PERSICO, IVANA
PERSICO, IVANA
Istituto di Ricerca Genetica e Biomedica - IRGB
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
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
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
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 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
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
Dissecting the genetic contribution of a QTL within the DCP1 gone on ACE level.
2002 Angius, A; Petretto, E; Persico, I; Fanciulli, M; Bebbere, D; Pernisa, A; Baldinu, R; Maestrale, Gb; Melis, Pm; Pirastu, M
EDA2R Is Associated with Androgenetic Alopecia.
2008 Prodi, Da; Pirastu, N; Maninchedda, G; Sassu, A; Picciau, A; Palmas, Ma; Mossa, A; Persico, I; Adamo, M; Angius, A; Pirastu, M
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
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
Essential Hypertension is associated to several worldwide genetic factors in a Sardinian genetic isolate
2007 E Mocci; V Cabras; N Pirastu; MP Concas; C Fraumene; M Adamo; I Persico; G Biino; M Pirastu; A Angius
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
Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations.
2004 Tenesa A; Wright AF; Knott SA; Carothers AD; Hayward C; Angius A; Persico I; Maestrale G; Hastie ND; Pirastu M; Visscher PM.
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
Genetic and molecular alterations in pancreatic cancer progression by next generation sequencing
2020 Frogheri, Laura; Doro, MARIA GRAZIA; Sini, MARIA CRISTINA; Casula, Milena; Pisano, Marina; Persico, Ivana; Colombino, Maria; Casu, Giuseppina; Manca, Antonella; Palmieri, Giuseppe
Genome-wide analysis of 50 quantitative traits in an isolated village of Ogliastra
2009 F. Murgia; L. Portas; N. Pirastu; M. Cosso; I. Persico; A. Sassu; MP Concas ;C. Fraumene; M. Pirastu
Germline and somatic NGS-based analysis on BRCA-related tumors
2020 Sini, MARIA CRISTINA; Palomba, Grazia; Pisano, Marina; Rozzo, Carla; Manca, Antonella; Persico, Ivana; Frogheri, Laura; Doro, MARIA GRAZIA; Palmieri, Giuseppe
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
Identification of a founder BRCA2 mutation in Sardinia
2000 Pisano M; Cossu A; Persico I; Palmieri G; Angius A; Casu G; Palomba G; Sarobba MG; Rocca PC; Dedola MF; Olmeo N; Pasca A; Budroni M; Marras V; Pisano A; Farris A; Massarelli G; Pirastu M; Tanda F
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| 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 | |
| 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 | |
| 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 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 | |
| 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 | |
| Dissecting the genetic contribution of a QTL within the DCP1 gone on ACE level. | 1-gen-2002 | Angius, A; Petretto, E; Persico, I; Fanciulli, M; Bebbere, D; Pernisa, A; Baldinu, R; Maestrale, Gb; Melis, Pm; Pirastu, M | |
| EDA2R Is Associated with Androgenetic Alopecia. | 1-gen-2008 | Prodi, Da; Pirastu, N; Maninchedda, G; Sassu, A; Picciau, A; Palmas, Ma; Mossa, A; Persico, I; Adamo, M; Angius, A; Pirastu, M | |
| 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 | |
| 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 | |
| Essential Hypertension is associated to several worldwide genetic factors in a Sardinian genetic isolate | 1-gen-2007 | E Mocci; V Cabras; N Pirastu; MP Concas; C Fraumene; M Adamo; I Persico; G Biino; M Pirastu; A Angius | |
| 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 | |
| Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations. | 1-gen-2004 | Tenesa A; Wright AF; Knott SA; Carothers AD; Hayward C; Angius A; Persico I; Maestrale G; Hastie ND; Pirastu M; Visscher PM. | |
| 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 | |
| Genetic and molecular alterations in pancreatic cancer progression by next generation sequencing | 1-gen-2020 | Frogheri, Laura; Doro, MARIA GRAZIA; Sini, MARIA CRISTINA; Casula, Milena; Pisano, Marina; Persico, Ivana; Colombino, Maria; Casu, Giuseppina; Manca, Antonella; Palmieri, Giuseppe | |
| Genome-wide analysis of 50 quantitative traits in an isolated village of Ogliastra | 1-gen-2009 | F. Murgia; L. Portas; N. Pirastu; M. Cosso; I. Persico; A. Sassu; MP Concas ;C. Fraumene; M. Pirastu | |
| Germline and somatic NGS-based analysis on BRCA-related tumors | 1-gen-2020 | Sini, MARIA CRISTINA; Palomba, Grazia; Pisano, Marina; Rozzo, Carla; Manca, Antonella; Persico, Ivana; Frogheri, Laura; Doro, MARIA GRAZIA; Palmieri, Giuseppe | |
| 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 | |
| Identification of a founder BRCA2 mutation in Sardinia | 1-gen-2000 | Pisano M; Cossu A; Persico I; Palmieri G; Angius A; Casu G; Palomba G; Sarobba MG; Rocca PC; Dedola MF; Olmeo N; Pasca A; Budroni M; Marras V; Pisano A; Farris A; Massarelli G; Pirastu M; Tanda F |