CRISPONI, LAURA
CRISPONI, LAURA
Istituto di Ricerca Genetica e Biomedica - IRGB
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
2012 Naitza S; Porcu E; Steri M; Taub DD; Mulas A; Xiao X; Strait J; Dei M; Lai S; Busonero F; Maschio A; Usala G; Zoledziewska M; Sidore C; Zara I; Pitzalis M; Loi A; Virdis F; Piras R; Deidda F; Whalen MB; Crisponi L; Concas A; Podda C; Uzzau S; Scheet P; Longo DL; Lakatta E; Abecasis GR; Cao A; Schlessinger D; Uda M; Sanna S; Cucca F.
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 Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy
2013 Pippucci, Tommaso; Parmeggiani, Antonia; Palombo, Flavia; Maresca, Alessandra; Angius, Andrea; Crisponi, Laura; Cucca, Francesco; Liguori, Rocco; Valentino, Maria Lucia; Seri, Marco; Carelli, Valerio
A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population
2009 Palomba, G; Loi, A; Uras, A; Fancello, P; Piras, G; Gabbas, A; Cossu, A; Budroni, M; Contu, A; Tanda, F; Farris, A; Orrù, S; Floris, C; Pisano, M; Lovicu, M; Santona, Mc; Landriscina, G; Crisponi, L; Palmieri, G; Monne, M
Aging of oocyte, ovary, and human reproduction
2004 Ottolenghi, Chris; Ottolenghi, Chris; Ottolenghi, Chris; Uda, Manuela; Hamatani, Toshio; Crisponi, Laura; Garcia Jose, Elias; Ko, Minoru; Pilia, Giuseppe; Sforza, Chiarella; Schlessinger, David; Forabosco, Antonino
Aging of oocyte, ovary, and human reproduction.
2004 Ottolenghi C; Uda M; Hamatani T; Crisponi L; Garcia JE; Ko M; Pilia G; Sforza C; Schlessinger D; Forabosco A.
Association of adiposity genetic variants with menarche timing in 92,105 women of European descent.
2013 Fernándezrhodes, Lindsay; W Demerath, Ellen; L Cousminer, Diana; Tao, Ran; G Dreyfus, Jill; Esko, Tõnu; V Smith, Albert; Gudnason, Vilmundur; B Harris, Tamara; Launer, Lenore; F McArdle, Patrick; M YergesArmstrong, Laura; E Elks, Cathy; P Strachan, David; Kutalik, Zoltán; Vollenweider, Peter; Feenstra, Bjarke; A Boyd, Heather; Metspalu, Andres; Mihailov, Evelin; Broer, Linda; Carola Zillikens, M; Oostra, Ben; M van Duijn, Cornelia; L Lunetta, Kathryn; B Perry, John R; Murray, Anna; L Koller, Daniel; Lai, Dongbing; Corre, Tanguy; Toniolo, Daniela; Albrecht, Eva; Stöckl, Doris; Grallert, Harald; Gieger, Christian; Hayward, Caroline; Polasek, Ozren; Rudan, Igor; F Wilson, James; He, Chunyan; Kraft, Peter; B Hu, Frank; J Hunter, David; Hottenga, Joukejan; Willemsen, Gonneke; I Boomsma, Dorret; M Byrne, Enda; G Martin, Nicholas; W Montgomery, Grant; M Warrington, Nicole; E Pennell, Craig; Stolk, Lisette; A Visser, Jenny; Hofman, Albert; G Uitterlinden, André; Rivadeneira, Fernando; Lin, Peng; L Fisher, Sherri; J Bierut, Laura; Crisponi, Laura; Porcu, Eleonora; Mangino, Massimo; Zhai, Guangju; D Spector, Tim; E Buring, Julie; M Rose, Lynda; M Ridker, Paul; Poole, Charles; N Hirschhorn, Joel; M Murabito, Joanne; I Chasman, Daniel; Widen, Elisabeth; E North, Kari; K Ong, Ken; Franceschini, Nora
BCL11A is associated with persistent HbF and ameliorates the ²-thalassemia phenotype.
