CRISPONI, LAURA
CRISPONI, LAURA
Istituto di Ricerca Genetica e Biomedica - IRGB
Correction to: Understanding the genetic complexity of puberty timing across the allele frequency spectrum (Nature Genetics, (2024), 56, 7, (1397-1411), 10.1038/s41588-024-01798-4)
2024 Kentistou, K. A.; Kaisinger, L. R.; Stankovic, S.; Vaudel, M.; Mendes de Oliveira, E.; Messina, A.; Walters, R. G.; Liu, X.; Busch, A. S.; Helgason, H.; Thompson, D. J.; Santoni, F.; Petricek, K. M.; Zouaghi, Y.; Huang-Doran, I.; Gudbjartsson, D. F.; Bratland, E.; Lin, K.; Gardner, E. J.; Zhao, Y.; Jia, R. Y.; Terao, C.; Riggan, M. J.; Bolla, M. K.; Yazdanpanah, M.; Yazdanpanah, N.; Bradfield, J. P.; Broer, L.; Campbell, A.; Chasman, D. I.; Cousminer, D. L.; Franceschini, N.; Franke, L. H.; Girotto, G.; He, C.; Jarvelin, M. -R.; Joshi, P. K.; Kamatani, Y.; Karlsson, R.; Luan, J.; Lunetta, K. L.; Magi, R.; Mangino, M.; Medland, S. E.; Meisinger, C.; Noordam, R.; Nutile, T.; Concas, M. P.; Polasek, O.; Porcu, E.; Ring, S. M.; Sala, C.; Smith, A. V.; Tanaka, T.; van der Most, P. J.; Vitart, V.; Wang, C. A.; Willemsen, G.; Zygmunt, M.; Ahearn, T. U.; Andrulis, I. L.; Anton-Culver, H.; Antoniou, A. C.; Auer, P. L.; Barnes, C. L. K.; Beckmann, M. W.; Berrington de Gonzalez, A.; Bogdanova, N. V.; Bojesen, S. E.; Brenner, H.; Buring, J. E.; Canzian, F.; Chang-Claude, J.; Couch, F. J.; Cox, A.; Crisponi, L.; Czene, K.; Daly, M. B.; Demerath, E. W.; Dennis, J.; Devilee, P.; De Vivo, I.; Dork, T.; Dunning, A. M.; Dwek, M.; Eriksson, J. G.; Fasching, P. A.; Fernandez-Rhodes, L.; Ferreli, L.; Fletcher, O.; Gago-Dominguez, M.; Garcia-Closas, M.; Garcia-Saenz, J. A.; Gonzalez-Neira, A.; Grallert, H.; Guenel, P.; Haiman, C. A.; Hall, P.; Hamann, U.; Hakonarson, H.; Hart, R. J.; Hickey, M.; Hooning, M. J.; Hoppe, R.; Hopper, J. L.; Hottenga, J. -J.; Hu, F. B.; Huebner, H.; Hunter, D. J.; Jernstrom, H.; John, E. M.; Karasik, D.; Khusnutdinova, E. K.; Kristensen, V. N.; Lacey, J. V.; Lambrechts, D.; Launer, L. J.; Lind, P. A.; Lindblom, A.; Magnusson, P. K. E.; Mannermaa, A.; Mccarthy, M. I.; Meitinger, T.; Menni, C.; Michailidou, K.; Millwood, I. Y.; Milne, R. L.; Montgomery, G. W.; Nevanlinna, H.; Nolte, I. M.; Nyholt, D. R.; Obi, N.; O'Brien, K. M.; Offit, K.; Oldehinkel, A. J.; Ostrowski, S. R.; Palotie, A.; Pedersen, O. B.; Peters, A.; Pianigiani, G.; Plaseska-Karanfilska, D.; Pouta, A.; Pozarickij, A.; Radice, P.; Rennert, G.; Rosendaal, F. R.; Ruggiero, D.; Saloustros, E.; Sandler, D. P.; Schipf, S.; Schmidt, C. O.; Schmidt, M. K.; Small, K.; Spedicati, B.; Stampfer, M.; Stone, J.; Tamimi, R. M.; Teras, L. R.; Tikkanen, E.; Turman, C.; Vachon, C. M.; Wang, Q.; Winqvist, R.; Wolk, A.; Zemel, B. S.; Zheng, W.; van