PERSICO, IVANA
PERSICO, IVANA
Istituto di Ricerca Genetica e Biomedica - IRGB - Sede Secondaria Sassari
Combination of mutations in genes controlling DNA repair and high mutational load plays a prognostic role in pancreatic ductal adenocarcinoma (PDAC): a retrospective real-life study in Sardinian population
2024 Sini, Maria Cristina; Doro, Maria Grazia; Frogheri, Laura; Zinellu, Angelo; Paliogiannis, Panagiotis; Porcu, Alberto; Scognamillo, Fabrizio; Delogu, Daniele; Santeufemia, Davide Adriano; Persico, Ivana; Palomba, Grazia; Maestrale, Giovanni Battista; Cossu, Antonio; Palmieri, Giuseppe
PD-L1 Expression in Cutaneous Angiosarcomas: A Systematic Review with Meta-Analysis
2023 Lobrano, Renato; Paliogiannis, Panagiotis; Zinellu, Angelo; Palmieri, Giuseppe; Persico, Ivana; Mangoni, Arduino A.; Cossu, Antonio
Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family
2020 Sahi Puneet, Kaur; Mandal, Anirban; Persico, Ivana; Seth, Anju; Crisponi, Laura
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion
2020 Schierz Ingrid Anne, Mandy; Serra, Gregorio; Antona, Vincenzo; Persico, Ivana; Corsello, Giovanni; Piro, Ettore
Landscape of transcriptome variations uncovering known and novel driver events in colorectal carcinoma
2020 Pira, G; Uva, P; Scanu, Am; Rocca, Pc; Murgia, L; Uleri, E; Piu, C; Porcu, A; Carru, C; Manca, A; Persico, I; Muroni, Mr; Sanges, F; Serra, C; Dolei, A; Angius, A; De Miglio, Mr
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP
2019 Angius, Andrea; Uva, Paolo; Oppo, Manuela; Persico, Ivana; Onano, Stefano; Olla, Stefania; Pes, Valentina; Perria, Chiara; Cuccuru, Gianmauro; Atzeni, Rossano; Serra, Gigliola; Cucca, Francesco; Sotgiu, Stefano; Hennekam Raoul, C; Crisponi, Laura
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts
2019 Buers, Insa; Persico, Ivana; Schoening, Lara; Nitschke, Yvonne; Di Rocco, Maja; Loi, Angela; Sahi Puneet, Kaur; Utine Gulen, Eda; Bayraktartanyeri, Bilge; Zampino, Giuseppe; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses
2019 Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Van Allen Margot, I; Hulait, Gurdip; Aubertin, Gudrun; Muntoni, Francesco; Fry Andrew, E; Anneren, Goeran; Stattin, Evalena; Palomaresbralo, Maria; Santossimarro, Fernando; Cucca, Francesco; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS plus phenotypic spectrum: a case report
2019 Alves Rita, Maria; Uva, Paolo; Veiga Marielza, F; Oppo, Manuela; Zschaber Fabiana, C R; Porcu, Giampiero; Porto Henrique, P; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Atzeni, Rossano; Vieira Lauro, C N; Pires Marcos, V A; Cucca, Francesco; Toralles Maria Betania, P; Angius, Andrea; Crisponi, Laura
Erratum: Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa (The American Journal of Human Genetics (2016) 99(1) (236-245) (S0002929716301616) (10.1016/j.ajhg.2016.05.026))
2018 Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Höhne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay, Hatice Tuba; Inan, Sibel; El Assy, Osama; Smit, Leo M.E.; Okur, Ilyas; Boduroglu, Koray; Utine, Gülen Eda; Klç, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome
2018 Angius, A; Cossu, S; Uva, P; Oppo, M; Onano, S; Persico, I; Fotia, G; Atzeni, R; Cuccuru, G; Asunis, M; Cucca, F; Pruna, D; Crisponi, L
A new case series of Crisponi syndrome in a Turkish family and review of the literature
2017 BayraktarTanyeri, Bilge; Hepokur, Mervenur; Bayraktar, Suleyman; Persico, Ivana; Crisponi, Laura
Epileptic phenotypes related to the UNC79-UNC80-NALCN protein complex.