2008 Uda, M; Galanello, R; Sanna, S; Lettre, G; G Sankaran, V; Usala, G; Busonero, F; Maschio, A; Lai, S; Crisponi, L; Naitza, S; Asunis, I; Deiana, M; Marongiu, M; Porcu, L; Lovicu, M; Nagaraja, R; Perseu, L; Satta, S; Moi, P; H Orkin, S; Al, Et
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
Common variants at ten loci modulate the QT interval duration in the QTSCD Study
2009 Arne Pfeufer,,; Serena Sanna,; Dan E Arking,; Martina Muller; Vesela Gateva;Christian Fuchsberger; Georg B Ehret; Marco Orru ; Cristian Pattaro; Anna Kottgen; Siegfried Perz;Gianluca Usala; Maja Barbalic; Man Li; Benno Putz; Angelo Scuteri; Ronald J Prineas;Moritz F Sinner; Christian Gieger; Samer S Najjar; W H Linda Kao; Thomas W Muhleisen,;Mariano Dei; Christine Happle,; Stefan Mohlenkamp; Laura Crisponi; Raimund Erbel;KarlHeinz Jockel; Silvia Naitza; Gerhard Steinbeck; Fabio Marroni; Andrew A Hicks; Edward Lakatta; Bertram MullerMyhsok; Peter P Pramstaller,,; HErich Wichmann,; David Schlessinger; Eric Boerwinkle; Thomas Meitinger,; Manuela Uda; Josef Coresh,; Stefan Kaab; Goncalo R Abecasis; Aravinda Chakravarti,.
Common variants in the GDF5-BFZB region are associated with variation in human height.
2008 Sanna, Serena; U Jackson, Anne; Nagaraja, Ramaiah; J Willer, Cristen; Chen, Weimin; L Bonnycastle, Lori; Shen, Haiqing; Timpson, Nicholas; Lettre, Guillaume; Usala, Gianluca; S Chines, Peter; M Stringham, Heather; Dei, Mariano; Lai, Sandra; Albai, Giuseppe; Crisponi, Laura; Naitza, Silvia; F Doheny, Kimberly; W Pugh, Elizabeth; Benshlomo, Yoav; Ebrahim, Shah; A Lawlor, Debbie; N Bergman, Richard; M Watanabe, Richard; Uda, Manuela; Tuomilehto, Jaakko; Coresh, Josef; N Hirschhorn, Joel; R Shuldiner, Alan; Schlessinger, David; S Collins, Francis; Davey Smith, George; Boerwinkle, Eric; Cao, Antonio; Boehnke, Michael; R Abecasis, Gonçalo; L Mohlke, Karen
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia
2009 Sanna, Serena; Busonero, Fabio; Maschio, Andrea; F McArdle, Patrick; Usala, Gianluca; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Piras, MARIA GRAZIA; Perseu, Lucia; Masala, Marco; Marongiu, Mara; Crisponi, Laura; Naitza, Silvia; Galanello, Renzo; R Abecasis, Gonçalo; R Shuldiner, Alan; Schlessinger, David; Cao, Antonio; Uda, Manuela
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 Syndrome and Cold-Induced Sweating Type 1: Two Syndromes - One Genetic Entity
2007 L. Crisponi; A. Meloni; M. Marongiu; F. Chiappe; M. Deiana; L. Marcia; G. Zampino; P. Nürnberg; G. Crisponi; F. Rutsch.
Crisponi Syndrome and Cold-induced Sweating Type 1: two syndromes, but one genetic entity
2008 Laura Crisponi; Alessandra Meloni; Mara Marongiu; Francesca Chiappe; Manila Deiana; Giuseppe Zampino; Peter Nürnberg; Giangiorgio Crisponi; Frank Rutsch.
Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus.