Dijk, K. W.; Alizadeh, B. Z.; Bandinelli, S.; Boerwinkle, E.; Boomsma, D. I.; Ciullo, M.; Chenevix-Trench, G.; Cucca, F.; Esko, T.; Gieger, C.; Grant, S. F. A.; Gudnason, V.; Hayward, C.; Kolcic, I.; Kraft, P.; Lawlor, D. A.; Martin, N. G.; Nohr, E. A.; Pedersen, N. L.; Pennell, C. E.; Ridker, P. M.; Robino, A.; Snieder, H.; Sovio, U.; Spector, T. D.; Stockl, D.; Sudlow, C.; Timpson, N. J.; Toniolo, D.; Uitterlinden, A.; Ulivi, S.; Volzke, H.; Wareham, N. J.; Widen, E.; Wilson, J. F.; Winqvis, R.; Pharoah, P. D. P.; Li, L.; Easton, D. F.; Njolstad, P. R.; Sulem, P.; Murabito, J. M.; Murray, A.; Manousaki, D.; Juul, A.; Erikstrup, C.; Stefansson, K.; Horikoshi, M.; Chen, Z.; Farooqi, I. S.; Pitteloud, N.; Johansson, S.; Day, F. R.; Perry, J. R. B.; Ong, K. K.
Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome
2024 Onesimo, R.; Sforza, E.; Palermo, F.; Giorgio, V.; Leoni, C.; Rigante, D.; Trevisan, V.; Agazzi, C.; Limongelli, D.; Proli, F.; Kuczynska, E. M.; Crisponi, L.; Crisponi, G.; Zampino, G.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
2024 Haghshenas, Sadegheh; J Bout, Hidde; M Schijns, Josephine; A Levy, Michael; Kerkhof, Jennifer; Bhai, Pratibha; Mcconkey, Haley; A Jenkins, Zandra; M Williams, Ella; J Halliday, Benjamin; A Huisman, Sylvia; Lauffer, Peter; de Waard, Vivian; Witteveen, Laura; Banka, Siddharth; F Brady, Angela; Galazzi, Elena; van Gils, Julien; E Hurst, Anna C; J Kaiser, Frank; Lacombe, Didier; F Martinez-Monseny, Antonio; Fergelot, Patricia; P Monteiro, Fabíola; Parenti, Ilaria; Persani, Luca; Santos-Simarro, Fernando; N Simpson, Brittany; Research Consortium, Mkhk; Alders, Mariëlle; P Robertson, Stephen; Sadikovic, Bekim; A Menke, Leonie; Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Claytonsmith, Jill; Crisponi, Laura; Marı´a Cueto Gonza´lez, Anna; DDD study, The; Devriendt, Koenraad; Dominguez Garrido, Elena; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P. M.; Faivre, Laurence; Fisher, Laura; Floresdaboub, Josue A.; Jenniferfriedman, Alisonfoster; Elisabethgabau, ; Galazzi, Elena; Garcı ´a-Min˜au´r, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Gonzalez Garcia, Aixa; Riddervold Heimdal, Ketil; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovacevic, Maja; (Guus) Lachmeijer, A. M. A.; Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Ward Lichty, Angie; Lin, Ruth; Llano-Rivas, Isabel; Ann Lynch, Sally; Maas, Saskia M.; Maitz, Silvia B.; Mckee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Hildepeeters, Florencepetit; Ivanapersico, Lucapersani; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Peter Rake, Jan; van Ravenswaaij-Arts, Conny M. A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; C Saitta, Sulagna; Sanchez Russo, Rossana; Santen, Gijs W. E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Matttedder, Marcotartaglia; Iantully, Paulienterhal; Marenwenzel, Nienkeverbeek; White, Susanm.; O., Bingxia
OTULIN-related conditions: Report of a new case and review of the literature using GenIA
2024 Caballero-Oteyza, A.; Crisponi, L.; Peng, X. P.; Wang, H.; Mrovecova, P.; Olla, S.; Siguri, C.; Marnissi, F.; Jouhadi, Z.; Aksentijevich, I.; Grimbacher, B.; Proietti, M.
