Sfoglia per Titolo
Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia.
1996-01-01 Dianzani I; Garelli E; Dompè C; Crescenzio N; Locatelli F; Schilirò G; Castaman G; Bagnara GP; Olivieri NF; Gabutti V; Ramenghi U
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception
2016-01-01 Chiabrando, Deborah; Castori, Marco; di Rocco, Maja; Ungelenk, Martin; Gießelmann, Sebastian; Di Capua, Matteo; Madeo, Annalisa; Grammatico, Paola; Bartsch, Sophie; Hübner, Christian A.; Altruda, Fiorella; Silengo, Lorenzo; Tolosano, Emanuela; Kurth, Ingo
Mutations in the lamin B1 gene are not present in multiple sclerosis
2009-01-01 Brussino A; D'Alfonso S; Cagnoli C; Di Gregorio E; Barberis M; Padovan S; Vaula G; Pinessi L; Squadrone S; Abete MC; Collimedaglia L; Guerini FR; Migone N; Brusco A
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
2014-01-01 J. O. Johnson;E. P. Pioro;A. Boehringer;R. Chia;H. Feit;A. E. Renton;H. A. Pliner;Y. Abramzon;G. Marangi;B. J. Winborn;J. R. Gibbs;M. A. Nalls;S. Morgan;M. Shoai;J. Hardy;A. Pittman;R. W. Orrell;A. Malaspina;K. C. Sidle;P. Fratta;M. B. Harms;R. H. Baloh;A. Pestronk;C. C. Weihl;E. Rogaeva;L. Zinman;V. E. Drory;G. Borghero;G. Mora;A. Calvo;J. D. Rothstein;I. T. A.;C. Drepper;M. Sendtner;A. B. Singleton;J. P. Taylor;M. R. Cookson;G. Restagno;M. Sabatelli;R. Bowser;A. Chiò;B. J. Traynor
Mutations in the met oncogene unveil a 'dual switch' mechanism controlling tyrosine kinase activity.
2003-01-01 F. CHIARA; P. MICHIELI; L. PUGLIESE; PM. COMOGLIO
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
2010-01-01 Di Bella D; Lazzaro F; Brusco A; Plumari M; Battaglia G; Pastore A; Finardi A; Cagnoli C; Tempia F; Frontali M; Veneziano L; Sacco T; Boda E; Brussino A; Bonn F; Castellotti B; Baratta S; Mariotti C; Gellera C; Fracasso V; Magri S; Langer T; Plevani P; Di Donato S; Muzi-Falconi M; Taroni F
Mutations in the nonstructural 5A region of hepatitis C virus and response of chronic hepatitis C to interferon alfa.
1997-01-01 SQUADRITO G; LEONE F; SARTORI M; NALPAS B; BERTHELOT P; RAIMONDO G; POL S; BRECHOT C.
Mutations in the P53 and RAS family genes are associated with tumor progression of BCR/ABL negative chronic myeloproliferative disorders.
1993-01-01 GAIDANO G; A. GUERRASIO; SERRA A; CAROZZI F; CAMBRIN GR; PETRONI D; SAGLIO G
Mutations in the p53 gene in primary human breast cancers.
1991-01-01 Osborne R.J.; Merlo G.; Mitsudomi T.; Venesio T.; Liscia D.S.; Cappa A.P.M.; Chiba I.; Takahashi T.; Nau M.; Callahan R.; Minna J.D.
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy
2008-01-01 CAGNOLI C; BRUSSINO A; DI GREGORIO E; CAROPPO P; STOLA S; DRAGONE E; FERRONE M; PADOVAN S; MIGONE N; ORSI L; BRUSCO A
Mutations in the SmAPRR2 transcription factor suppressing chlorophyll pigmentation in the eggplant fruit peel are key drivers of a diversified colour palette
2022-01-01 Arrones, Andrea; Mangino, Giulio; Alonso, David; Plazas, Mariola; Prohens, Jaime; Portis, Ezio; Barchi, Lorenzo; Giuliano, Giovanni; Vilanova, Santiago; Gramazio, Pietro
Mutations in TMEM230 are not a common cause of Parkinson's disease
2017-01-01 Quadri, Marialuisa; Breedveld, Guido J.; Chang, Hsiu-Chen; Yeh, Tu-Hsueh; Guedes, Leonor Correia; Toni, Vincenzo; Fabrizio, Edito; De Mari, Michele; Thomas, Astrid; Tassorelli, Cristina; Rood, Janneke P. M. A.; Saddi, Valeria; Chien, Hsin Fen; Kievit, Anneke J. A.; Boon, Agnita J. W.; Stocchi, Fabrizio; Lopiano, Leonardo; Abbruzzese, Giovanni; Cortelli, Pietro; Meco, Giuseppe; Cossu, Giovanni; Barbosa, Egberto Reis; Ferreira, Joaquim J.; Chin-Song, Lu; Bonifati, Vincenzo
Mutations in transferrin receptor-2 in hemochromatosis type 3.
