Sfoglia per Autore
A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype
2013-01-01 Occhi, G; Regazzo, D; Trivellin, G; Boaretto, F; Ciato, D; Bobisse, S; Ferasin, S; Cetani, F; Pardi, E; Korbonits, M; Pellegata, Ns; Sidarovich, V; Quattrone, A; Opocher, G; Mantero, F; Scaroni, C
Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (ARMC5) Gene: A Clinical and Genetic Investigation
2014-01-01 Faucz, Fr; Zilbermint, M; Lodish, Mb; Szarek, E; Trivellin, G; Sinaii, N; Berthon, A; Libe, R; Assie, G; Espiard, S; Drougat, L; Ragazzon, B; Bertherat, J; Stratakis, Ca
Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation
2014-01-01 Trivellin, G; Daly, Af; Faucz, Fr; Yuan, B; Rostomyan, L; Larco, Do; Schernthaner-Reiter, Mh; Szarek, E; Leal, Lf; Caberg, Jh; Castermans, E; Villa, C; Dimopoulos, A; Chittiboina, P; Xekouki, P; Shah, N; Metzger, D; Lysy, Pa; Ferrante, E; Strebkova, N; Mazerkina, N; Zatelli, Mc; Lodish, M; Horvath, A; de Alexandre, Rb; Manning, Ad; Levy, I; Keil, Mf; Sierra, Md; Palmeira, L; Coppieters, W; Georges, M; Naves, La; Jamar, M; Bours, V; Wu, Tj; Choong, Cs; Bertherat, J; Chanson, P; Kamenicky, P; Farrell, We; Barlier, A; Quezado, M; Bjelobaba, I; Stojilkovic, Ss; Wess, J; Costanzi, S; Liu, P; Lupski, Jr; Beckers, A; Stratakis, Ca
X-Linked Acro-Gigantism (X-LAG) Due to Microduplications of Chromosome Xq26: A New Disorder and Implications for Acromegaly
2015-01-01 Trivellin, G; Daly, Af; Faucz, Fr; Yuan, B; Rostomyan, L; Larco, Do; Schernthaner-Reiter, Mh; Szarek, E; Leal, Lf; Caberg, Jh; Castermans, E; Villa, C; Dimopoulos, A; Chittiboina, P; Xekouki, P; Shah, Ns; Metzger, D; Lysy, Pa; Ferrante, E; Strebkova, N; Mazerkina, N; Zatelli, Mc; Lodish, M; Horvath, Ad; de Alexandre, Rb; Manning, Ad; Levy, I; Keil, M; Sierra Mde, L; Palmeira, L; Coppieters, W; Georges, M; Naves, La; Cheetham, Td; Barra, Gb; Jamar, M; Bours, V; Wu, Tj; Choong, Cs; Bertherat, J; Chanson, P; Kamenický, P; Farrell, W; Barlier, A; Quezado, M; Bjelobaba, I; Stojilkovic, Ss; Wess, J; Costanzi, S; Liu, P; Lupski, Jf; Beckers, A; Stratakis, Ca
X-linked acro-gigantism (X-LAG): a new form of infant-onset pituitary gigantism
2015-01-01 Trivellin, G; Daly, Af; Faucz, Fr; Yuan, B; Rostomyan, L; Larco DO, ; Bjelobaba, I; Leal, Lf; Schernthaner-Reiter, Mh; Dimopoulos, A; Chittiboina, P; Choong, Cs; Kamenicky, P; Wu, Tj; Costanzi, S; Feldman, B; Stojilkovic, Ss; Lupski, Jr; Beckers, A; Stratakis, Ca
Characterization of GPR101 Expression Across Different Species
2015-01-01 Trivellin, G; Bjelobaba, I; Daly, Af; Thiry, A; Villa, C; Larco, Do; Leal, Lf; Faucz, Fr; Schernthaner-Reiter, Mh; Quezado, M; Farrell, W; Wu, Tj; Stojilkovic, Ss; Feldman, B; Beckers, A; Stratakis, Ca
Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients
2015-01-01 Rostomyan, L; Daly, Af; Petrossians, P; Nachev, E; Lila, Ar; Lecoq, Al; Lecumberri, B; Trivellin, G; Salvatori, R; Moraitis, Ag; Holdaway, I; Kranenburg-van Klaveren, Dj; Zatelli, Mc; Palacios, N; Nozieres, C; Zacharin, M; Ebeling, T; Ojaniemi, M; Rozhinskaya, L; Verrua, E; Jaffrain-Rea, Ml; Filipponi, S; Gusakova, D; Pronin, V; Bertherat, J; Belaya, Z; Ilovayskaya, I; Sahnoun-Fathallah, M; Sievers, C; Stalla, Gk; Castermans, E; Caberg, Jh; Sorkina, E; Auriemma, Rs; Mittal, S; Kareva, M; Lysy, Pa; Emy, P; De Menis, E; Choong, Cs; Mantovani, G; Bours, V; De Herder, W; Brue, T; Barlier, A; Neggers, Sjcmm; Zacharieva, S; Chanson, P; Shah, Ns; Stratakis, Ca; Naves, La; Beckers, A
Is IGSF1 involved in human pituitary tumor formation?