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
2024 Kentistou, Katherine A.; Kaisinger, Lena R.; Stankovic, Stasa; Vaudel, Marc; Mendes de Oliveira, Edson; Messina, Andrea; Walters, Robin G.; Liu, Xiaoxi; Busch, Alexander S.; Helgason, Hannes; Thompson, Deborah J.; Santoni, Federico; Petricek, Konstantin M.; Zouaghi, Yassine; Huang-Doran, Isabel; Gudbjartsson, Daniel F.; Bratland, Eirik; Lin, Kuang; Gardner, Eugene J.; Zhao, Yajie; Jia, Raina Y.; Terao, Chikashi; Riggan, Marjorie J.; Bolla, Manjeet K.; Yazdanpanah, Mojgan; Yazdanpanah, Nahid; Bradfield, Jonathan P.; Broer, Linda; Campbell, Archie; Chasman, Daniel I.; Cousminer, Diana L.; Franceschini, Nora; Franke, Lude H.; Girotto, Giorgia; He, Chunyan; Järvelin, Marjo-Riitta; Joshi, Peter K.; Kamatani, Yoichiro; Karlsson, Robert; Luan, Jian'An; Lunetta, Kathryn L.; Mägi, Reedik; Mangino, Massimo; Medland, Sarah E.; Meisinger, Christa; Noordam, Raymond; Nutile, Teresa; Concas, Maria Pina; Polašek, Ozren; Porcu, Eleonora; Ring, Susan M.; Sala, Cinzia; Smith, Albert V.; Tanaka, Toshiko; van der Most, Peter J.; Vitart, Veronique; Wang, Carol A.; Willemsen, Gonneke; Zygmunt, Marek; Ahearn, Thomas U.; Andrulis, Irene L.; Anton-Culver, Hoda; Antoniou, Antonis C.; Auer, Paul L.; Barnes, Catriona L. K.; Beckmann, Matthias W.; Berrington de Gonzalez, Amy; Bogdanova, Natalia V.; Bojesen, Stig E.; Brenner, Hermann; Buring, Julie E.; Canzian, Federico; Chang-Claude, Jenny; Couch, Fergus J.; Cox, Angela; Crisponi, Laura; Czene, Kamila; Daly, Mary B.; Demerath, Ellen W.; Dennis, Joe; Devilee, Peter; De Vivo, Immaculata; Dörk, Thilo; Dunning, Alison M.; Dwek, Miriam; Eriksson, Johan G.; Fasching, Peter A.; Fernandez-Rhodes, Lindsay; Ferreli, Liana; Fletcher, Olivia; Gago-Dominguez, Manuela; García-Closas, Montserrat; García-Sáenz, José A.; González-Neira, Anna; Grallert, Harald; Guénel, Pascal; Haiman, Christopher A.; Hall, Per; Hamann, Ute; Hakonarson, Hakon; Hart, Roger J.; Hickey, Martha; Hooning, Maartje J.; Hoppe, Reiner; Hopper, John L.; Hottenga, Jouke-Jan; Hu, Frank B.; Huebner, Hanna; Hunter, David J.; Null, Null; Jernström, Helena; John, Esther M.; Karasik, David; Khusnutdinova, Elza K.; Kristensen, Vessela N.; Lacey, James V.; Lambrechts, Diether; Launer, Lenore J.; Lind, Penelope A.; Lindblom, Annika; Magnusson, Patrik K. E.; Mannermaa, Arto; Mccarthy, Mark I.; Meitinger, Thomas; Menni, Cristina; Michailidou, Kyriaki; Millwood, Iona Y.; Milne, Roger L.; Montgomery, Grant W.; Nevanlinna, Heli; Nolte, Ilja M.; Nyholt, Dale R.; Obi, Nadia; O'Brien, Katie M.; Offit, Kenneth; Oldehinkel, Albertine J.; Ostrowski, Sisse R.; Palotie, Aarno; Pedersen, Ole B.; Peters, Annette; Pianigiani, Giulia; Plaseska-Karanfilska, Dijana; Pouta, Anneli; Pozarickij, Alfred; Radice, Paolo; Rennert, Gad; Rosendaal, Frits R.; Ruggiero, Daniela; Saloustros, Emmanouil; Sandler, Dale P.; Schipf, Sabine; Schmidt, Carsten O.; Schmidt, Marjanka K.; Small, Kerrin; Spedicati, Beatrice; Stampfer, Meir; Stone, Jennifer; Tamimi, Rulla