2017 Cossu, S; Angius, A; Oppo, M; Onano, S; Persico, I; Uva, P; Cuccuru, G; Asunis, M; Crisponi, L; Pruna, D
Molecular Characterization of ?-Thalassemia Mutations in Central Vietnam
2017 Doro, Mg; Casu, G; Frogheri, L; Persico, I; Triet, Lpm; Hoa, Ptt; Hoang, Nh; Pirastru, M; Mereu, P; Cucca, F; Masala, B
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
2016 Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Hoehne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay Hatice, Tuba; Inan, Sibel; El Assy, Osama; Smit Leo, M E; Okur, Ilyas; Boduroglu, Koray; Utine Gulen, Eda; Kilic, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank
Meta-analysis identifies multiple loci associated with kidney function–related traits in east Asian populations
2012 Okada, Yukinori; Sim, Xueling; Jin Go, Min; Wu, Jer-Yuarn; Gu, Dongfeng; Takeuchi, Fumihiko; Takahashi, Atsushi; Maeda, Shiro; Tsunoda, Tatsuhiko; Chen, Peng; Lim, Su-Chi; Wong, Tien-Yin; Liu, Jianjun; Young, Terri L.; Aung, Tin; Seielstad, Mark; Teo, Yik-Ying; Jin Kim, Young; Lee, Jong-Young; Han, Bok-Ghee; Kang, Daehee; Chen, Chien-Hsiun; Tsai, Fuu-Jen; Chang, Li-Ching; Cathy Fann, S. -J.; Mei, Hao; Rao, Dabeeru C.; Hixson, James E.; Chen, Shufeng; Katsuya, Tomohiro; Isono, Masato; Ogihara, Toshio; Chambers, John C.; Zhang, Weihua; Kooner, Jaspal S.; KidneyGen consortium, The; CKDGen consortium, The; Albrecht, Eva; GUGC consortium, The; Yamamoto, Kazuhiko; Kubo, Michiaki; Nakamura, Yusuke; Kamatani, Naoyuki; Kato, Norihiro; He, Jiang; Chen, Yuan-Tsong; Shin Cho, Yoon; Tai, E-Shyong; Tanaka, Toshihiro; C Chambers, John; Zhang, Weihua; M Lord–, Graham; van der Harst, Pim; A Lawlor, Debbie; S Sehmi, Joban; P Gale, Daniel; N Wass, Mark; R Ahmadi, Kourosh; L Bakker, Stephan J; Beckmann, Jacqui; G Bilo, Henk J; Bochud, Murielle; J Brown, Morris; J Caulfield, Mark; C Connell, John M; Terence Cook, H; Cotlarciuc, Ioana; Davey Smith, George; de Silva, Ranil; Deng, Guohong; Devuyst, Olivier; D Dikkeschei, Lambert; Dimkovic, Nada; Dockrell, Mark; Dominiczak, Anna; Ebrahim, Shah; Eggermann, Thomas; Farrall, Martin; Ferrucci, Luigi; Floege, Jurgen; G Forouhi, Nita; T Gansevoort, Ron; Han, Xijin; Hedblad, Bo; J Homan van der Heide, Jaap; G Hepkema, Bouke; Hernandez-Fuentes–, Maria; Hypponen, Elina; Johnson, Toby; E de Jong, Paul; Kleefstra, Nanne; Lagou, Vasiliki; Lapsley, Marta; Li, Yun; F Loos, Ruth J; Luan, Jian’An; Luttropp, Karin; Maréchal, Céline; Melander, Olle; B Munroe, Patricia; Nordfors, Louise; Parsa, Afshin; Peltonen–, Leena; W Penninx–, Brenda; Perucha–, Esperanza; Pouta, Anneli; Prokopenko–, Inga; J Roderick, Paul; Ruokonen, Aimo; J Samani, Nilesh; Sanna, Serena; Schalling, Martin; Schlessinger, David; Schlieper, Georg; J Seelen, Marc A; R Shuldiner, Alan; Sjögren, Marketa; H Smit–, Johannes; Snieder, Harold; Soranzo, Nicole; D Spector, Timothy; Stenvinkel, Peter; E Sternberg, Michael J; Swaminathan, Ramasamyiyer; Tanaka, Toshiko; J Ubink-Veltmaat, Lielith; Uda, Manuela; Vollenweider, Peter; Wallace, Chris; Waterworth, Dawn; Zerres, Klaus; Waeber, Gerard; J Wareham, Nicholas; H Maxwell, Patrick; I McCarthy–, Mark; Jarvelin, Marjo-Riitta; Mooser, Vincent; R Abecasis, Goncalo; Lightstone, Liz; Scott, James; Navis, Gerjan; Elliott, Paul; &, ; S Kooner, Jaspal; Köttgen, Anna; Pattaro, Cristian; A