CRISPONI, LAURA
CRISPONI, LAURA
Istituto di Ricerca Genetica e Biomedica - IRGB
GenIA, the Genetic Immunology Advisor database for inborn errors of immunity
2023 Caballerooteyza, Andrés; Crisponi, Laura; P Peng, Xiao; Yauy, Kevin; Volpi, Stefano; Giardino, Stefano; F Freeman, Alexandra; Grimbacher, Bodo; Proietti, Michele
CRLF1 and CLCF1 in Development, Health and Disease.
2022 Crisponi L; Buers I; Rutsch F.
Editorial: Female Infertility: Genetics of Reproductive Ageing, Menopause and Primary Ovarian Insufficiency
2022 Marongiu, Mara; Crisponi, Laura; Uda, Manuela; Pelosi, Emanuele
Hodgkin Lymphoma after Disseminated Mycobacterium genavense Infection, Germany
2022 Janina Trauth; Thomas Discher; Moritz Fritzenwanker; Can Imirzalioglu; Tobias Arnold; Dagmar Steiner; Elvira Richter; Laura Crisponi; Bodo Grimbacher; Susanne Herold
Genetic insights into biological mechanisms governing human ovarian ageing
2021 Ruth, Ks; Day, Fr; Hussain, J; Martinezmarchal, A; Aiken, Ce; Azad, A; Thompson, Dj; Knoblochova, L; Abe, H; Tarryadkins, Jl; Gonzalez, Jm; Fontanillas, P; Claringbould, A; Bakker, Ob; Sulem, P; Walters, Rg; Terao, C; Turon, S; Horikoshi, M; Lin, K; Onlandmoret, Nc; Sankar, A; Hertz, Ept; Timshel, Pn; Shukla, V; Borup, R; Olsen, Kw; Aguilera, P; Ferrerroda, M; Huang, Y; Stankovic, S; Timmers, Prhj; Ahearn, Tu; Alizadeh, Bz; Naderi, E; Andrulis, Il; Arnold, Am; Aronson, Kj; Augustinsson, A; Bandinelli, S; Barbieri, Cm; Beaumont, Rn; Becher, H; Beckmann, Mw; Benonisdottir, S; Bergmann, S; Bochud, M; Boerwinkle, E; Bojesen, Se; Bolla, Mk; Boomsma, Di; Bowker, N; Brody, Ja; Broer, L; Buring, Je; Campbell, A; Campbell, H; Castelao, Je; Catamo, E; Chanock, Sj; Chenevixtrench, G; Ciullo, M; Corre, T; Couch, Fj; Cox, A; Crisponi, L; Cross, Ss; Cucca, F; Czene, K; Smith, Gd; de Geus, Ejcn; de Mutsert, R; De Vivo, I; Demerath, Ew; Dennis, J; Dunning, Am; Dwek, M; Eriksson, M; Esko, T; Fasching, Pa; Faul, Jd; Ferrucci, L; Franceschini, N; Frayling, Tm; Gagodominguez, M; Mezzavilla, M; Garciaclosas, M; Gieger, C; Giles, Gg; Grallert, H; Gudbjartsson, Df; Gudnason, V; Guenel, P; Haiman, Ca; Hakansson, N; Hall, P; Hayward, C; He, C; He, W; Heiss, G; Hoffding, Mk; Hopper, Jl; Hottenga, Jj; Hu, F; Hunter, D; Ikram, Ma; Jackson, Rd; Joaquim, Mdr; John, Em; Joshi, Pk; Karasik, D; Kardia, Slr; Kartsonaki, C; Karlsson, R; Kitahara, Cm; Kolcic, I; Kooperberg, C; Kraft, P; Kurian, Aw; Kutalik, Z; La Bianca, M; Lachance, G; Langenberg, C; Launer, Lj; Laven, Jse; Lawlor, Da; Le