.E.; Bhatia K.P.; Webber C.; Hardy J.; Botia J.A.; Ryten M.; Botia J.A.; D'Sa K.; Forabosco P.; Guelfi S.; Hardy J.; Vandrovcova J.; Mackenzie C.A.; Ramasamy A.; Ryten M.; Smith C.; Trabzuni D.; Weale M.E.; Noyce A.J.; Kaiyrzhanov R.; Middlehurst B.; Kia D.A.; Tan M.; Houlden H.; Morris H.R.; PlunFavreau H.; Holmans P.; Hardy J.; Trabzuni D.; Bras J.; Quinn J.; Mok K.Y.; Kinghorn K.J.; Billingsley K.; Wood N.W.; Lewis P.; Guerreiro R.; Lovering R.; R'Bibo L.; Manzoni C.; Rizig M.; Ryten M.; Guelfi S.; EscottPrice V.; Chelban V.; Foltynie T.; Williams N.; Shashakin C.; Zharkinbekova N.; Zholdybayeva E.; Aitkulova A.; Harvey K.; Brice A.; Danjou F.; Lesage S.; Corvol J.C.; Martinez M.; Giri A.; Schulte C.; Brockmann K.; SimonSanchez J.; Heutink P.; Rizzu P.; Sharma M.; Gasser T.; Nicolas A.; Cookson M.R.; BandresCiga S.; Blauwendraat C.; Craig D.W.; Faghri F.; Raphael Gibbs J.; Hernandez D.G.; van KeurenJensen K.; Shulman J.M.; Leonard H.L.; Nalls M.A.; Robak L.; Lubbe S.; Finkbeiner S.; Mencacci N.E.; Lungu C.; Singleton A.B.; Scholz S.W.; Reed X.; van KeurenJensen K.; GanOr Z.; Rouleau G.A.; van Hilten J.J.; Marinus J.; AdarmesGomez A.D.; Aguilar M.; Alvarez I.; Alvarez V.; Barrero F.J.; Yarza J.A.B.; BernalBernal I.; Blazquez M.; BonillaToribio M.; Botia J.A.; Boungiorno M.T.; BuizaRueda D.; Camara A.; Carcel M.; Carrillo F.; CarrionClaro M.; Cerdan D.; Clarimon J.; Compta Y.; DiezFairen M.; DolsIcardo O.; Duarte J.; Duran R.; EscamillaSevilla F.; Ezquerra M.; Fernandez M.; FernandezSantiago R.; Garcia C.; GarciaRuiz P.; GomezGarre P.; Heredia M.J.G.; GonzalezAramburu I.; Pagola A.G.; Hoenicka J.; Infante J.; Jesus S.; JimenezEscrig A.; Kulisevsky J.; LabradorEspinosa M.A.; LopezSendon J.L.; de Munain Arregui A.L.; Macias D.; Marin J.; Marti M.J.; MartinezCastrillo J.C.; MendezDelBarrio C.; Gonzalez M.M.; Minguez A.; Mir P.; Rezola E.M.; Munoz E.; Pagonabarraga J.; Pastor P.; Errazquin F.P.; PerinanTocino T.; RuizMartinez J.; Ruz C.; Rodriguez A.S.; Sierra M.; SuarezSanmartin E.; Tabernero C.; Tartari J.P.; TejeraParrado C.; Tolosa E.; Valldeoriola F.; VargasGonzalez L.; Vela L.; Vives F.; Zimprich A.; Pihlstrom L.; Taba P.; Koks S.
Empirical significance of association tests of related cases and controls in isolated populations with known genealogy
2003 Forabosco P; Falchi M; Cappio Borlino C
Feasibility of complex pedigrees in an isolated population for QTL mapping of cholesterol levels.