Böger, Carsten; Fuchsberger, Christian; Olden, Matthias; L Glazer, Nicole; Parsa, Afshin; Gao, Xiaoyi; Yang, Qiong; V Smith, Albert; R O’Connell, Jeffrey; Li, Man; Schmidt, Helena; Tanaka, Toshiko; Isaacs, Aaron; Ketkar, Shamika; Hwang, Shih-Jen; D Johnson, Andrew; Dehghan, Abbas; Teumer, Alexander; Paré, Guillaume; J Atkinson, Elizabeth; Zeller, Tanja; Lohman, Kurt; C Cornelis, Marilyn; M Probst-Hensch, Nicole; Kronenberg, Florian; Tönjes, Anke; Hayward, Caroline; Aspelund, Thor; Eiriksdottir, Gudny; J Launer, Lenore; B Harris, Tamara; Rampersaud, Evadnie; D Mitchell, Braxton; E Arking, Dan; Boerwinkle, Eric; Struchalin, Maksim; Cavalieri, Margherita; Singleton, Andrew; Giallauria, Francesco; Metter, Jeffrey; H de Boer, Ian; Haritunians, Talin; Lumley, Thomas; Siscovick, David; M Psaty–, Bruce; Carola Zillikens, M; A Oostra, Ben; Feitosa, Mary; Province, Michael; de Andrade, Mariza; T Turner, Stephen; Schillert, Arne; Ziegler, Andreas; S Wild, Philipp; B Schnabel, Renate; Wilde, Sandra; F Munzel, Thomas; S Leak, Tennille; Illig, Thomas; Klopp, Norman; Meisinger, Christa; Wichmann–, H-Erich; Koenig, Wolfgang; Zgaga, Lina; Zemunik, Tatijana; Kolcic, Ivana; Minelli, Cosetta; B Hu, Frank; Johansson, Åsa; Igl, Wilmar; Zaboli, Ghazal; H Wild, Sarah; F Wright, Alan; Campbell, Harry; Ellinghaus, David; Schreiber, Stefan; S Aulchenko, Yurii; F Felix, Janine; Rivadeneira, Fernando; G Uitterlinden, Andre; Hofman, Albert; Imboden, Medea; Nitsch, Dorothea; Brandstätter, Anita; Kollerits, Barbara; Kedenko, Lyudmyla; Mägi, Reedik; Stumvoll, Michael; Kovacs, Peter; Boban, Mladen; Campbell, Susan; Endlich, Karlhans; Völzke, Henry; K Kroemer, Heyo; Nauck, Matthias; Völker, Uwe; Polasek, Ozren; Vitart, Veronique; Badola, Sunita; N Parker, Alexander; M Ridker, Paul; R Kardia, Sharon L; Blankenberg, Stefan; Liu, Yongmei; C Curhan, Gary; Franke, Andre; Rochat, Thierry; Paulweber, Bernhard; Prokopenko, Inga; Wang, Wei; Gudnason, Vilmundur; R Shuldiner, Alan; Coresh, Josef; Schmidt, Reinhold; Ferrucci, Luigi; G Shlipak, Michael; M van Duijn, Cornelia; Borecki, Ingrid; K Krämer, Bernhard; Rudan, Igor; Gyllensten, Ulf; F Wilson, James; C Witteman, Jacqueline; P Pramstaller, Peter; Rettig, Rainer; Hastie, Nick; I Chasman, Daniel; H Kao, W; M Heid, Iris; &, ; S Fox, Caroline; Köttgen, Anna; Albrecht, Eva; Teumer, Alexander; Vitart, Veronique; Krumsiek, Jan; Hundertmark, Claudia; Pistis, Giorgio; Ruggiero, Daniela; M O’Seaghdha, Conall; Haller, Toomas; Yang, Qiong; Tanaka, Toshiko; D Johnson, Andrew; Kutalik, Zoltán; V Smith, Albert; Shi, Julia; Struchalin, Maksim; PS Middelberg, Rita; J Brown, Morris; L Gaffo, Angelo; Pirastu, Nicola; Li, Guo; Hayward, Caroline; Zemunik, Tatijana; Huffman, Jennifer; Yengo, Loic; Hua Zhao, Jing; Demirkan, Ayse; F Feitosa, Mary; Liu, Xuan; Malerba, Giovanni; M Lopez, Lorna; van der Harst, Pim; Li, Xinzhong; E Kleber, Marcus; A Hicks, Andrew; M Nolte, Ilja; Johansson, Asa; Murgia, Federico; H Wild, Sarah; JL Bakker, Stephan; F Peden, John; Dehghan, Abbas; Steri, Maristella; Tenesa, Albert; Lagou, Vasiliki; Salo, Perttu; Mangino, Massimo; M Rose, Lynda; Lehtimäki, Terho; M Woodward, Owen; Okada, Yukinori; Tin, Adrienne; Müller, Christian; Oldmeadow, Christopher; Putku, Margus; Czamara, Darina; Kraft, Peter; Frogheri, Laura; Andri Thun, Gian; Grotevendt, Anne; Kjartan