Marchand, L; Li, J; Lindblom, A; Lindstrom, S; Lindstrom, T; Linet, M; Liu, Ym; Liu, S; Luan, J; Magi, R; Magnusson, Pke; Mangino, M; Mannermaa, A; Marco, B; Marten, J; Martin, Ng; Mbarek, H; Mcknight, B; Medland, Se; Meisinger, C; Meitinger, T; Menni, C; Metspalu, A; Milani, L; Milne, Rl; Montgomery, Gw; Mookkanamori, Do; Mulas, A; Mulligan, Am; Murray, A; Nalls, Ma; Newman, A; Noordam, R; Nutile, T; Nyholt, Dr; Olshan, Af; Olsson, H; Painter, Jn; Patel, Av; Pedersen, Nl; Perjakova, N; Peters, A; Peters, U; Pharoah, Pdp; Polasek, O; Porcu, E; Psaty, Bm; Rahman, I; Rennert, G; Rennert, Hs; Ridker, Pm; Ring, Sm; Robino, A; Rose, Lm; Rosendaal, Fr; Rossouw, J; Rudan, I; Rueedi, R; Ruggiero, D; Sala, Cf; Saloustros, E; Sandler, Dp; Sanna, S; Sawyer, Ej; Sarnowski, C; Schlessinger, D; Schmidt, Mk; Schoemaker, Mj; Schraut, Ke; Scott, C; Shekari, S; Shrikhande, A; Smith, Av; Smith, Bh; Smith, Ja; Sorice, R; Southey, Mc; Spector, Td; Spinelli, Jj; Stampfer, M; Stockl, D; van Meurs, Jbj; Strauch, K; Styrkarsdottir, U; Swerdlow, Aj; Tanaka, T; Teras, Lr; Teumer, A; Thorsteinsdottir, U; Timpson, Nj; Toniolo, D; Traglia, M; Troester, Ma; Truong, T; Tyrrell, J; Uitterlinden, Ag; Ulivi, S; Vachon, Cm; Vitart, V; Volker, U; Vollenweider, P; Volzke, H; Wang, Q; Wareham, Nj; Weinberg, Cr; Weir, Dr; Wilcox, An; van Dijk, Kw; Willemsen, G; Wilson, Jf; Wolffenbuttel, Bhr; Wolk, A; Wood, Ar; Zhao, W; Zygmunt, M; Chen, Z; L, Li; Franke, L; Burgess, S; Deelen, P; Pers, Th; Grondahl, Ml; Andersen, Cy; Pujol, A; Lopezcontreras, Aj; Daniel, Ja; Stefansson, K; Changclaude, J; van der Schouw, Yt; Lunetta, Kl; Chasman, Di; Easton, Df; Visser, Ja; Ozanne, Se; Namekawa, Sh; Solc, P; Murabito, Jm; Ong, Kk; Hoffmann, Er; Murray, A; Roig, I; Perry, Jrb
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
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
Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual
2020 Schoening, Lara; Loges, Niki Tomas; Nitschke, Yvonne; Hoeben, Inga Marlena; Roepke, Albrecht; Crisponi, Laura; Omran, Heymut; Rutsch, Frank; Buers, Insa
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
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
2017 Day F.R.; Thompson D.J.; Helgason H.; Chasman D.I.; Finucane H.; Sulem P.; Ruth K.S.; Whalen S.; Sarkar A.K.; Albrecht E.; Altmaier E.; Amini M.; Barbieri C.M.; Boutin T.; Campbell A.; Demerath E.; Giri A.; He C.; Hottenga J.J.; Karlsson R.; Kolcic I.; Loh P.R.; Lunetta K.L.; Mangino M.; Marco B.; McMahon G.; Medland S.E.; Nolte I.M.; Noordam R.; Nutile T.; Paternoster L.; Perjakova N.; Porcu E.; Rose L.M.; Schraut K.E.; Segre A.V.; Smith A.V.; Stolk L.; Teumer A.; Andrulis I.L.; Bandinelli S.; Beckmann M.W.; Benitez J.; Bergmann S.; Bochud M.; Boerwinkle E.; Bojesen S.E.; Bolla M.K.; Brand J.S.; Brauch H.; Brenner H.; Broer L.; Bruning T.; Buring J.E.; Campbell H.; Catamo E.; Chanock S.; ChenevixTrench G.; Corre T.; Couch