2015-01-01 Faucz, Fr; Horvath, Ad; Azevedo, Mf; Levy, I; Bak, B; Wang, Y; Xekouki, P; Szarek, E; Gourgari, E; Manning, Ad; de Alexandre, Rb; Saloustros, E; Trivellin, G; Lodish, M; Hofman, P; Anderson, Yc; Holdaway, I; Oldfield, E; Chittiboina, P; Nesterova, M; Biermasz, Nr; Wit, Jm; Bernard, Dj; Stratakis, Ca
Regulation of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Protein Expression by MiR-34a in Sporadic Somatotropinomas
2015-01-01 Denes, J; Kasuki, L; Trivellin, G; Colli, Lm; Takiya, Cm; Stiles, Ce; Barry, S; de Castro, M; Gadelha, Mr; Korbonits, M
Gigantism, Acromegaly, and GPR101 Mutations REPLY
2015-01-01 Daly, Af; Trivellin, G; Stratakis, Ca
X-linked acrogigantism syndrome: clinical profile and therapeutic responses
2015-01-01 Beckers, A; Lodish, Mb; Trivellin, G; Rostomyan, L; Lee, M; Faucz, Fr; Yuan, B; Choong, Cs; Caberg, Jh; Verrua, E; Naves, La; Cheetham, Td; Young, J; Lysy, Pa; Petrossians, P; Cotterill, A; Shah, Ns; Metzger, D; Castermans, E; Ambrosio, Mr; Villa, C; Strebkova, N; Mazerkina, N; Gaillard, S; Barra, Gb; Casulari, La; Neggers, Sj; Salvatori, R; Jaffrain-Rea, Ml; Zacharin, M; Santamaria, Bl; Zacharieva, S; Lim, Em; Mantovani, G; Zatelli, Mc; Collins, Mt; Bonneville, Jf; Quezado, M; Chittiboina, P; Oldfield, Eh; Bours, V; Liu, Pf; de Herder, Ww; Pellegata, N; Lupski, Jr; Daly, Af; Stratakis, Ca
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers
2015-01-01 Hernandez-Ramirez, Lc; Gabrovska, P; Denes, J; Stals, K; Trivellin, G; Tilley, D; Ferrau, F; Evanson, J; Ellard, S; Grossman, Ab; Roncaroli, F; Gadelha, Mr; Korbonits, M
Use of G protein-coupled receptor 101 inhibitor, antagonist or inverse agonist for prevention and/or therapeutic treatment of diseases selected from group consisting of acromegaly and gigantism
2016-01-01 Beckers, A; Daly, A F; Faucz, F R; Stratakis, C A; Trivellin, G
Characterization of GPR101: Transcripts Structure, Expression Pattern, and Signal Transduction Pathways
2016-01-01 Trivellin, G; Bjelobaba, I; Daly, Af; Larco, Do; Dupuis, N; Faucz, Fr; Geubelle, P; Thiry, A; Palmeira, L; Wu, Tj; Stojilkovic, Ss; Feldman, B; Hanson, J; Costanzi, S; Beckers, A; Calebiro, D; Stratakis, Ca
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers
2016-01-01 Schernthaner-Reiter, Mh; Adams, D; Trivellin, G; Ramnitz, Ms; Raygada, M; Golas, G; Faucz, Fr; Nilsson, O; Nella, Aa; Dileepan, K; Lodish, M; Lee, P; Tifft, C; Markello, T; Gahl, W; Stratakis, Ca
GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency
2016-01-01 Castinetti, F; Daly, Af; Stratakis, Ca; Caberg, Jh; Castermans, E; Trivellin, G; Rostomyan, L; Saveanu, A; Jullien, N; Reynaud, R; Barlier, A; Bours, V; Brue, T; Beckers, A
Genetics of gigantism and acromegaly
2016-01-01 Hannah-Shmouni, F; Trivellin, G; Stratakis, Ca
Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations
2016-01-01 Hernandez-Ramirez, Lc; Martucci, F; Morgan, Rml; Trivellin, G; Tilley, D; Ramos-Guajardo, N; Iacovazzo, D; D'Acquisto, F; Prodromou, C; Korbonits, M
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study
2016-01-01 Iacovazzo, D; Caswell, R; Bunce, B; Jose, S; Yuan, B; Hernandez-Ramirez, Lc; Kapur, S; Caimari, F; Evanson, J; Ferrau, F; Dang, Mn; Gabrovska, P; Larkin, Sj; Ansorge, O; Rodd, C; Vance, Ml; Ramirez-Renteria, C; Mercado, M; Goldstone, Ap; Buchfelder, M; Burren, Cp; Gurlek, A; Dutta, P; Choong, Cs; Cheetham, T; Trivellin, G; Stratakis, Ca; Lopes, Mb; Grossman, Ab; Trouillas, J; Lupski, Jr; Ellard, S; Sampson, Jr; Roncaroli, F; Korbonits, M
cAMP-specific PDE4 phosphodiesterases and AIP in the pathogenesis of pituitary tumors
2016-01-01 Bolger, Gb; Bizzi, Mf; Pinheiro, Sv; Trivellin, G; Smoot, L; Accavitti, Ma; Korbonits, M; Ribeiro-Oliveira, A
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype | 1-gen-2013 | Occhi, G; Regazzo, D; Trivellin, G; Boaretto, F; Ciato, D; Bobisse, S; Ferasin, S; Cetani, F; Pardi, E; Korbonits, M; Pellegata, Ns; Sidarovich, V; Quattrone, A; Opocher, G; Mantero, F; Scaroni, C | |
Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (ARMC5) Gene: A Clinical and Genetic Investigation | 1-gen-2014 | Faucz, Fr; Zilbermint, M; Lodish, Mb; Szarek, E; Trivellin, G; Sinaii, N; Berthon, A; Libe, R; Assie, G; Espiard, S; Drougat, L; Ragazzon, B; Bertherat, J; Stratakis, Ca | |
Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation | 1-gen-2014 | Trivellin, G; Daly, Af; Faucz, Fr; Yuan, B; Rostomyan, L; Larco, Do; Schernthaner-Reiter, Mh; Szarek, E; Leal, Lf; Caberg, Jh; Castermans, E; Villa, C; Dimopoulos, A; Chittiboina, P; Xekouki, P; Shah, N; Metzger, D; Lysy, Pa; Ferrante, E; Strebkova, N; Mazerkina, N; Zatelli, Mc; Lodish, M; Horvath, A; de Alexandre, Rb; Manning, Ad; Levy, I; Keil, Mf; Sierra, Md; Palmeira, L; Coppieters, W; Georges, M; Naves, La; Jamar, M; Bours, V; Wu, Tj; Choong, Cs; Bertherat, J; Chanson, P; Kamenicky, P; Farrell, We; Barlier, A; Quezado, M; Bjelobaba, I; Stojilkovic, Ss; Wess, J; Costanzi, S; Liu, P; Lupski, Jr; Beckers, A; Stratakis, Ca | |
X-Linked Acro-Gigantism (X-LAG) Due to Microduplications of Chromosome Xq26: A New Disorder and Implications for Acromegaly | 1-gen-2015 | Trivellin, G; Daly, Af; Faucz, Fr; Yuan, B; Rostomyan, L; Larco, Do; Schernthaner-Reiter, Mh; Szarek, E; Leal, Lf; Caberg, Jh; Castermans, E; Villa, C; Dimopoulos, A; Chittiboina, P; Xekouki, P; Shah, Ns; Metzger, D; Lysy, Pa; Ferrante, E; Strebkova, N; Mazerkina, N; Zatelli, Mc; Lodish, M; Horvath, Ad; de Alexandre, Rb; Manning, Ad; Levy, I; Keil, M; Sierra Mde, L; Palmeira, L; Coppieters, W; Georges, M; Naves, La; Cheetham, Td; Barra, Gb; Jamar, M; Bours, V; Wu, Tj; Choong, Cs; Bertherat, J; Chanson, P; Kamenický, P; Farrell, W; Barlier, A; Quezado, M; Bjelobaba, I; Stojilkovic, Ss; Wess, J; Costanzi, S; Liu, P; Lupski, Jf; Beckers, A; Stratakis, Ca | |