M.; Teras, Lauren R.; Tikkanen, Emmi; Turman, Constance; Vachon, Celine M.; Wang, Qin; Winqvist, Robert; Wolk, Alicja; Zemel, Babette S.; Zheng, Wei; van Dijk, Ko W.; Alizadeh, Behrooz Z.; Bandinelli, Stefania; Boerwinkle, Eric; Boomsma, Dorret I.; Ciullo, Marina; Chenevix-Trench, Georgia; Cucca, Francesco; Esko, Tõnu; Gieger, Christian; Grant, Struan F. A.; Gudnason, Vilmundur; Hayward, Caroline; Kolčić, Ivana; Kraft, Peter; Lawlor, Deborah A.; Martin, Nicholas G.; Nøhr, Ellen A.; Pedersen, Nancy L.; Pennell, Craig E.; Ridker, Paul M.; Robino, Antonietta; Snieder, Harold; Sovio, Ulla; Spector, Tim D.; Stöckl, Doris; Sudlow, Cathie; Timpson, Nic J.; Toniolo, Daniela; Uitterlinden, André; Ulivi, Sheila; Völzke, Henry; Wareham, Nicholas J.; Widen, Elisabeth; Wilson, James F.; Null, Null; Null, Null; Null, Null; John, Esther M.; Null, Null; Hall, Per; Winqvis, Robert; Null, Null; Null, Null; Pharoah, Paul D. P.; Li, Liming; Easton, Douglas F.; Njølstad, Pål R.; Sulem, Patrick; Murabito, Joanne M.; Murray, Anna; Manousaki, Despoina; Juul, Anders; Erikstrup, Christian; Stefansson, Kari; Horikoshi, Momoko; Chen, Zhengming; Farooqi, I. Sadaf; Pitteloud, Nelly; Johansson, Stefan; Day, Felix R.; Perry, John R. B.; Ong, Ken K.
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 Trauth, Janina; Discher, Thomas; Fritzenwanker, Moritz; Imirzalioglu, Can; Arnold, Tobias; Steiner, Dagmar; Richter, Elvira; Crisponi, Laura; Grimbacher, Bodo; Herold, Susanne
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Correction to: Understanding the genetic complexity of puberty timing across the allele frequency spectrum (Nature Genetics, (2024), 56, 7, (1397-1411), 10.1038/s41588-024-01798-4) | 1-gen-2024 | Kentistou, K. A.; Kaisinger, L. R.; Stankovic, S.; Vaudel, M.; Mendes de Oliveira, E.; Messina, A.; Walters, R. G.; Liu, X.; Busch, A. S.; Helgason, H.; Thompson, D. J.; Santoni, F.; Petricek, K. M.; Zouaghi, Y.; Huang-Doran, I.; Gudbjartsson, D. F.; Bratland, E.; Lin, K.; Gardner, E. J.; Zhao, Y.; Jia, R. Y.; Terao, C.; Riggan, M. J.; Bolla, M. K.; Yazdanpanah, M.; Yazdanpanah, N.; Bradfield, J. P.; Broer, L.; Campbell, A.; Chasman, D. I.; Cousminer, D. L.; Franceschini, N.; Franke, L. H.; Girotto, G.; He, C.; Jarvelin, M. -R.; Joshi, P. K.; Kamatani, Y.; Karlsson, R.; Luan, J.; Lunetta, K. L.; Magi, R.; Mangino, M.; Medland, S. E.; Meisinger, C.; Noordam, R.; Nutile, T.; Concas, M. P.; Polasek, O.; Porcu, E.; Ring, S. M.; Sala, C.; Smith, A. V.; Tanaka, T.; van der Most, P. J.; Vitart, V.; Wang, C. A.; Willemsen, G.; Zygmunt, M.; Ahearn, T. U.; Andrulis, I. L.; Anton-Culver, H.; Antoniou, A. C.; Auer, P. L.; Barnes, C. L. K.; Beckmann, M. W.; Berrington de Gonzalez, A.; Bogdanova, N. V.; Bojesen, S. E.; Brenner, H.; Buring, J. E.; Canzian, F.; Chang-Claude, J.; Couch, F. J.; Cox, A.; Crisponi, L.; Czene, K.; Daly, M. B.; Demerath, E. W.; Dennis, J.; Devilee, P.; De