F.J.; Cousminer D.L.; Cox A.; Crisponi L.; Czene K.; Davey Smith G.; De Geus E.J.C.N.; De Mutsert R.; De Vivo I.; Dennis J.; Devilee P.; DosSantosSilva I.; Dunning A.M.; Eriksson J.G.; Fasching P.A.; FernandezRhodes L.; Ferrucci L.; FleschJanys D.; Franke L.; Gabrielson M.; Gandin I.; Giles G.G.; Grallert H.; Gudbjartsson D.F.; Guenel P.; Hall P.; Hallberg E.; Hamann U.; Harris T.B.; Hartman C.A.; Heiss G.; Hooning M.J.; Hopper J.L.; Hu F.; Hunter D.J.; Ikram M.A.; Im H.K.; Jarvelin M.R.; Joshi P.K.; Karasik D.; Kellis M.; Kutalik Z.; Lachance G.; Lambrechts D.; Langenberg C.; Launer L.J.; Laven J.S.E.; Lenarduzzi S.; Li J.; Lind P.A.; Lindstrom S.; Liu Y.; Luan J.; Magi R.; Mannermaa A.; Mbarek H.; McCarthy M.I.; Meisinger C.; Meitinger T.; Menni C.; Metspalu A.; Michailidou K.; Milani L.; Milne R.L.; Montgomery G.W.; Mulligan A.M.; Nalls M.A.; Navarro P.; Nevanlinna H.; Nyholt D.R.; Oldehinkel A.J.; O'Mara T.A.; Padmanabhan S.; Palotie A.; Pedersen N.; Peters A.; Peto J.; Pharoah P.D.P.; Pouta A.; Radice P.; Rahman I.; Ring S.M.; Robino A.; Rosendaal F.R.; Rudan I.; Rueedi R.; Ruggiero D.; Sala C.F.; Schmidt M.K.; Scott R.A.; Shah M.; Sorice R.; Southey M.C.; Sovio U.; Stampfer M.; Steri M.; Strauch K.; Tanaka T.; Tikkanen E.; Timpson N.J.; Traglia M.; Truong T.; Tyrer J.P.; Uitterlinden A.G.; Edwards D.R.V.; Vitart V.; Volker U.; Vollenweider P.; Wang Q.; Widen E.; Van Dijk K.W.; Willemsen G.; Winqvist R.; Wolffenbuttel B.H.R.; Zhao J.H.; Zoledziewska M.; Zygmunt M.; Alizadeh B.Z.; Boomsma D.I.; Ciullo M.; Cucca F.; Esko T.; Franceschini N.; Gieger C.; Gudnason V.; Hayward C.; Kraft P.; Lawlor D.A.; Magnusson P.K.E.; Martin N.G.; MookKanamori D.O.; Nohr E.A.; Polasek O.; Porteous D.; Price A.L.; Ridker P.M.; Snieder H.; Spector T.D.; Stockl D.; Toniolo D.; Ulivi S.; Visser J.A.; Volzke H.; Wareham N.J.; Wilson J.F.; Spurdle A.B.; Thorsteindottir U.; Pollard K.S.; Easton D.F.; Tung J.Y.; ChangClaude J.; Hinds D.; Murray A.; Murabito J.M.; Stefansson K.; Ong K.K.; Perry J.R.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
Novel action of FOXL2 as mediator of Col1a2 gene autoregulation
2016 Marongiu, Mara; Deiana, Manila; Marcia, Loredana; Sbardellati, Andrea; Asunis, Isadora; Meloni, Alessandra; Angius, Andrea; Cusano, Roberto; Loi, Angela; Crobu, Francesca; Fotia, Giorgio; Cucca, Francesco; Schlessinger, David; Crisponi, Laura
FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice
2015 Marongiu, Mara; Marcia, Loredana; Pelosi, Emanuele; Lovicu, Mario; Deiana, Manila; Zhang, Yonqing; Puddu, Alessandro; Loi, Angela; Uda, Manuela; Forabosco, Antonino; Schlessinger, David; Crisponi, Laura
