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.
Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome
2024 Onesimo, Roberta; Sforza, Elisabetta; Palermo, Federica; Giorgio, Valentina; Leoni, Chiara; Rigante, Donato; Trevisan, Valentina; Agazzi, Cristiana; Limongelli, Domenico; Proli, Francesco; Kuczynska, Eliza Maria; Crisponi, Laura; Crisponi, Giangiorgio; Zampino, Giuseppe
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
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
| 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. | |
| Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome | 1-gen-2024 | Onesimo, Roberta; Sforza, Elisabetta; Palermo, Federica; Giorgio, Valentina; Leoni, Chiara; Rigante, Donato; Trevisan, Valentina; Agazzi, Cristiana; Limongelli, Domenico; Proli, Francesco; Kuczynska, Eliza Maria; Crisponi, Laura; Crisponi, Giangiorgio; Zampino, Giuseppe | |
| 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 | |
| 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 |