Vivo, I.; Dork, T.; Dunning, A. M.; Dwek, M.; Eriksson, J. G.; Fasching, P. A.; Fernandez-Rhodes, L.; Ferreli, L.; Fletcher, O.; Gago-Dominguez, M.; Garcia-Closas, M.; Garcia-Saenz, J. A.; Gonzalez-Neira, A.; Grallert, H.; Guenel, P.; Haiman, C. A.; Hall, P.; Hamann, U.; Hakonarson, H.; Hart, R. J.; Hickey, M.; Hooning, M. J.; Hoppe, R.; Hopper, J. L.; Hottenga, J. -J.; Hu, F. B.; Huebner, H.; Hunter, D. J.; Jernstrom, H.; John, E. M.; Karasik, D.; Khusnutdinova, E. K.; Kristensen, V. N.; Lacey, J. V.; Lambrechts, D.; Launer, L. J.; Lind, P. A.; Lindblom, A.; Magnusson, P. K. E.; Mannermaa, A.; Mccarthy, M. I.; Meitinger, T.; Menni, C.; Michailidou, K.; Millwood, I. Y.; Milne, R. L.; Montgomery, G. W.; Nevanlinna, H.; Nolte, I. M.; Nyholt, D. R.; Obi, N.; O'Brien, K. M.; Offit, K.; Oldehinkel, A. J.; Ostrowski, S. R.; Palotie, A.; Pedersen, O. B.; Peters, A.; Pianigiani, G.; Plaseska-Karanfilska, D.; Pouta, A.; Pozarickij, A.; Radice, P.; Rennert, G.; Rosendaal, F. R.; Ruggiero, D.; Saloustros, E.; Sandler, D. P.; Schipf, S.; Schmidt, C. O.; Schmidt, M. K.; Small, K.; Spedicati, B.; Stampfer, M.; Stone, J.; Tamimi, R. M.; Teras, L. R.; Tikkanen, E.; Turman, C.; Vachon, C. M.; Wang, Q.; Winqvist, R.; Wolk, A.; Zemel, B. S.; Zheng, W.; van Dijk, K. W.; Alizadeh, B. Z.; Bandinelli, S.; Boerwinkle, E.; Boomsma, D. I.; Ciullo, M.; Chenevix-Trench, G.; Cucca, F.; Esko, T.; Gieger, C.; Grant, S. F. A.; Gudnason, V.; Hayward, C.; Kolcic, I.; Kraft, P.; Lawlor, D. A.; Martin, N. G.; Nohr, E. A.; Pedersen, N. L.; Pennell, C. E.; Ridker, P. M.; Robino, A.; Snieder, H.; Sovio, U.; Spector, T. D.; Stockl, D.; Sudlow, C.; Timpson, N. J.; Toniolo, D.; Uitterlinden, A.; Ulivi, S.; Volzke, H.; Wareham, N. J.; Widen, E.; Wilson, J. F.; Winqvis, R.; Pharoah, P. D. P.; Li, L.; Easton, D. F.; Njolstad, P. R.; Sulem, P.; Murabito, J. M.; Murray, A.; Manousaki, D.; Juul, A.; Erikstrup, C.; Stefansson, K.; Horikoshi, M.; Chen, Z.; Farooqi, I. S.; Pitteloud, N.; Johansson, S.; Day, F. R.; Perry, J. R. B.; Ong, K. K. | |
| Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome | 1-gen-2024 | Onesimo, R.; Sforza, E.; Palermo, F.; Giorgio, V.; Leoni, C.; Rigante, D.; Trevisan, V.; Agazzi, C.; Limongelli, D.; Proli, F.; Kuczynska, E. M.; Crisponi, L.; Crisponi, G.; Zampino, G. | |
| Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles | 1-gen-2024 | Haghshenas, Sadegheh; J Bout, Hidde; M Schijns, Josephine; A Levy, Michael; Kerkhof, Jennifer; Bhai, Pratibha; Mcconkey, Haley; A Jenkins, Zandra; M Williams, Ella; J Halliday, Benjamin; A Huisman, Sylvia; Lauffer, Peter; de Waard, Vivian; Witteveen, Laura; Banka, Siddharth; F Brady, Angela; Galazzi, Elena; van Gils, Julien; E Hurst, Anna C; J Kaiser, Frank; Lacombe, Didier; F Martinez-Monseny, Antonio; Fergelot, Patricia; P Monteiro, Fabíola; Parenti, Ilaria; Persani, Luca; Santos-Simarro, Fernando; N Simpson, Brittany; Research Consortium, Mkhk; Alders, Mariëlle; P Robertson, Stephen; Sadikovic, Bekim; A Menke, Leonie; Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Claytonsmith, Jill; Crisponi, Laura; Marı´a Cueto