2008 Thomas, N; Danda, S; Kumar, M; Jana, Ak; Crisponi, G; Meloni, A; Crisponi, L
Crisponi Syndrome is Caused by Mutations in the CRLF1 Gene and is Allelic to Cold-Induced Sweating Syndrome 1
2007 Crisponi L.; Crisponi G.; Meloni A.; Toliat M.R.; Nürnberg G.; Usala G.; Uda M.; Masala M.; Höhne W.; Becker C.; Marongiu M.; Chiappe F.; Kleta R.; Rauch A.; Wollnik B.; Strasser F.; Reese T.; Jakobs C.; Kurlemann G.; Cao A.; Nürnberg P.; Rutsch F
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1
2007 Crisponi, Laura; Crisponi, Giangiorgio; Meloni, Alessandra; Reza Toliat, Mohammad; Nürnberg, Gudrun; Usala, Gianluca; Uda, Manuela; Masala, Marco; Höhne, Wolfgang; Becker, Christian; Marongiu, Mara; Chiappe, Francesca; Kleta, Robert; Rauch, Anita; Wollnik, Bernd; Strasser, Friedrich; Reese, Thomas; Jakobs, Cornelis; Kurlemann, Gerd; Cao, Antonio; Nürnberg, Peter; Rutsch, Frank
Crisponi Syndrome is Caused by Mutations in the CRLF1 Gene and Shows Allelism to Cold-Induced Sweating Syndrome Type 1
2007 Rutsch, F; Crisponi, L; Meloni, A; R Toliat, M; Nürnberg, G; Usala, G; Uda, M; Masala, M; Höhne, W; Becker, C; Marongiu, M; Chiappe, F; Kleta, R; Rauch, A; Wollnik, B; Strasser, F; Reese, T; Jakobs, C; Kurlemann, G; Cao, A; Nürnberg, P; Crisponi, G
Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line
2020 Buers, Insa; Schoening, Lara; Loges Niki, Tomas; Nitschke, Yvonne; Hoeben Inga, Marlena; Roepke, Albrecht; Crisponi, Laura; Omran, Heymut; Rutsch, Frank
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. | 1-gen-2012 | Naitza S; Porcu E; Steri M; Taub DD; Mulas A; Xiao X; Strait J; Dei M; Lai S; Busonero F; Maschio A; Usala G; Zoledziewska M; Sidore C; Zara I; Pitzalis M; Loi A; Virdis F; Piras R; Deidda F; Whalen MB; Crisponi L; Concas A; Podda C; Uzzau S; Scheet P; Longo DL; Lakatta E; Abecasis GR; Cao A; Schlessinger D; Uda M; Sanna S; Cucca F. | |
| 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 Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy | 1-gen-2013 | Pippucci, Tommaso; Parmeggiani, Antonia; Palombo, Flavia; Maresca, Alessandra; Angius, Andrea; Crisponi, Laura; Cucca, Francesco; Liguori, Rocco; Valentino, Maria Lucia; Seri, Marco; Carelli, Valerio | |
| A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population | 1-gen-2009 | Palomba, G; Loi, A; Uras, A; Fancello, P; Piras, G; Gabbas, A; Cossu, A; Budroni, M; Contu, A; Tanda, F; Farris, A; Orrù, S; Floris, C; Pisano, M; Lovicu, M; Santona, Mc; Landriscina, G; Crisponi, L; Palmieri, G; Monne, M | |
| Aging of oocyte, ovary, and human reproduction | 1-gen-2004 | Ottolenghi, Chris; Ottolenghi, Chris; Ottolenghi, Chris; Uda, Manuela; Hamatani, Toshio; Crisponi, Laura; Garcia Jose, Elias; Ko, Minoru; Pilia, Giuseppe; Sforza, Chiarella; Schlessinger, David; Forabosco, Antonino | |
| Aging of oocyte, ovary, and human reproduction. | 1-gen-2004 | Ottolenghi C; Uda M; Hamatani T; Crisponi L; Garcia JE; Ko M; Pilia G; Sforza C; Schlessinger D; Forabosco A. | |