2002 Falchi, M; Forabosco, P; Petretto, E; Angius, A; Borlino, Cc; Persico, I; Maestrale, Gb; Fanciulli, M; Bebbere, D; Prodl, Da; Fraumene, C; Palmas MA Melis, Pm; Pirastu, M
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia | 1-gen-2015 | Mencacci N.E.; RubioAgusti I.; Zdebik A.; Asmus F.; Ludtmann M.H.R.; Ryten M.; Plagnol V.; Hauser A.K.; BandresCiga S.; Bettencourt C.; Forabosco P.; Hughes D.; Soutar M.M.P.; Peall K.; Morris H.R.; Trabzuni D.; Tekman M.; Stanescu H.C.; Kleta R.; Carecchio M.; Zorzi G.; Nardocci N.; Garavaglia B.; Lohmann E.; Weissbach A.; Klein C.; Hardy J.; Pittman A.M.; Foltynie T.; Abramov A.Y.; Gasser T.; Bhatia K.P.; Wood N.W. | |
| A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2 | 1-gen-2000 | Lo Nigro C.; Cusano R.; Scaranari M.; Cinti R.; Forabosco P.; Morra V.B.; De Michele G.; Santoro L.; Davies S.; Hurst J.; Devoto M.; Ravazzolo R.; Seri M. | |
| A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia | 1-gen-2020 | Busonero, Fabio; Steri, Maristella; Orru, Valeria; Sole, Gabriella; Olla, Stefania; Marongiu, Michele; Maschio, Andrea; Sidore, Carlo; Lai, Sandra; Mulas, Antonella; Zoledziewska, Magdalena; Floris, Matteo; Pala, Mauro; Forabosco, Paola; Asunis, Isadora; Pitzalis, Maristella; Deidda, Francesca; Masala, Marco; Caria, Cristian Antonio; Barella, Susanna; Abecasis, Goncalo R.; Schlessinger, David; Sanna, Serena; Fiorillo, Edoardo; Cucca, Francesco | |
| An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks | 1-gen-2017 | Botia, Ja; Vandrovcova, J; Forabosco, P; Guelfi, S; D'Sa, K; Hardy, J; Lewis, Cm; Ryten, M; Weale, Me; Ramasamy, A; Trabzuni, D; Smith, C; Walker, R | |
| An integrated map of chromosome 9 | 1-gen-1995 | COLLINS A.; FORABOSCO P.; LAWRENCE S.; MORTON N.E. | |
| Analisi di geni candidati nella malattia di Alzheimer in Sardegna. | 1-gen-1999 | C. Rozzo; G. Palomba; C. Fraumene; P. Forabosco; V. Putzu; P.F. Putzu; A. Rotondo; R. Salvo; A. Nieddu;M. Pirastu. | |
| Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction [1] | 1-gen-2001 | De Giorgio, R; Seri, M; Cogliandro, Rf; Cusano, R; Fava, M; Caroli, F; Panetta, D; Forabosco, P; Barbara, G; Ravazzolo, R; Ceccherini, I; Corinaldesi, R; Stanghellini, V | |
| Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis. | 1-gen-2011 | Tore S; Casula S; Casu G; Concas MP; Pistidda P; Persico I; Sassu A; Maestrale GB; Mele C; Caruso MR; Bonerba B; Usai P; Deiana I; Thornton T; Pirastu M; Forabosco P | |
| Association of Crohn's disease and ulcerative colitis with haplotypes of the MLH1 gene in Italian inflammatory bowel disease patients [2] | 1-gen-2002 | Annese, V; Piepoli, A; Andriulli, A; Latiano, A; Napolitano, G; Li, Hh; Forabosco, P; Devoto, M | |
| Association of the IL-10 Gene Family Locus on Chromosome 1 with Juvenile Idiopathic Arthritis (JIA) | 1-gen-2012 | Ebun Omoyinmi; Paola Forabosco;Raja Hamaoui; Annette Bryant; Anne Hinks; Simona Ursu; Childhood Arthritis Prospective Study CAPS; BSPAR study group;Childhood Arthritis Response to Medication Study CHARMS; Lucy R. Wedderburn; Wendy Thomson; Cathryn M. Lewis;Patricia Woo | |
| Association studies of candidate genes for Alzheimer's disease in a North Sardinian population. | 1-gen-2000 | Rozzo, C; Palomba, G; Fraumene, C; Forabosco, P; Putzu, V; Putzu, Pf; Rotondo, A; Salvo, R; Nieddu, A; Pirastu, M | |
| Autosomal dominant aplasia cutis congenita: Report of a large Italian family and no hint for candidate chromosomal regions | 1-gen-1999 | Fimiani M.; Seri M.; Rubegni P.; Cusano R.; De Aloe G.; Forabosco P.; Devoto M.; Andreassi L.; Renieri A. | |
| Bitter taste study in a sardinian genetic isolate supports the association of phenylthiocarbamide sensitivity to the TAS2R38 bitter receptor gene. | 1-gen-2004 | Prodi DA; Drayna D; Forabosco P; Palmas MA; Maestrale GB; Piras D; Pirastu M; Angius A. | |