Gonza´lez, Anna; DDD study, The; Devriendt, Koenraad; Dominguez Garrido, Elena; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P. M.; Faivre, Laurence; Fisher, Laura; Floresdaboub, Josue A.; Jenniferfriedman, Alisonfoster; Elisabethgabau, ; Galazzi, Elena; Garcı ´a-Min˜au´r, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Gonzalez Garcia, Aixa; Riddervold Heimdal, Ketil; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovacevic, Maja; (Guus) Lachmeijer, A. M. A.; Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Ward Lichty, Angie; Lin, Ruth; Llano-Rivas, Isabel; Ann Lynch, Sally; Maas, Saskia M.; Maitz, Silvia B.; Mckee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Hildepeeters, Florencepetit; Ivanapersico, Lucapersani; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Peter Rake, Jan; van Ravenswaaij-Arts, Conny M. A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; C Saitta, Sulagna; Sanchez Russo, Rossana; Santen, Gijs W. E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Matttedder, Marcotartaglia; Iantully, Paulienterhal; Marenwenzel, Nienkeverbeek; White, Susanm.; O., Bingxia | |
| OTULIN-related conditions: Report of a new case and review of the literature using GenIA | 1-gen-2024 | Caballero-Oteyza, A.; Crisponi, L.; Peng, X. P.; Wang, H.; Mrovecova, P.; Olla, S.; Siguri, C.; Marnissi, F.; Jouhadi, Z.; Aksentijevich, I.; Grimbacher, B.; Proietti, M. | |
| Understanding the genetic complexity of puberty timing across the allele frequency spectrum | 1-gen-2024 | Kentistou, Katherine A.; Kaisinger, Lena R.; Stankovic, Stasa; Vaudel, Marc; Mendes de Oliveira, Edson; Messina, Andrea; Walters, Robin G.; Liu, Xiaoxi; Busch, Alexander S.; Helgason, Hannes; Thompson, Deborah J.; Santoni, Federico; Petricek, Konstantin M.; Zouaghi, Yassine; Huang-Doran, Isabel; Gudbjartsson, Daniel F.; Bratland, Eirik; Lin, Kuang; Gardner, Eugene J.; Zhao, Yajie; Jia, Raina Y.; Terao, Chikashi; Riggan, Marjorie J.; Bolla, Manjeet K.; Yazdanpanah, Mojgan; Yazdanpanah, Nahid; Bradfield, Jonathan P.; Broer, Linda; Campbell, Archie; Chasman, Daniel I.; Cousminer, Diana L.; Franceschini, Nora; Franke, Lude H.; Girotto, Giorgia; He, Chunyan; Järvelin, Marjo-Riitta; Joshi, Peter K.; Kamatani, Yoichiro; Karlsson, Robert; Luan, Jian'An; Lunetta, Kathryn L.; Mägi, Reedik; Mangino, Massimo; Medland, Sarah E.; Meisinger, Christa; Noordam, Raymond; Nutile, Teresa; Concas, Maria Pina; Polašek, Ozren; Porcu, Eleonora; Ring, Susan M.; Sala, Cinzia; Smith, Albert V.; Tanaka, Toshiko; van der Most, Peter J.; Vitart, Veronique; Wang, Carol A.; Willemsen, Gonneke; Zygmunt, Marek; Ahearn, Thomas U.; Andrulis, Irene L.; Anton-Culver, Hoda; Antoniou, Antonis C.; Auer, Paul L.; Barnes, Catriona L. K.; Beckmann, Matthias W.; Berrington de Gonzalez, Amy; Bogdanova, Natalia V.; Bojesen, Stig E.; Brenner, Hermann; Buring, Julie E.; Canzian, Federico; Chang-Claude, Jenny; Couch, Fergus J.; Cox, Angela; Crisponi, Laura; Czene, Kamila; Daly, Mary B.; Demerath, Ellen