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| GenIA, the Genetic Immunology Advisor database for inborn errors of immunity | 1-gen-2023 | Caballerooteyza, Andrés; Crisponi, Laura; P Peng, Xiao; Yauy, Kevin; Volpi, Stefano; Giardino, Stefano; F Freeman, Alexandra; Grimbacher, Bodo; Proietti, Michele | |
| CRLF1 and CLCF1 in Development, Health and Disease. | 1-gen-2022 | Crisponi L; Buers I; Rutsch F. | |
| Editorial: Female Infertility: Genetics of Reproductive Ageing, Menopause and Primary Ovarian Insufficiency | 1-gen-2022 | Marongiu, Mara; Crisponi, Laura; Uda, Manuela; Pelosi, Emanuele | |
| Hodgkin Lymphoma after Disseminated Mycobacterium genavense Infection, Germany | 1-gen-2022 | Janina Trauth; Thomas Discher; Moritz Fritzenwanker; Can Imirzalioglu; Tobias Arnold; Dagmar Steiner; Elvira Richter; Laura Crisponi; Bodo Grimbacher; Susanne Herold | |
| Genetic insights into biological mechanisms governing human ovarian ageing | 1-gen-2021 | Ruth, Ks; Day, Fr; Hussain, J; Martinezmarchal, A; Aiken, Ce; Azad, A; Thompson, Dj; Knoblochova, L; Abe, H; Tarryadkins, Jl; Gonzalez, Jm; Fontanillas, P; Claringbould, A; Bakker, Ob; Sulem, P; Walters, Rg; Terao, C; Turon, S; Horikoshi, M; Lin, K; Onlandmoret, Nc; Sankar, A; Hertz, Ept; Timshel, Pn; Shukla, V; Borup, R; Olsen, Kw; Aguilera, P; Ferrerroda, M; Huang, Y; Stankovic, S; Timmers, Prhj; Ahearn, Tu; Alizadeh, Bz; Naderi, E; Andrulis, Il; Arnold, Am; Aronson, Kj; Augustinsson, A; Bandinelli, S; Barbieri, Cm; Beaumont, Rn; Becher, H; Beckmann, Mw; Benonisdottir, S; Bergmann, S; Bochud, M; Boerwinkle, E; Bojesen, Se; Bolla, Mk; Boomsma, Di; Bowker, N; Brody, Ja; Broer, L; Buring, Je; Campbell, A; Campbell, H; Castelao, Je; Catamo, E; Chanock, Sj; Chenevixtrench, G; Ciullo, M; Corre, T; Couch, Fj; Cox, A; Crisponi, L; Cross, Ss; Cucca, F; Czene, K; Smith, Gd; de Geus, Ejcn; de Mutsert, R; De Vivo, I; Demerath, Ew; Dennis, J; Dunning, Am; Dwek, M; Eriksson, M; Esko, T; Fasching, Pa; Faul, Jd; Ferrucci, L; Franceschini, N; Frayling, Tm; Gagodominguez, M; Mezzavilla, M; Garciaclosas, M; Gieger, C; Giles, Gg; Grallert, H; Gudbjartsson, Df; Gudnason, V; Guenel, P; Haiman, Ca; Hakansson, N; Hall, P; Hayward, C; He, C; He, W; Heiss, G; Hoffding, Mk; Hopper, Jl; Hottenga, Jj; Hu, F; Hunter, D; Ikram, Ma; Jackson, Rd; Joaquim, Mdr; John, Em; Joshi, Pk; Karasik, D; Kardia, Slr; Kartsonaki, C; Karlsson, R; Kitahara, Cm; Kolcic, I; Kooperberg, C; Kraft, P; Kurian, Aw; Kutalik, Z; La Bianca, M; Lachance, G; Langenberg, C; Launer, Lj; Laven, Jse; Lawlor, Da; Le