| Association of adiposity genetic variants with menarche timing in 92,105 women of European descent. | 1-gen-2013 | Fernándezrhodes, Lindsay; W Demerath, Ellen; L Cousminer, Diana; Tao, Ran; G Dreyfus, Jill; Esko, Tõnu; V Smith, Albert; Gudnason, Vilmundur; B Harris, Tamara; Launer, Lenore; F McArdle, Patrick; M YergesArmstrong, Laura; E Elks, Cathy; P Strachan, David; Kutalik, Zoltán; Vollenweider, Peter; Feenstra, Bjarke; A Boyd, Heather; Metspalu, Andres; Mihailov, Evelin; Broer, Linda; Carola Zillikens, M; Oostra, Ben; M van Duijn, Cornelia; L Lunetta, Kathryn; B Perry, John R; Murray, Anna; L Koller, Daniel; Lai, Dongbing; Corre, Tanguy; Toniolo, Daniela; Albrecht, Eva; Stöckl, Doris; Grallert, Harald; Gieger, Christian; Hayward, Caroline; Polasek, Ozren; Rudan, Igor; F Wilson, James; He, Chunyan; Kraft, Peter; B Hu, Frank; J Hunter, David; Hottenga, Joukejan; Willemsen, Gonneke; I Boomsma, Dorret; M Byrne, Enda; G Martin, Nicholas; W Montgomery, Grant; M Warrington, Nicole; E Pennell, Craig; Stolk, Lisette; A Visser, Jenny; Hofman, Albert; G Uitterlinden, André; Rivadeneira, Fernando; Lin, Peng; L Fisher, Sherri; J Bierut, Laura; Crisponi, Laura; Porcu, Eleonora; Mangino, Massimo; Zhai, Guangju; D Spector, Tim; E Buring, Julie; M Rose, Lynda; M Ridker, Paul; Poole, Charles; N Hirschhorn, Joel; M Murabito, Joanne; I Chasman, Daniel; Widen, Elisabeth; E North, Kari; K Ong, Ken; Franceschini, Nora | |
| BCL11A is associated with persistent HbF and ameliorates the ²-thalassemia phenotype. | 1-gen-2008 | Uda, M; Galanello, R; Sanna, S; Lettre, G; G Sankaran, V; Usala, G; Busonero, F; Maschio, A; Lai, S; Crisponi, L; Naitza, S; Asunis, I; Deiana, M; Marongiu, M; Porcu, L; Lovicu, M; Nagaraja, R; Perseu, L; Satta, S; Moi, P; H Orkin, S; Al, Et | |
| 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 | |
| Common variants at ten loci modulate the QT interval duration in the QTSCD Study | 1-gen-2009 | Arne Pfeufer,,; Serena Sanna,; Dan E Arking,; Martina Muller; Vesela Gateva;Christian Fuchsberger; Georg B Ehret; Marco Orru ; Cristian Pattaro; Anna Kottgen; Siegfried Perz;Gianluca Usala; Maja Barbalic; Man Li; Benno Putz; Angelo Scuteri; Ronald J Prineas;Moritz F Sinner; Christian Gieger; Samer S Najjar; W H Linda Kao; Thomas W Muhleisen,;Mariano Dei; Christine Happle,; Stefan Mohlenkamp; Laura Crisponi; Raimund Erbel;KarlHeinz Jockel; Silvia Naitza; Gerhard Steinbeck; Fabio Marroni; Andrew A Hicks; Edward Lakatta; Bertram MullerMyhsok; Peter P Pramstaller,,; HErich Wichmann,; David Schlessinger; Eric Boerwinkle; Thomas Meitinger,; Manuela Uda; Josef Coresh,; Stefan Kaab; Goncalo R Abecasis; Aravinda Chakravarti,. | |