W.; Dennis, Joe; Devilee, Peter; De Vivo, Immaculata; Dörk, Thilo; Dunning, Alison M.; Dwek, Miriam; Eriksson, Johan G.; Fasching, Peter A.; Fernandez-Rhodes, Lindsay; Ferreli, Liana; Fletcher, Olivia; Gago-Dominguez, Manuela; García-Closas, Montserrat; García-Sáenz, José A.; González-Neira, Anna; Grallert, Harald; Guénel, Pascal; Haiman, Christopher A.; Hall, Per; Hamann, Ute; Hakonarson, Hakon; Hart, Roger J.; Hickey, Martha; Hooning, Maartje J.; Hoppe, Reiner; Hopper, John L.; Hottenga, Jouke-Jan; Hu, Frank B.; Huebner, Hanna; Hunter, David J.; Null, Null; Jernström, Helena; John, Esther M.; Karasik, David; Khusnutdinova, Elza K.; Kristensen, Vessela N.; Lacey, James V.; Lambrechts, Diether; Launer, Lenore J.; Lind, Penelope A.; Lindblom, Annika; Magnusson, Patrik K. E.; Mannermaa, Arto; Mccarthy, Mark I.; Meitinger, Thomas; Menni, Cristina; Michailidou, Kyriaki; Millwood, Iona Y.; Milne, Roger L.; Montgomery, Grant W.; Nevanlinna, Heli; Nolte, Ilja M.; Nyholt, Dale R.; Obi, Nadia; O'Brien, Katie M.; Offit, Kenneth; Oldehinkel, Albertine J.; Ostrowski, Sisse R.; Palotie, Aarno; Pedersen, Ole B.; Peters, Annette; Pianigiani, Giulia; Plaseska-Karanfilska, Dijana; Pouta, Anneli; Pozarickij, Alfred; Radice, Paolo; Rennert, Gad; Rosendaal, Frits R.; Ruggiero, Daniela; Saloustros, Emmanouil; Sandler, Dale P.; Schipf, Sabine; Schmidt, Carsten O.; Schmidt, Marjanka K.; Small, Kerrin; Spedicati, Beatrice; Stampfer, Meir; Stone, Jennifer; Tamimi, Rulla M.; Teras, Lauren R.; Tikkanen, Emmi; Turman, Constance; Vachon, Celine M.; Wang, Qin; Winqvist, Robert; Wolk, Alicja; Zemel, Babette S.; Zheng, Wei; van Dijk, Ko W.; Alizadeh, Behrooz Z.; Bandinelli, Stefania; Boerwinkle, Eric; Boomsma, Dorret I.; Ciullo, Marina; Chenevix-Trench, Georgia; Cucca, Francesco; Esko, Tõnu; Gieger, Christian; Grant, Struan F. A.; Gudnason, Vilmundur; Hayward, Caroline; Kolčić, Ivana; Kraft, Peter; Lawlor, Deborah A.; Martin, Nicholas G.; Nøhr, Ellen A.; Pedersen, Nancy L.; Pennell, Craig E.; Ridker, Paul M.; Robino, Antonietta; Snieder, Harold; Sovio, Ulla; Spector, Tim D.; Stöckl, Doris; Sudlow, Cathie; Timpson, Nic J.; Toniolo, Daniela; Uitterlinden, André; Ulivi, Sheila; Völzke, Henry; Wareham, Nicholas J.; Widen, Elisabeth; Wilson, James F.; Null, Null; Null, Null; Null, Null; John, Esther M.; Null, Null; Hall, Per; Winqvis, Robert; Null, Null; Null, Null; Pharoah, Paul D. P.; Li, Liming; Easton, Douglas F.; Njølstad, Pål R.; Sulem, Patrick; Murabito, Joanne M.; Murray, Anna; Manousaki, Despoina; Juul, Anders; Erikstrup, Christian; Stefansson, Kari; Horikoshi, Momoko; Chen, Zhengming; Farooqi, I. Sadaf; Pitteloud, Nelly; Johansson, Stefan; Day, Felix R.; Perry, John R. B.; Ong, Ken K. | |
| 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 | Trauth, Janina; Discher, Thomas; Fritzenwanker, Moritz; Imirzalioglu, Can; Arnold, Tobias; Steiner, Dagmar; Richter, Elvira; Crisponi, Laura; Grimbacher, Bodo; Herold, Susanne | |
| 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 |