Marchand, L; Li, J; Lindblom, A; Lindstrom, S; Lindstrom, T; Linet, M; Liu, Ym; Liu, S; Luan, J; Magi, R; Magnusson, Pke; Mangino, M; Mannermaa, A; Marco, B; Marten, J; Martin, Ng; Mbarek, H; Mcknight, B; Medland, Se; Meisinger, C; Meitinger, T; Menni, C; Metspalu, A; Milani, L; Milne, Rl; Montgomery, Gw; Mookkanamori, Do; Mulas, A; Mulligan, Am; Murray, A; Nalls, Ma; Newman, A; Noordam, R; Nutile, T; Nyholt, Dr; Olshan, Af; Olsson, H; Painter, Jn; Patel, Av; Pedersen, Nl; Perjakova, N; Peters, A; Peters, U; Pharoah, Pdp; Polasek, O; Porcu, E; Psaty, Bm; Rahman, I; Rennert, G; Rennert, Hs; Ridker, Pm; Ring, Sm; Robino, A; Rose, Lm; Rosendaal, Fr; Rossouw, J; Rudan, I; Rueedi, R; Ruggiero, D; Sala, Cf; Saloustros, E; Sandler, Dp; Sanna, S; Sawyer, Ej; Sarnowski, C; Schlessinger, D; Schmidt, Mk; Schoemaker, Mj; Schraut, Ke; Scott, C; Shekari, S; Shrikhande, A; Smith, Av; Smith, Bh; Smith, Ja; Sorice, R; Southey, Mc; Spector, Td; Spinelli, Jj; Stampfer, M; Stockl, D; van Meurs, Jbj; Strauch, K; Styrkarsdottir, U; Swerdlow, Aj; Tanaka, T; Teras, Lr; Teumer, A; Thorsteinsdottir, U; Timpson, Nj; Toniolo, D; Traglia, M; Troester, Ma; Truong, T; Tyrrell, J; Uitterlinden, Ag; Ulivi, S; Vachon, Cm; Vitart, V; Volker, U; Vollenweider, P; Volzke, H; Wang, Q; Wareham, Nj; Weinberg, Cr; Weir, Dr; Wilcox, An; van Dijk, Kw; Willemsen, G; Wilson, Jf; Wolffenbuttel, Bhr; Wolk, A; Wood, Ar; Zhao, W; Zygmunt, M; Chen, Z; L, Li; Franke, L; Burgess, S; Deelen, P; Pers, Th; Grondahl, Ml; Andersen, Cy; Pujol, A; Lopezcontreras, Aj; Daniel, Ja; Stefansson, K; Changclaude, J; van der Schouw, Yt; Lunetta, Kl; Chasman, Di; Easton, Df; Visser, Ja; Ozanne, Se; Namekawa, Sh; Solc, P; Murabito, Jm; Ong, Kk; Hoffmann, Er; Murray, A; Roig, I; Perry, Jrb | |
| 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 | |
| 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 | |
| Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual | 1-gen-2020 | Schoening, Lara; Loges, Niki Tomas; Nitschke, Yvonne; Hoeben, Inga Marlena; Roepke, Albrecht; Crisponi, Laura; Omran, Heymut; Rutsch, Frank; Buers, Insa | |
| 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 | |
| Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk | 1-gen-2017 | Day F.R.; Thompson D.J.; Helgason H.; Chasman D.I.; Finucane H.; Sulem P.; Ruth K.S.; Whalen S.; Sarkar A.K.; Albrecht E.; Altmaier E.; Amini M.; Barbieri C.M.; Boutin T.; Campbell A.; Demerath E.; Giri A.; He C.; Hottenga J.J.; Karlsson R.; Kolcic I.; Loh P.R.; Lunetta K.L.; Mangino M.; Marco B.; McMahon G.; Medland S.E.; Nolte I.M.; Noordam R.; Nutile T.; Paternoster L.; Perjakova N.; Porcu E.; Rose L.M.; Schraut K.E.; Segre A.V.; Smith A.V.; Stolk L.; Teumer A.; Andrulis I.L.; Bandinelli S.; Beckmann M.W.; Benitez J.; Bergmann S.; Bochud M.; Boerwinkle E.; Bojesen S.E.; Bolla M.K.; Brand J.S.; Brauch H.; Brenner H.; Broer L.; Bruning T.; Buring J.E.; Campbell H.; Catamo E.; Chanock