Gislason, Gauti; B Harris, Tamara; J Launer, Lenore; Mcardle, Patrick; R Shuldiner, Alan; Boerwinkle, Eric; Coresh, Josef; Schmidt, Helena; Schallert, Michael; G Martin, Nicholas; W Montgomery, Grant; Kubo, Michiaki; Nakamura, Yusuke; Tanaka, Toshihiro; B Munroe, Patricia; J Samani, Nilesh; R Jacobs Jr, David; Liu, Kiang; D'Adamo, Pio; Ulivi, Sheila; I Rotter, Jerome; M Psaty, Bruce; Vollenweider, Peter; Waeber, Gerard; Campbell, Susan; Devuyst, Olivier; Navaro, Pau; Kolcic, Ivana; Hastie, Nicholas; Balkau, Beverley; Froguel, Philippe; Esko, Tõnu; Salumets, Andres; Tee Khaw, Kay; Langenberg, Claudia; J Wareham, Nicholas; Isaacs, Aaron; Kraja, Aldi; Zhang, Qunyuan; S Wild, Philipp; J Scott, Rodney; G Holliday, Elizabeth; Org, Elin; Viigimaa, Margus; Bandinelli, Stefania; E Metter, Jeffrey; Lupo, Antonio; Trabetti, Elisabetta; Sorice, Rossella; Döring, Angela; Lattka, Eva; Strauch, Konstantin; Theis, Fabian; Waldenberger, Melanie; Wichmann, H-Erich; Davies, Gail; J Gow, Alan; Bruinenberg, Marcel; Cohort Study, Lifelines; P Stolk, Ronald; S Kooner, Jaspal; Zhang, Weihua; R Winkelmann, Bernhard; O Boehm, Bernhard; Lucae, Susanne; W Penninx-, Brenda; H Smit, Johannes; Curhan, Gary; Mudgal, Poorva; M Plenge, Robert; Portas, Laura; Persico, Ivana; Kirin, Mirna; F Wilson, James; Mateo Leach, Irene; H van Gilst, Wiek; Goel, Anuj; Ongen, Halit; Hofman, Albert; Rivadeneira, Fernando; G Uitterlinden, Andre; Imboden, Medea; von Eckardstein, Arnold; Cucca, Francesco; Nagaraja, Ramaiah; Piras, MARIA GRAZIA; Nauck, Matthias; Schurmann, Claudia; Budde, Kathrin; Ernst, Florian; M Farrington, Susan; Theodoratou, Evropi; Prokopenko, Inga; Stumvoll, Michael; Jula, Antti; Perola, Markus; Salomaa, Veikko; Shin, So-Youn; D Spector, Tim; Sala, Cinzia; M Ridker, Paul; Kähönen, Mika; Viikari, Jorma; Hengstenberg, Christian; P Nelson, Christopher; CARDIoGRAM Consortium, The; DIAGRAM Consortium, The; ICBP Consortium, The; MAGIC Consortium, The; F Meschia, James; A Nalls, Michael; Sharma, Pankaj; B Singleton, Andrew; Kamatani, Naoyuki; Zeller, Tanja; Burnier, Michel; Attia, John; Laan, Maris; Klopp, Norman; L Hillege, Hans; Kloiber, Stefan; Choi, Hyon; Pirastu, Mario; Tore, Silvia; M Probst-Hensch, Nicole; Völzke, Henry; Gudnason, Vilmundur; Parsa, Afshin; Schmidt, Reinhold; B Whitfield, John; Fornage, Myriam; Gasparini, Paolo; S Siscovick, David; Polasek, Ozren; Campbell, Harry; Rudan, Igor; Bouatia-Naji, Nabila; Metspalu, Andres; JF Loos, Ruth; M van Duijn, Cornelia; B Borecki, Ingrid; Ferrucci, Luigi; Gambaro, Giovanni; J Deary, Ian; HR Wolffenbuttel, Bruce; C Chambers, John; März, Winfried; P Pramstaller, Peter; Snieder, Harold; Gyllensten, Ulf; F Wright, Alan; Navis, Gerjan; Watkins on behalf of PROCARDIS, Hugh; CM Witteman, Jacqueline; Sanna, Serena; Schipf, Sabine; G Dunlop, Malcolm; Tönjes, Anke; Ripatti, Samuli; Soranzo, Nicole; Toniolo, Daniela; I Chasman, Daniel; Raitakari, Olli; Linda Kao, Wh; Ciullo, Marina; S Fox, Caroline; Caulfield, Mark; Bochud, Murielle; Gieger, Christian
A strategy analysis for genetic association studies with known inbreeding.
2011 Cabras, S; Castellanos, Me; Biino, G; Persico, I; Sassu, A; Casula, L; Del Giacco, S; Bertolino, F; Pirastu, M; Pirastu, N
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
High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis.