X-linked acro-gigantism (X-LAG): a new form of infant-onset pituitary gigantism | 1-gen-2015 | Trivellin, G; Daly, Af; Faucz, Fr; Yuan, B; Rostomyan, L; Larco DO, ; Bjelobaba, I; Leal, Lf; Schernthaner-Reiter, Mh; Dimopoulos, A; Chittiboina, P; Choong, Cs; Kamenicky, P; Wu, Tj; Costanzi, S; Feldman, B; Stojilkovic, Ss; Lupski, Jr; Beckers, A; Stratakis, Ca | |
Characterization of GPR101 Expression Across Different Species | 1-gen-2015 | Trivellin, G; Bjelobaba, I; Daly, Af; Thiry, A; Villa, C; Larco, Do; Leal, Lf; Faucz, Fr; Schernthaner-Reiter, Mh; Quezado, M; Farrell, W; Wu, Tj; Stojilkovic, Ss; Feldman, B; Beckers, A; Stratakis, Ca | |
Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients | 1-gen-2015 | Rostomyan, L; Daly, Af; Petrossians, P; Nachev, E; Lila, Ar; Lecoq, Al; Lecumberri, B; Trivellin, G; Salvatori, R; Moraitis, Ag; Holdaway, I; Kranenburg-van Klaveren, Dj; Zatelli, Mc; Palacios, N; Nozieres, C; Zacharin, M; Ebeling, T; Ojaniemi, M; Rozhinskaya, L; Verrua, E; Jaffrain-Rea, Ml; Filipponi, S; Gusakova, D; Pronin, V; Bertherat, J; Belaya, Z; Ilovayskaya, I; Sahnoun-Fathallah, M; Sievers, C; Stalla, Gk; Castermans, E; Caberg, Jh; Sorkina, E; Auriemma, Rs; Mittal, S; Kareva, M; Lysy, Pa; Emy, P; De Menis, E; Choong, Cs; Mantovani, G; Bours, V; De Herder, W; Brue, T; Barlier, A; Neggers, Sjcmm; Zacharieva, S; Chanson, P; Shah, Ns; Stratakis, Ca; Naves, La; Beckers, A | |
Is IGSF1 involved in human pituitary tumor formation? | 1-gen-2015 | Faucz, Fr; Horvath, Ad; Azevedo, Mf; Levy, I; Bak, B; Wang, Y; Xekouki, P; Szarek, E; Gourgari, E; Manning, Ad; de Alexandre, Rb; Saloustros, E; Trivellin, G; Lodish, M; Hofman, P; Anderson, Yc; Holdaway, I; Oldfield, E; Chittiboina, P; Nesterova, M; Biermasz, Nr; Wit, Jm; Bernard, Dj; Stratakis, Ca | |
Regulation of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Protein Expression by MiR-34a in Sporadic Somatotropinomas | 1-gen-2015 | Denes, J; Kasuki, L; Trivellin, G; Colli, Lm; Takiya, Cm; Stiles, Ce; Barry, S; de Castro, M; Gadelha, Mr; Korbonits, M | |
Gigantism, Acromegaly, and GPR101 Mutations REPLY | 1-gen-2015 | Daly, Af; Trivellin, G; Stratakis, Ca | |
X-linked acrogigantism syndrome: clinical profile and therapeutic responses | 1-gen-2015 | Beckers, A; Lodish, Mb; Trivellin, G; Rostomyan, L; Lee, M; Faucz, Fr; Yuan, B; Choong, Cs; Caberg, Jh; Verrua, E; Naves, La; Cheetham, Td; Young, J; Lysy, Pa; Petrossians, P; Cotterill, A; Shah, Ns; Metzger, D; Castermans, E; Ambrosio, Mr; Villa, C; Strebkova, N; Mazerkina, N; Gaillard, S; Barra, Gb; Casulari, La; Neggers, Sj; Salvatori, R; Jaffrain-Rea, Ml; Zacharin, M; Santamaria, Bl; Zacharieva, S; Lim, Em; Mantovani, G; Zatelli, Mc; Collins, Mt; Bonneville, Jf; Quezado, M; Chittiboina, P; Oldfield, Eh; Bours, V; Liu, Pf; de Herder, Ww; Pellegata, N; Lupski, Jr; Daly, Af; Stratakis, Ca | |