2000-01-01 A. Roetto;C. Camaschella;A. Cali;M. De Gobbi;M. Carella;N. Majorano;A. Totaro;P. Gasparini
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
2004-01-01 Kato M; Das S; Petras K; Kitamura K; Morohashi K; Abuelo DN; Barr M; Bonneau D; Brady AF; Carpenter NJ; Cipero KL; Frisone F; Fukuda T; Guerrini R; Iida E; Itoh M; Lewanda AF; Nanba Y; Oka A; Proud VK; Saugier-Veber P; Schelley SL; Selicorni A; Shaner R; Silengo M; Stewart F; Sugiyama N; Toyama J; Toutain A; Vargas AL; Yanazawa M; Zackai EH; Dobyns WB.
Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia.
2012-01-01 Rossi D; Rasi S; Fabbri G; Spina V; Fangazio M; Forconi F; Marasca R; Laurenti L; Bruscaggin A; Cerri M; Monti S; Cresta S; Famà R; De Paoli L; Bulian P; Gattei V; Guarini A; Deaglio S; Capello D; Rabadan R; Pasqualucci L; Dalla-Favera R; Foà R; Gaidano G.
Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.
1997-01-01 SAVINO M; IANZANO L; STRIPPOLI PL; U. RAMENGHI; ARSLANIAN A; BAGNARA GP; JOENJE H; ZELANTE L; SAVOIA A
Mutations of the PML tumor suppressor gene in acute promyelocytic leukemia.
2004-01-01 C. Gurrieri;K. Nafa;T. Merghoub;R. Bernardi;P. Capodieci;A. Biondi;S. Nimer;D. Douer;C. Cordon-Cardo;R. Gallagher;P. P. Pandolfi
Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness.
2011-01-01 Rossi D; Bruscaggin A; Spina V; Rasi S; Khiabanian H; Messina M; Fangazio M; Vaisitti T; Monti S; Chiaretti S; Guarini A; Del Giudice I; Cerri M; Cresta S; Deambrogi C; Gargiulo E; Gattei V; Forconi F; Bertoni F; Deaglio S; Rabadan R; Pasqualucci L; Foà R; Dalla-Favera R; Gaidano G.
MUTAZIONE DI K-RAS E BENEFICI DA CETUXIMAB NEL CANCRO DEL COLON RETTO AVANZATO
2008-01-01 Valentina Boscaro
Una mutazione di splicing con inserzione di uno pseudo-esone in un caso di leucoencefalopatia megalencefalica con cisti subcorticali
2011-01-01 Mancini C; Scalzitti L; Vaula G; Brussino A; Brusco A
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia. | 1996 | Dianzani I; Garelli E; Dompè C; Crescenzio N; Locatelli F; Schilirò G; Castaman G; Bagnara GP; Olivieri NF; Gabutti V; Ramenghi U | |
| Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception | 2016 | Chiabrando, Deborah; Castori, Marco; di Rocco, Maja; Ungelenk, Martin; Gießelmann, Sebastian; Di Capua, Matteo; Madeo, Annalisa; Grammatico, Paola; Bartsch, Sophie; Hübner, Christian A.; Altruda, Fiorella; Silengo, Lorenzo; Tolosano, Emanuela; Kurth, Ingo | |
| Mutations in the lamin B1 gene are not present in multiple sclerosis | 2009 | Brussino A; D'Alfonso S; Cagnoli C; Di Gregorio E; Barberis M; Padovan S; Vaula G; Pinessi L; Squadrone S; Abete MC; Collimedaglia L; Guerini FR; Migone N; Brusco A | |
| Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. | 2014 | J. O. Johnson;E. P. Pioro;A. Boehringer;R. Chia;H. Feit;A. E. Renton;H. A. Pliner;Y. Abramzon;G. Marangi;B. J. Winborn;J. R. Gibbs;M. A. Nalls;S. Morgan;M. Shoai;J. Hardy;A. Pittman;R. W. Orrell;A. Malaspina;K. C. Sidle;P. Fratta;M. B. Harms;R. H. Baloh;A. Pestronk;C. C. Weihl;E. Rogaeva;L. Zinman;V. E. Drory;G. Borghero;G. Mora;A. Calvo;J. D. Rothstein;I. T. A.;C. Drepper;M. Sendtner;A. B. Singleton;J. P. Taylor;M. R. Cookson;G. Restagno;M. Sabatelli;R. Bowser;A. Chiò;B. J. Traynor | |
| Mutations in the met oncogene unveil a 'dual switch' mechanism controlling tyrosine kinase activity. | 2003 | F. CHIARA; P. MICHIELI; L. PUGLIESE; PM. COMOGLIO | |
| Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 | 2010 | Di Bella D; Lazzaro F; Brusco A; Plumari M; Battaglia G; Pastore A; Finardi A; Cagnoli C; Tempia F; Frontali M; Veneziano L; Sacco T; Boda E; Brussino A; Bonn F; Castellotti B; Baratta S; Mariotti C; Gellera C; Fracasso V; Magri S; Langer T; Plevani P; Di Donato S; Muzi-Falconi M; Taroni F | |