2009 Pistis G; Piras I; Pirastu N; Persico I; Sassu A; Picciau A; Prodi D; Fraumene C; Mocci E; Manias MT; Atzeni R; Cosso M; Pirastu M; Angius A
Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations
2009 Mocci, Evelina; Concas Maria, P; Fanciulli, Manuela; Pirastu, Nicola; Adamo, Mauro; Cabras, Valentina; Fraumene, Cristina; Persico, Ivana; Sassu, Alessandro; Picciau, Andrea; Prodi Dionigio, A; Serra, Donatella; Biino, Ginevra; Pirastu, Mario; Angius, Andrea
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Combination of mutations in genes controlling DNA repair and high mutational load plays a prognostic role in pancreatic ductal adenocarcinoma (PDAC): a retrospective real-life study in Sardinian population | 1-gen-2024 | Sini, Maria Cristina; Doro, Maria Grazia; Frogheri, Laura; Zinellu, Angelo; Paliogiannis, Panagiotis; Porcu, Alberto; Scognamillo, Fabrizio; Delogu, Daniele; Santeufemia, Davide Adriano; Persico, Ivana; Palomba, Grazia; Maestrale, Giovanni Battista; Cossu, Antonio; Palmieri, Giuseppe | |
| PD-L1 Expression in Cutaneous Angiosarcomas: A Systematic Review with Meta-Analysis | 1-gen-2023 | Lobrano, Renato; Paliogiannis, Panagiotis; Zinellu, Angelo; Palmieri, Giuseppe; Persico, Ivana; Mangoni, Arduino A.; Cossu, Antonio | |
| Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family | 1-gen-2020 | Sahi Puneet, Kaur; Mandal, Anirban; Persico, Ivana; Seth, Anju; Crisponi, Laura | |
| Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion | 1-gen-2020 | Schierz Ingrid Anne, Mandy; Serra, Gregorio; Antona, Vincenzo; Persico, Ivana; Corsello, Giovanni; Piro, Ettore | |
| Landscape of transcriptome variations uncovering known and novel driver events in colorectal carcinoma | 1-gen-2020 | Pira, G; Uva, P; Scanu, Am; Rocca, Pc; Murgia, L; Uleri, E; Piu, C; Porcu, A; Carru, C; Manca, A; Persico, I; Muroni, Mr; Sanges, F; Serra, C; Dolei, A; Angius, A; De Miglio, Mr | |
| Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP | 1-gen-2019 | Angius, Andrea; Uva, Paolo; Oppo, Manuela; Persico, Ivana; Onano, Stefano; Olla, Stefania; Pes, Valentina; Perria, Chiara; Cuccuru, Gianmauro; Atzeni, Rossano; Serra, Gigliola; Cucca, Francesco; Sotgiu, Stefano; Hennekam Raoul, C; Crisponi, Laura | |
| Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts | 1-gen-2019 | Buers, Insa; Persico, Ivana; Schoening, Lara; Nitschke, Yvonne; Di Rocco, Maja; Loi, Angela; Sahi Puneet, Kaur; Utine Gulen, Eda; Bayraktartanyeri, Bilge; Zampino, Giuseppe; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura | |
| Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses | 1-gen-2019 | Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Van Allen Margot, I; Hulait, Gurdip; Aubertin, Gudrun; Muntoni, Francesco; Fry Andrew, E; Anneren, Goeran; Stattin, Evalena; Palomaresbralo, Maria; Santossimarro, Fernando; Cucca, Francesco; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura | |
| Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS plus phenotypic spectrum: a case report | 1-gen-2019 | Alves Rita, Maria; Uva, Paolo; Veiga Marielza, F; Oppo, Manuela; Zschaber Fabiana, C R; Porcu, Giampiero; Porto Henrique, P; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Atzeni, Rossano; Vieira Lauro, C N; Pires Marcos, V A; Cucca, Francesco; Toralles Maria Betania, P; Angius, Andrea; Crisponi, Laura | |
| Erratum: Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa (The American Journal of Human Genetics (2016) 99(1) (236-245) (S0002929716301616) (10.1016/j.ajhg.2016.05.026)) | 1-gen-2018 | Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Höhne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay, Hatice Tuba; Inan, Sibel; El Assy, Osama; Smit, Leo M.E.; Okur, Ilyas; Boduroglu, Koray; Utine, Gülen Eda; Klç, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank | |
| Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome | 1-gen-2018 | Angius, A; Cossu, S; Uva, P; Oppo, M; Onano, S; Persico, I; Fotia, G; Atzeni, R; Cuccuru, G; Asunis, M; Cucca, F; Pruna, D; Crisponi, L | |
| A new case series of Crisponi syndrome in a Turkish family and review of the literature | 1-gen-2017 | BayraktarTanyeri, Bilge; Hepokur, Mervenur; Bayraktar, Suleyman; Persico, Ivana; Crisponi, Laura | |
| Epileptic phenotypes related to the UNC79-UNC80-NALCN protein complex. | 1-gen-2017 | Cossu, S; Angius, A; Oppo, M; Onano, S; Persico, I; Uva, P; Cuccuru, G; Asunis, M; Crisponi, L; Pruna, D | |
| Molecular Characterization of ?-Thalassemia Mutations in Central Vietnam | 1-gen-2017 | Doro, Mg; Casu, G; Frogheri, L; Persico, I; Triet, Lpm; Hoa, Ptt; Hoang, Nh; Pirastru, M; Mereu, P; Cucca, F; Masala, B | |
| Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa | 1-gen-2016 | Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Hoehne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay Hatice, Tuba; Inan, Sibel; El Assy, Osama; Smit Leo, M E; Okur, Ilyas; Boduroglu, Koray; Utine Gulen, Eda; Kilic, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank | |
| Meta-analysis identifies multiple loci associated with kidney function–related traits in east Asian populations | 1-gen-2012 | Okada, Yukinori; Sim, Xueling; Jin Go, Min; Wu, Jer-Yuarn; Gu, Dongfeng; Takeuchi, Fumihiko; Takahashi, Atsushi; Maeda, Shiro; Tsunoda, Tatsuhiko; Chen, Peng; Lim, Su-Chi; Wong, Tien-Yin; Liu, Jianjun; Young, Terri L.; Aung, Tin; Seielstad, Mark; Teo, Yik-Ying; Jin Kim, Young; Lee, Jong-Young; Han, Bok-Ghee; Kang, Daehee; Chen, Chien-Hsiun; Tsai, Fuu-Jen; Chang, Li-Ching; Cathy Fann, S. -J.; Mei, Hao; Rao, Dabeeru C.; Hixson, James E.; Chen, Shufeng; Katsuya, Tomohiro; Isono, Masato; Ogihara, Toshio; Chambers, John C.; Zhang, Weihua; Kooner, Jaspal S.; KidneyGen consortium, The; CKDGen consortium, The; Albrecht, Eva; GUGC consortium, The; Yamamoto, Kazuhiko; Kubo, Michiaki; Nakamura, Yusuke; Kamatani, Naoyuki; Kato, Norihiro; He, Jiang; Chen, Yuan-Tsong; Shin Cho, Yoon; Tai, E-Shyong; Tanaka, Toshihiro; C Chambers, John; Zhang, Weihua; M Lord–, Graham; van der Harst, Pim; A Lawlor, Debbie; S Sehmi, Joban; P Gale, Daniel; N Wass, Mark; R Ahmadi, Kourosh; L Bakker, Stephan J; Beckmann, Jacqui; G Bilo, Henk J; Bochud, Murielle; J Brown, Morris; J Caulfield, Mark; C Connell, John M; Terence Cook, H; Cotlarciuc, Ioana; Davey Smith, George; de Silva, Ranil; Deng, Guohong; Devuyst, Olivier; D Dikkeschei, Lambert; Dimkovic, Nada; Dockrell, Mark; Dominiczak, Anna; Ebrahim, Shah; Eggermann, Thomas; Farrall, Martin; Ferrucci, Luigi; Floege, Jurgen; G Forouhi, Nita; T Gansevoort, Ron; Han, Xijin; Hedblad, Bo; J Homan van der Heide, Jaap; G Hepkema, Bouke; Hernandez-Fuentes–, Maria; Hypponen, Elina; Johnson, Toby; E de Jong, Paul; Kleefstra, Nanne; Lagou, Vasiliki; Lapsley, Marta; Li, Yun; F Loos, Ruth J; Luan, Jian’An; Luttropp, Karin; Maréchal, Céline; Melander, Olle; B Munroe, Patricia; Nordfors, Louise; Parsa, Afshin; Peltonen–, Leena; W Penninx–, Brenda; Perucha–, Esperanza; Pouta, Anneli; Prokopenko–, Inga; J Roderick, Paul; Ruokonen, Aimo; J Samani, Nilesh; Sanna, Serena; Schalling, Martin; Schlessinger, David; Schlieper, Georg; J Seelen, Marc A; R Shuldiner, Alan; Sjögren, Marketa; H Smit–, Johannes; Snieder, Harold; Soranzo, Nicole; D Spector, Timothy; Stenvinkel, Peter; E Sternberg, Michael J; Swaminathan, Ramasamyiyer; Tanaka, Toshiko; J Ubink-Veltmaat, Lielith; Uda, Manuela; Vollenweider, Peter; Wallace, Chris; Waterworth, Dawn; Zerres, Klaus; Waeber, Gerard; J