| CD4 and CD8 T lymphocyte inheritance. Evidence for major autosomal recessive genes | 1-gen-1999 | Clementi M.; Forabosco P.; Amadori A.; Zamarchi R.; De Silvestro G.; Di Gianantonio E.; ChiecoBianchi L.; Tenconi R. | |
| Characterizing the Relation Between Expression QTLs and Complex Traits: Exploring the Role of Tissue Specificity | 1-gen-2018 | Ip, Hf; Jansen, R; Abdellaoui, A; Bartels, M; Ryten, M; Hardy, J; Weale, Me; Ramasamy, A; Forabosco, P; Matarin, M; Vandrovcova, J; Botia, Ja; D'Sa, K; Guelfi, S; Smith, C; Walker, R; Reynolds, Rh; Zhang, D; Trabzuni, D; Boomsma, Di; Nivard, Mg | |
| Combined segregation and linkage analysis of inflammatory bowel disease in the IBD1 region using severity to characterise Crohn's disease and ulcerative colitis | 1-gen-2000 | Forabosco, P; Collins, A; Latiano, A; Annese, V; Clementi, M; Andriulli, A; Fortina, P; Devoto, M; Morton, NE | |
| Data acquisition for meta-analysis of genome-wide linkage studies using the genome search meta-analysis method. | 1-gen-2007 | Forabosco P;Ng MY, Bouzigon E; Fisher SA;Levinson DF; Lewis CM | |
| Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders | 1-gen-2020 | Mencacci N.E.; Reynolds R.; Ruiz S.G.; Vandrovcova J.; Forabosco P.; SanchezFerrer A.; Volpato V.; Weale M.E.; Bhatia K.P.; Webber C.; Hardy J.; Botia J.A.; Ryten M.; Botia J.A.; D'Sa K.; Forabosco P.; Guelfi S.; Hardy J.; Vandrovcova J.; Mackenzie C.A.; Ramasamy A.; Ryten M.; Smith C.; Trabzuni D.; Weale M.E.; Noyce A.J.; Kaiyrzhanov R.; Middlehurst B.; Kia D.A.; Tan M.; Houlden H.; Morris H.R.; PlunFavreau H.; Holmans P.; Hardy J.; Trabzuni D.; Bras J.; Quinn J.; Mok K.Y.; Kinghorn K.J.; Billingsley K.; Wood N.W.; Lewis P.; Guerreiro R.; Lovering R.; R'Bibo L.; Manzoni C.; Rizig M.; Ryten M.; Guelfi S.; EscottPrice V.; Chelban V.; Foltynie T.; Williams N.; Shashakin C.; Zharkinbekova N.; Zholdybayeva E.; Aitkulova A.; Harvey K.; Brice A.; Danjou F.; Lesage S.; Corvol J.C.; Martinez M.; Giri A.; Schulte C.; Brockmann K.; SimonSanchez J.; Heutink P.; Rizzu P.; Sharma M.; Gasser T.; Nicolas A.; Cookson M.R.; BandresCiga S.; Blauwendraat C.; Craig D.W.; Faghri F.; Raphael Gibbs J.; Hernandez D.G.; van KeurenJensen K.; Shulman J.M.; Leonard H.L.; Nalls M.A.; Robak L.; Lubbe S.; Finkbeiner S.; Mencacci N.E.; Lungu C.; Singleton A.B.; Scholz S.W.; Reed X.; van KeurenJensen K.; GanOr Z.; Rouleau G.A.; van Hilten J.J.; Marinus J.; AdarmesGomez A.D.; Aguilar M.; Alvarez I.; Alvarez V.; Barrero F.J.; Yarza J.A.B.; BernalBernal I.; Blazquez M.; BonillaToribio M.; Botia J.A.; Boungiorno M.T.; BuizaRueda D.; Camara A.; Carcel M.; Carrillo F.; CarrionClaro M.; Cerdan D.; Clarimon J.; Compta Y.; DiezFairen M.; DolsIcardo O.; Duarte J.; Duran R.; EscamillaSevilla F.; Ezquerra M.; Fernandez M.; FernandezSantiago R.; Garcia C.; GarciaRuiz P.; GomezGarre P.; Heredia M.J.G.; GonzalezAramburu I.; Pagola A.G.; Hoenicka J.; Infante J.; Jesus S.; JimenezEscrig A.; Kulisevsky J.; LabradorEspinosa M.A.; LopezSendon J.L.; de Munain Arregui A.L.; Macias D.; Marin J.; Marti M.J.; MartinezCastrillo J.C.; MendezDelBarrio C.; Gonzalez M.M.; Minguez A.; Mir P.; Rezola E.M.; Munoz E.; Pagonabarraga J.; Pastor P.; Errazquin F.P.; PerinanTocino T.; RuizMartinez J.; Ruz C.; Rodriguez A.S.; Sierra M.; SuarezSanmartin E.; Tabernero C.; Tartari J.P.; TejeraParrado C.; Tolosa E.; Valldeoriola F.; VargasGonzalez L.; Vela L.; Vives F.; Zimprich A.; Pihlstrom L.; Taba P.; Koks S. | |
| Empirical significance of association tests of related cases and controls in isolated populations with known genealogy | 1-gen-2003 | Forabosco P; Falchi M; Cappio Borlino C | |
| Feasibility of complex pedigrees in an isolated population for QTL mapping of cholesterol levels. | 1-gen-2002 | Falchi, M; Forabosco, P; Petretto, E; Angius, A; Borlino, Cc; Persico, I; Maestrale, Gb; Fanciulli, M; Bebbere, D; Prodl, Da; Fraumene, C; Palmas MA Melis, Pm; Pirastu, M |