| Mutations in the nonstructural 5A region of hepatitis C virus and response of chronic hepatitis C to interferon alfa. | 1997 | SQUADRITO G; LEONE F; SARTORI M; NALPAS B; BERTHELOT P; RAIMONDO G; POL S; BRECHOT C. | |
| Mutations in the P53 and RAS family genes are associated with tumor progression of BCR/ABL negative chronic myeloproliferative disorders. | 1993 | GAIDANO G; A. GUERRASIO; SERRA A; CAROZZI F; CAMBRIN GR; PETRONI D; SAGLIO G | |
| Mutations in the p53 gene in primary human breast cancers. | 1991 | Osborne R.J.; Merlo G.; Mitsudomi T.; Venesio T.; Liscia D.S.; Cappa A.P.M.; Chiba I.; Takahashi T.; Nau M.; Callahan R.; Minna J.D. | |
| Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy | 2008 | CAGNOLI C; BRUSSINO A; DI GREGORIO E; CAROPPO P; STOLA S; DRAGONE E; FERRONE M; PADOVAN S; MIGONE N; ORSI L; BRUSCO A | |
| Mutations in the SmAPRR2 transcription factor suppressing chlorophyll pigmentation in the eggplant fruit peel are key drivers of a diversified colour palette | 2022 | Arrones, Andrea; Mangino, Giulio; Alonso, David; Plazas, Mariola; Prohens, Jaime; Portis, Ezio; Barchi, Lorenzo; Giuliano, Giovanni; Vilanova, Santiago; Gramazio, Pietro | |
| Mutations in TMEM230 are not a common cause of Parkinson's disease | 2017 | Quadri, Marialuisa; Breedveld, Guido J.; Chang, Hsiu-Chen; Yeh, Tu-Hsueh; Guedes, Leonor Correia; Toni, Vincenzo; Fabrizio, Edito; De Mari, Michele; Thomas, Astrid; Tassorelli, Cristina; Rood, Janneke P. M. A.; Saddi, Valeria; Chien, Hsin Fen; Kievit, Anneke J. A.; Boon, Agnita J. W.; Stocchi, Fabrizio; Lopiano, Leonardo; Abbruzzese, Giovanni; Cortelli, Pietro; Meco, Giuseppe; Cossu, Giovanni; Barbosa, Egberto Reis; Ferreira, Joaquim J.; Chin-Song, Lu; Bonifati, Vincenzo | |
| Mutations in transferrin receptor-2 in hemochromatosis type 3. | 2000 | A. Roetto;C. Camaschella;A. Cali;M. De Gobbi;M. Carella;N. Majorano;A. Totaro;P. Gasparini | |
| Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. | 2004 | Kato M; Das S; Petras K; Kitamura K; Morohashi K; Abuelo DN; Barr M; Bonneau D; Brady AF; Carpenter NJ; Cipero KL; Frisone F; Fukuda T; Guerrini R; Iida E; Itoh M; Lewanda AF; Nanba Y; Oka A; Proud VK; Saugier-Veber P; Schelley SL; Selicorni A; Shaner R; Silengo M; Stewart F; Sugiyama N; Toyama J; Toutain A; Vargas AL; Yanazawa M; Zackai EH; Dobyns WB. | |
| Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia. | 2012 | Rossi D; Rasi S; Fabbri G; Spina V; Fangazio M; Forconi F; Marasca R; Laurenti L; Bruscaggin A; Cerri M; Monti S; Cresta S; Famà R; De Paoli L; Bulian P; Gattei V; Guarini A; Deaglio S; Capello D; Rabadan R; Pasqualucci L; Dalla-Favera R; Foà R; Gaidano G. | |
| Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. | 1997 | SAVINO M; IANZANO L; STRIPPOLI PL; U. RAMENGHI; ARSLANIAN A; BAGNARA GP; JOENJE H; ZELANTE L; SAVOIA A | |
| Mutations of the PML tumor suppressor gene in acute promyelocytic leukemia. | 2004 | C. Gurrieri;K. Nafa;T. Merghoub;R. Bernardi;P. Capodieci;A. Biondi;S. Nimer;D. Douer;C. Cordon-Cardo;R. Gallagher;P. P. Pandolfi | |
| Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness. | 2011 | Rossi D; Bruscaggin A; Spina V; Rasi S; Khiabanian H; Messina M; Fangazio M; Vaisitti T; Monti S; Chiaretti S; Guarini A; Del Giudice I; Cerri M; Cresta S; Deambrogi C; Gargiulo E; Gattei V; Forconi F; Bertoni F; Deaglio S; Rabadan R; Pasqualucci L; Foà R; Dalla-Favera R; Gaidano G. | |
| MUTAZIONE DI K-RAS E BENEFICI DA CETUXIMAB NEL CANCRO DEL COLON RETTO AVANZATO | 2008 | Valentina Boscaro | |
| Una mutazione di splicing con inserzione di uno pseudo-esone in un caso di leucoencefalopatia megalencefalica con cisti subcorticali | 2011 | Mancini C; Scalzitti L; Vaula G; Brussino A; Brusco A |
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