PERSICO, IVANA
PERSICO, IVANA
Istituto di Ricerca Genetica e Biomedica - IRGB
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 A.M.; Rocca P.C.; Murgia L.; Uleri E.; Piu C.; Porcu A.; Carru C.; Manca A.; Persico I.; Muroni M.R.; Sanges F.; Serra C.; Dolei A.; Angius A.; De Miglio M.R.
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
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
Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.
2009 Mocci E; Concas MP; Fanciulli M; Pirastu N; Adamo M; Cabras V; Fraumene C; Persico I; Sassu A; Picciau A; Prodi DA; Serra D; Biino G; Pirastu M; Angius A.
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
Patterns of linkage disequilibrium between SNPs in a Sardinian population isolate
2008 Angius, A; Hyland, Fc; Persico, I; Pirastu, N; Woodage, T; Pirastu, M; De la Vega, Fm
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 A.M.; Rocca P.C.; Murgia L.; Uleri E.; Piu C.; Porcu A.; Carru C.; Manca A.; Persico I.; Muroni M.R.; Sanges F.; Serra C.; Dolei A.; Angius A.; De Miglio M.R. | |
| 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 | |
| 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 | |
| Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations. | 1-gen-2009 | Mocci E; Concas MP; Fanciulli M; Pirastu N; Adamo M; Cabras V; Fraumene C; Persico I; Sassu A; Picciau A; Prodi DA; Serra D; Biino G; Pirastu M; Angius A. | |
| 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 | |
| Patterns of linkage disequilibrium between SNPs in a Sardinian population isolate | 1-gen-2008 | Angius, A; Hyland, Fc; Persico, I; Pirastu, N; Woodage, T; Pirastu, M; De la Vega, Fm |