Wareham, Nicholas; H Maxwell, Patrick; I McCarthy–, Mark; Jarvelin, Marjo-Riitta; Mooser, Vincent; R Abecasis, Goncalo; Lightstone, Liz; Scott, James; Navis, Gerjan; Elliott, Paul; &, ; S Kooner, Jaspal; Köttgen, Anna; Pattaro, Cristian; A Böger, Carsten; Fuchsberger, Christian; Olden, Matthias; L Glazer, Nicole; Parsa, Afshin; Gao, Xiaoyi; Yang, Qiong; V Smith, Albert; R O’Connell, Jeffrey; Li, Man; Schmidt, Helena; Tanaka, Toshiko; Isaacs, Aaron; Ketkar, Shamika; Hwang, Shih-Jen; D Johnson, Andrew; Dehghan, Abbas; Teumer, Alexander; Paré, Guillaume; J Atkinson, Elizabeth; Zeller, Tanja; Lohman, Kurt; C Cornelis, Marilyn; M Probst-Hensch, Nicole; Kronenberg, Florian; Tönjes, Anke; Hayward, Caroline; Aspelund, Thor; Eiriksdottir, Gudny; J Launer, Lenore; B Harris, Tamara; Rampersaud, Evadnie; D Mitchell, Braxton; E Arking, Dan; Boerwinkle, Eric; Struchalin, Maksim; Cavalieri, Margherita; Singleton, Andrew; Giallauria, Francesco; Metter, Jeffrey; H de Boer, Ian; Haritunians, Talin; Lumley, Thomas; Siscovick, David; M Psaty–, Bruce; Carola Zillikens, M; A Oostra, Ben; Feitosa, Mary; Province, Michael; de Andrade, Mariza; T Turner, Stephen; Schillert, Arne; Ziegler, Andreas; S Wild, Philipp; B Schnabel, Renate; Wilde, Sandra; F Munzel, Thomas; S Leak, Tennille; Illig, Thomas; Klopp, Norman; Meisinger, Christa; Wichmann–, H-Erich; Koenig, Wolfgang; Zgaga, Lina; Zemunik, Tatijana; Kolcic, Ivana; Minelli, Cosetta; B Hu, Frank; Johansson, Åsa; Igl, Wilmar; Zaboli, Ghazal; H Wild, Sarah; F Wright, Alan; Campbell, Harry; Ellinghaus, David; Schreiber, Stefan; S Aulchenko, Yurii; F Felix, Janine; Rivadeneira, Fernando; G Uitterlinden, Andre; Hofman, Albert; Imboden, Medea; Nitsch, Dorothea; Brandstätter, Anita; Kollerits, Barbara; Kedenko, Lyudmyla; Mägi, Reedik; Stumvoll, Michael; Kovacs, Peter; Boban, Mladen; Campbell, Susan; Endlich, Karlhans; Völzke, Henry; K Kroemer, Heyo; Nauck, Matthias; Völker, Uwe; Polasek, Ozren; Vitart, Veronique; Badola, Sunita; N Parker, Alexander; M Ridker, Paul; R Kardia, Sharon L; Blankenberg, Stefan; Liu, Yongmei; C Curhan, Gary; Franke, Andre; Rochat, Thierry; Paulweber, Bernhard; Prokopenko, Inga; Wang, Wei; Gudnason, Vilmundur; R Shuldiner, Alan; Coresh, Josef; Schmidt, Reinhold; Ferrucci, Luigi; G Shlipak, Michael; M van Duijn, Cornelia; Borecki, Ingrid; K Krämer, Bernhard; Rudan, Igor; Gyllensten, Ulf; F Wilson, James; C Witteman, Jacqueline; P Pramstaller, Peter; Rettig, Rainer; Hastie, Nick; I Chasman, Daniel; H Kao, W; M Heid, Iris; &, ; S Fox, Caroline; Köttgen, Anna; Albrecht, Eva; Teumer, Alexander; Vitart, Veronique; Krumsiek, Jan; Hundertmark, Claudia; Pistis, Giorgio; Ruggiero, Daniela; M O’Seaghdha, Conall; Haller, Toomas; Yang, Qiong; Tanaka, Toshiko; D Johnson, Andrew; Kutalik, Zoltán; V Smith, Albert; Shi, Julia; Struchalin, Maksim; PS Middelberg, Rita; J Brown, Morris; L Gaffo, Angelo; Pirastu, Nicola; Li, Guo; Hayward, Caroline; Zemunik, Tatijana; Huffman, Jennifer; Yengo, Loic; Hua Zhao, Jing; Demirkan, Ayse; F Feitosa, Mary; Liu, Xuan; Malerba, Giovanni; M Lopez, Lorna; van der Harst, Pim; Li, Xinzhong; E Kleber, Marcus; A Hicks, Andrew; M Nolte, Ilja; Johansson, Asa; Murgia, Federico; H Wild, Sarah; JL Bakker, Stephan; F Peden, John; Dehghan, Abbas; Steri, Maristella; Tenesa, Albert; Lagou, Vasiliki; Salo, Perttu; Mangino, Massimo; M Rose, Lynda; Lehtimäki, Terho; M Woodward, Owen; Okada, Yukinori; Tin, Adrienne; Müller, Christian; Oldmeadow, Christopher; Putku, Margus; Czamara, Darina; Kraft, Peter; Frogheri, Laura; Andri Thun, Gian; Grotevendt, Anne; Kjartan Gislason, Gauti; B Harris, Tamara; J Launer, Lenore; Mcardle, Patrick; R Shuldiner, Alan; Boerwinkle, Eric; Coresh, Josef; Schmidt, Helena; Schallert, Michael; G