S.; ChenevixTrench G.; Corre T.; Couch F.J.; Cousminer D.L.; Cox A.; Crisponi L.; Czene K.; Davey Smith G.; De Geus E.J.C.N.; De Mutsert R.; De Vivo I.; Dennis J.; Devilee P.; DosSantosSilva I.; Dunning A.M.; Eriksson J.G.; Fasching P.A.; FernandezRhodes L.; Ferrucci L.; FleschJanys D.; Franke L.; Gabrielson M.; Gandin I.; Giles G.G.; Grallert H.; Gudbjartsson D.F.; Guenel P.; Hall P.; Hallberg E.; Hamann U.; Harris T.B.; Hartman C.A.; Heiss G.; Hooning M.J.; Hopper J.L.; Hu F.; Hunter D.J.; Ikram M.A.; Im H.K.; Jarvelin M.R.; Joshi P.K.; Karasik D.; Kellis M.; Kutalik Z.; Lachance G.; Lambrechts D.; Langenberg C.; Launer L.J.; Laven J.S.E.; Lenarduzzi S.; Li J.; Lind P.A.; Lindstrom S.; Liu Y.; Luan J.; Magi R.; Mannermaa A.; Mbarek H.; McCarthy M.I.; Meisinger C.; Meitinger T.; Menni C.; Metspalu A.; Michailidou K.; Milani L.; Milne R.L.; Montgomery G.W.; Mulligan A.M.; Nalls M.A.; Navarro P.; Nevanlinna H.; Nyholt D.R.; Oldehinkel A.J.; O'Mara T.A.; Padmanabhan S.; Palotie A.; Pedersen N.; Peters A.; Peto J.; Pharoah P.D.P.; Pouta A.; Radice P.; Rahman I.; Ring S.M.; Robino A.; Rosendaal F.R.; Rudan I.; Rueedi R.; Ruggiero D.; Sala C.F.; Schmidt M.K.; Scott R.A.; Shah M.; Sorice R.; Southey M.C.; Sovio U.; Stampfer M.; Steri M.; Strauch K.; Tanaka T.; Tikkanen E.; Timpson N.J.; Traglia M.; Truong T.; Tyrer J.P.; Uitterlinden A.G.; Edwards D.R.V.; Vitart V.; Volker U.; Vollenweider P.; Wang Q.; Widen E.; Van Dijk K.W.; Willemsen G.; Winqvist R.; Wolffenbuttel B.H.R.; Zhao J.H.; Zoledziewska M.; Zygmunt M.; Alizadeh B.Z.; Boomsma D.I.; Ciullo M.; Cucca F.; Esko T.; Franceschini N.; Gieger C.; Gudnason V.; Hayward C.; Kraft P.; Lawlor D.A.; Magnusson P.K.E.; Martin N.G.; MookKanamori D.O.; Nohr E.A.; Polasek O.; Porteous D.; Price A.L.; Ridker P.M.; Snieder H.; Spector T.D.; Stockl D.; Toniolo D.; Ulivi S.; Visser J.A.; Volzke H.; Wareham N.J.; Wilson J.F.; Spurdle A.B.; Thorsteindottir U.; Pollard K.S.; Easton D.F.; Tung J.Y.; ChangClaude J.; Hinds D.; Murray A.; Murabito J.M.; Stefansson K.; Ong K.K.; Perry J.R.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 | |
| Novel action of FOXL2 as mediator of Col1a2 gene autoregulation | 1-gen-2016 | Marongiu, Mara; Deiana, Manila; Marcia, Loredana; Sbardellati, Andrea; Asunis, Isadora; Meloni, Alessandra; Angius, Andrea; Cusano, Roberto; Loi, Angela; Crobu, Francesca; Fotia, Giorgio; Cucca, Francesco; Schlessinger, David; Crisponi, Laura | |
| FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice | 1-gen-2015 | Marongiu, Mara; Marcia, Loredana; Pelosi, Emanuele; Lovicu, Mario; Deiana, Manila; Zhang, Yonqing; Puddu, Alessandro; Loi, Angela; Uda, Manuela; Forabosco, Antonino; Schlessinger, David; Crisponi, Laura |