| Common variants in the GDF5-BFZB region are associated with variation in human height. | 1-gen-2008 | Sanna, Serena; U Jackson, Anne; Nagaraja, Ramaiah; J Willer, Cristen; Chen, Weimin; L Bonnycastle, Lori; Shen, Haiqing; Timpson, Nicholas; Lettre, Guillaume; Usala, Gianluca; S Chines, Peter; M Stringham, Heather; Dei, Mariano; Lai, Sandra; Albai, Giuseppe; Crisponi, Laura; Naitza, Silvia; F Doheny, Kimberly; W Pugh, Elizabeth; Benshlomo, Yoav; Ebrahim, Shah; A Lawlor, Debbie; N Bergman, Richard; M Watanabe, Richard; Uda, Manuela; Tuomilehto, Jaakko; Coresh, Josef; N Hirschhorn, Joel; R Shuldiner, Alan; Schlessinger, David; S Collins, Francis; Davey Smith, George; Boerwinkle, Eric; Cao, Antonio; Boehnke, Michael; R Abecasis, Gonçalo; L Mohlke, Karen | |
| Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia | 1-gen-2009 | Sanna, Serena; Busonero, Fabio; Maschio, Andrea; F McArdle, Patrick; Usala, Gianluca; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Piras, MARIA GRAZIA; Perseu, Lucia; Masala, Marco; Marongiu, Mara; Crisponi, Laura; Naitza, Silvia; Galanello, Renzo; R Abecasis, Gonçalo; R Shuldiner, Alan; Schlessinger, David; Cao, Antonio; Uda, Manuela | |
| 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 Syndrome and Cold-Induced Sweating Type 1: Two Syndromes - One Genetic Entity | 1-gen-2007 | L. Crisponi; A. Meloni; M. Marongiu; F. Chiappe; M. Deiana; L. Marcia; G. Zampino; P. Nürnberg; G. Crisponi; F. Rutsch. | |
| Crisponi Syndrome and Cold-induced Sweating Type 1: two syndromes, but one genetic entity | 1-gen-2008 | Laura Crisponi; Alessandra Meloni; Mara Marongiu; Francesca Chiappe; Manila Deiana; Giuseppe Zampino; Peter Nürnberg; Giangiorgio Crisponi; Frank Rutsch. | |
| Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus. | 1-gen-2008 | Thomas, N; Danda, S; Kumar, M; Jana, Ak; Crisponi, G; Meloni, A; Crisponi, L | |
| Crisponi Syndrome is Caused by Mutations in the CRLF1 Gene and is Allelic to Cold-Induced Sweating Syndrome 1 | 1-gen-2007 | Crisponi L.; Crisponi G.; Meloni A.; Toliat M.R.; Nürnberg G.; Usala G.; Uda M.; Masala M.; Höhne W.; Becker C.; Marongiu M.; Chiappe F.; Kleta R.; Rauch A.; Wollnik B.; Strasser F.; Reese T.; Jakobs C.; Kurlemann G.; Cao A.; Nürnberg P.; Rutsch F | |
| Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1 | 1-gen-2007 | Crisponi, Laura; Crisponi, Giangiorgio; Meloni, Alessandra; Reza Toliat, Mohammad; Nürnberg, Gudrun; Usala, Gianluca; Uda, Manuela; Masala, Marco; Höhne, Wolfgang; Becker, Christian; Marongiu, Mara; Chiappe, Francesca; Kleta, Robert; Rauch, Anita; Wollnik, Bernd; Strasser, Friedrich; Reese, Thomas; Jakobs, Cornelis; Kurlemann, Gerd; Cao, Antonio; Nürnberg, Peter; Rutsch, Frank | |
| Crisponi Syndrome is Caused by Mutations in the CRLF1 Gene and Shows Allelism to Cold-Induced Sweating Syndrome Type 1 | 1-gen-2007 | Rutsch, F; Crisponi, L; Meloni, A; R Toliat, M; Nürnberg, G; Usala, G; Uda, M; Masala, M; Höhne, W; Becker, C; Marongiu, M; Chiappe, F; Kleta, R; Rauch, A; Wollnik, B; Strasser, F; Reese, T; Jakobs, C; Kurlemann, G; Cao, A; Nürnberg, P; Crisponi, G | |
| Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line | 1-gen-2020 | Buers, Insa; Schoening, Lara; Loges Niki, Tomas; Nitschke, Yvonne; Hoeben Inga, Marlena; Roepke, Albrecht; Crisponi, Laura; Omran, Heymut; Rutsch, Frank |