Martin, Nicholas; W Montgomery, Grant; Kubo, Michiaki; Nakamura, Yusuke; Tanaka, Toshihiro; B Munroe, Patricia; J Samani, Nilesh; R Jacobs Jr, David; Liu, Kiang; D'Adamo, Pio; Ulivi, Sheila; I Rotter, Jerome; M Psaty, Bruce; Vollenweider, Peter; Waeber, Gerard; Campbell, Susan; Devuyst, Olivier; Navaro, Pau; Kolcic, Ivana; Hastie, Nicholas; Balkau, Beverley; Froguel, Philippe; Esko, Tõnu; Salumets, Andres; Tee Khaw, Kay; Langenberg, Claudia; J Wareham, Nicholas; Isaacs, Aaron; Kraja, Aldi; Zhang, Qunyuan; S Wild, Philipp; J Scott, Rodney; G Holliday, Elizabeth; Org, Elin; Viigimaa, Margus; Bandinelli, Stefania; E Metter, Jeffrey; Lupo, Antonio; Trabetti, Elisabetta; Sorice, Rossella; Döring, Angela; Lattka, Eva; Strauch, Konstantin; Theis, Fabian; Waldenberger, Melanie; Wichmann, H-Erich; Davies, Gail; J Gow, Alan; Bruinenberg, Marcel; Cohort Study, Lifelines; P Stolk, Ronald; S Kooner, Jaspal; Zhang, Weihua; R Winkelmann, Bernhard; O Boehm, Bernhard; Lucae, Susanne; W Penninx-, Brenda; H Smit, Johannes; Curhan, Gary; Mudgal, Poorva; M Plenge, Robert; Portas, Laura; Persico, Ivana; Kirin, Mirna; F Wilson, James; Mateo Leach, Irene; H van Gilst, Wiek; Goel, Anuj; Ongen, Halit; Hofman, Albert; Rivadeneira, Fernando; G Uitterlinden, Andre; Imboden, Medea; von Eckardstein, Arnold; Cucca, Francesco; Nagaraja, Ramaiah; Piras, MARIA GRAZIA; Nauck, Matthias; Schurmann, Claudia; Budde, Kathrin; Ernst, Florian; M Farrington, Susan; Theodoratou, Evropi; Prokopenko, Inga; Stumvoll, Michael; Jula, Antti; Perola, Markus; Salomaa, Veikko; Shin, So-Youn; D Spector, Tim; Sala, Cinzia; M Ridker, Paul; Kähönen, Mika; Viikari, Jorma; Hengstenberg, Christian; P Nelson, Christopher; CARDIoGRAM Consortium, The; DIAGRAM Consortium, The; ICBP Consortium, The; MAGIC Consortium, The; F Meschia, James; A Nalls, Michael; Sharma, Pankaj; B Singleton, Andrew; Kamatani, Naoyuki; Zeller, Tanja; Burnier, Michel; Attia, John; Laan, Maris; Klopp, Norman; L Hillege, Hans; Kloiber, Stefan; Choi, Hyon; Pirastu, Mario; Tore, Silvia; M Probst-Hensch, Nicole; Völzke, Henry; Gudnason, Vilmundur; Parsa, Afshin; Schmidt, Reinhold; B Whitfield, John; Fornage, Myriam; Gasparini, Paolo; S Siscovick, David; Polasek, Ozren; Campbell, Harry; Rudan, Igor; Bouatia-Naji, Nabila; Metspalu, Andres; JF Loos, Ruth; M van Duijn, Cornelia; B Borecki, Ingrid; Ferrucci, Luigi; Gambaro, Giovanni; J Deary, Ian; HR Wolffenbuttel, Bruce; C Chambers, John; März, Winfried; P Pramstaller, Peter; Snieder, Harold; Gyllensten, Ulf; F Wright, Alan; Navis, Gerjan; Watkins on behalf of PROCARDIS, Hugh; CM Witteman, Jacqueline; Sanna, Serena; Schipf, Sabine; G Dunlop, Malcolm; Tönjes, Anke; Ripatti, Samuli; Soranzo, Nicole; Toniolo, Daniela; I Chasman, Daniel; Raitakari, Olli; Linda Kao, Wh; Ciullo, Marina; S Fox, Caroline; Caulfield, Mark; Bochud, Murielle; Gieger, Christian | |
| A strategy analysis for genetic association studies with known inbreeding. | 1-gen-2011 | Cabras, S; Castellanos, Me; Biino, G; Persico, I; Sassu, A; Casula, L; Del Giacco, S; Bertolino, F; Pirastu, M; Pirastu, N | |
| 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 | |
| High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis. | 1-gen-2009 | Pistis G; Piras I; Pirastu N; Persico I; Sassu A; Picciau A; Prodi D; Fraumene C; Mocci E; Manias MT; Atzeni R; Cosso M; Pirastu M; Angius A | |
| Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations | 1-gen-2009 | Mocci, Evelina; Concas Maria, P; Fanciulli, Manuela; Pirastu, Nicola; Adamo, Mauro; Cabras, Valentina; Fraumene, Cristina; Persico, Ivana; Sassu, Alessandro; Picciau, Andrea; Prodi Dionigio, A; Serra, Donatella; Biino, Ginevra; Pirastu, Mario; Angius, Andrea |