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers | 1-gen-2015 | Hernandez-Ramirez, Lc; Gabrovska, P; Denes, J; Stals, K; Trivellin, G; Tilley, D; Ferrau, F; Evanson, J; Ellard, S; Grossman, Ab; Roncaroli, F; Gadelha, Mr; Korbonits, M | |
Use of G protein-coupled receptor 101 inhibitor, antagonist or inverse agonist for prevention and/or therapeutic treatment of diseases selected from group consisting of acromegaly and gigantism | 1-gen-2016 | Beckers, A; Daly, A F; Faucz, F R; Stratakis, C A; Trivellin, G | |
Characterization of GPR101: Transcripts Structure, Expression Pattern, and Signal Transduction Pathways | 1-gen-2016 | Trivellin, G; Bjelobaba, I; Daly, Af; Larco, Do; Dupuis, N; Faucz, Fr; Geubelle, P; Thiry, A; Palmeira, L; Wu, Tj; Stojilkovic, Ss; Feldman, B; Hanson, J; Costanzi, S; Beckers, A; Calebiro, D; Stratakis, Ca | |
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers | 1-gen-2016 | Schernthaner-Reiter, Mh; Adams, D; Trivellin, G; Ramnitz, Ms; Raygada, M; Golas, G; Faucz, Fr; Nilsson, O; Nella, Aa; Dileepan, K; Lodish, M; Lee, P; Tifft, C; Markello, T; Gahl, W; Stratakis, Ca | |
GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency | 1-gen-2016 | Castinetti, F; Daly, Af; Stratakis, Ca; Caberg, Jh; Castermans, E; Trivellin, G; Rostomyan, L; Saveanu, A; Jullien, N; Reynaud, R; Barlier, A; Bours, V; Brue, T; Beckers, A | |
Genetics of gigantism and acromegaly | 1-gen-2016 | Hannah-Shmouni, F; Trivellin, G; Stratakis, Ca | |
Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations | 1-gen-2016 | Hernandez-Ramirez, Lc; Martucci, F; Morgan, Rml; Trivellin, G; Tilley, D; Ramos-Guajardo, N; Iacovazzo, D; D'Acquisto, F; Prodromou, C; Korbonits, M | |
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study | 1-gen-2016 | Iacovazzo, D; Caswell, R; Bunce, B; Jose, S; Yuan, B; Hernandez-Ramirez, Lc; Kapur, S; Caimari, F; Evanson, J; Ferrau, F; Dang, Mn; Gabrovska, P; Larkin, Sj; Ansorge, O; Rodd, C; Vance, Ml; Ramirez-Renteria, C; Mercado, M; Goldstone, Ap; Buchfelder, M; Burren, Cp; Gurlek, A; Dutta, P; Choong, Cs; Cheetham, T; Trivellin, G; Stratakis, Ca; Lopes, Mb; Grossman, Ab; Trouillas, J; Lupski, Jr; Ellard, S; Sampson, Jr; Roncaroli, F; Korbonits, M | |
cAMP-specific PDE4 phosphodiesterases and AIP in the pathogenesis of pituitary tumors | 1-gen-2016 | Bolger, Gb; Bizzi, Mf; Pinheiro, Sv; Trivellin, G; Smoot, L; Accavitti, Ma; Korbonits, M; Ribeiro-Oliveira, A |
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