Sfoglia per Autore
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.
2009 Graziano C; Carone S; Panza E; Marino F; Magini P; Romeo G; Pession A; Seri M.
Mitochondrial DNA genotyping reveals synchronous nature of simultaneously detected endometrial and ovarian cancers
2011 F. Guerra; I. Kurelac; P. Magini; A. Cormio; D. Santini; C. Ceccarelli; G. Gasparre
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2
2011 Pippucci T;Savoia A;Perrotta S;Pujol-Moix N;Noris P;Castegnaro G;Pecci A;Gnan C;Punzo F;Marconi C;Gherardi S;Loffredo G;De Rocco D;Scianguetta S;Barozzi S;Magini P;Bozzi V;Dezzani L;Di Stazio M;Ferraro M;Perini G;Seri M;Balduini CL
EX-HOM (EXome-HOMozygosity): a proof of principle
2011 Pippucci T.; Benelli M.; Magi A.; Martelli P.L.; Magini P.; Torricelli F.; Casadio R.; Seri M.; Romeo G.
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype.
2011 Wischmeijer A;Magini P;Giorda R;Gnoli M;Ciccone R;Cecconi L;Franzoni E;Mazzanti L;Romeo G;Zuffardi O;Seri M
Two distinct thyroid tumours in a Cowden Syndrome patient carrying both a 10q23 and a mitochondrial DNA germline deletion
2011 Pradella LM; Zuntini R; Magini P; Ceccarelli C; Neri I; Cerasoli S; Graziano C; Gasparre G; Turchetti D
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
2012 Magini P; Monica MD; Uzielli ML; Mongelli P; Scarselli G; Gambineri E; Scarano G; Seri M.
Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved?
2012 Colina M; Pippucci T; Moro MA; Marconi C; Magini P; Ciancio G; Romeo G; Trotta F; Seri M.
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum.
2012 Graziano C; David M; Magini P; Superti-Furga A; Seri M.
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype
2013 Laura Licchetta; Tommaso Pippucci; Francesca Bisulli; Gaetano Cantalupo; Pamela Magini; Lara Alvisi; Sara Baldassari; Paolo Martinelli; Ilaria Naldi; Nicola Vanni; Rocco Liguori; Marco Seri; Paolo Tinuper
EXCAVATOR: detecting copy number variants from whole-exome sequencing data.
2013 Magi A;Tattini L;Cifola I;D'Aurizio R;Benelli M;Mangano E;Battaglia C;Bonora E;Kurg A;Seri M;Magini P;Giusti B;Romeo G;Pippucci T;De Bellis G;Abbate R;Gensini GF
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31.
2014 Bisulli F;Naldi I;Baldassari S;Magini P;Licchetta L;Castegnaro G;Fabbri M;Stipa C;Ferrari S;Seri M;Gonçalves Silva GE;Tinuper P;Pippucci T
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients.
2014 Bonora E;Graziano C;Minopoli F;Bacchelli E;Magini P;Diquigiovanni C;Lomartire S;Bianco F;Vargiolu M;Parchi P;Marasco E;Mantovani V;Rampoldi L;Trudu M;Parmeggiani A;Battaglia A;Mazzone L;Tortora G;Maestrini E;Seri M;Romeo G;IMGSAC
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
2014 Magini P;Pippucci T;Tsai IC;Coppola S;Stellacci E;Bartoletti-Stella A;Turchetti D;Graziano C;Cenacchi G;Neri I;Cordelli DM;Marchiani V;Bergamaschi R;Gasparre G;Neri G;Mazzanti L;Patrizi A;Franzoni E;Romeo G;Bordo D;Tartaglia M;Katsanis N;Seri M
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?
2014 Mucciolo, M; Magini, P; Marozza, A; Mongelli, P; Mencarelli, Ma; Hayek, G; Tavalazzi, F; Mari, F; Seri, M; Renieri, A; Graziano, C.
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF).
2014 Magini P;Bisulli F;Baldassari S;Stipa C;Naldi I;Licchetta L;Menghi V;Tinuper P;Seri M;Pippucci T
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy
2015 T. Pippucci;A. Maresca;P. Magini;G. Cenacchi;V. Donadio;F. Palombo;V. Papa;A. Incensi;G. Gasparre;M. L. Valentino;C. Preziuso;A. Pisano;M. Ragno;R. Liguori;C. Giordano;C. Tonon;R. Lodi;A. Parmeggiani;V. Carelli;M. Seri
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration
2015 Magini, Pamela; Poscente, Monica; Ferrari, Simona; Vargiolu, Manuela; Bacchelli, Elena; Graziano, Claudio; Wischmeijer, Anita; Turchetti, Daniela; Malaspina, Elisabetta; Marchiani, Valentina; Cordelli, Duccio Maria; Franzoni, Emilio; Romeo, Giovanni; Seri, Marco
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
2015 Kuechler, Alma; Zink, Alexander M.; Wieland, Thomas; Lüdecke, Hermann-Josef; Cremer, Kirsten; Salviati, Leonardo; Magini, Pamela; Najafi, Kimia; Zweier, Christiane; Czeschik, Johanna Christina; Aretz, Stefan; Endele, Sabine; Tamburrino, Federica; Pinato, Claudia; Clementi, Maurizio; Gundlach, Jasmin; Maylahn, Carina; Mazzanti, Laura; Wohlleber, Eva; Schwarzmayr, Thomas; Kariminejad, Roxana; Schlessinger, Avner; Wieczorek, Dagmar; Strom, Tim M.; Novarino, Gaia; Engels, Hartmut
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks
2016 Negri, Gloria; Magini, Pamela; Milani, Donatella; Colapietro, Patrizia; Rusconi, Daniela; Scarano, Emanuela; Bonati, Maria Teresa; Priolo, Manuela; Crippa, Milena; Mazzanti, Laura; Wischmeijer, Anita; Tamburrino, Federica; Pippucci, Tommaso; Finelli, Palma; Larizza, Lidia; Gervasini, Cristina
Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
---|---|---|---|---|---|---|
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. | Graziano C; Carone S; Panza E; Marino F; Magini P; Romeo G; Pession A; Seri M. | 2009-01-01 | BLOOD | - | 1.01 Articolo in rivista | - |
Mitochondrial DNA genotyping reveals synchronous nature of simultaneously detected endometrial and ovarian cancers | F. Guerra; I. Kurelac; P. Magini; A. Cormio; D. Santini; C. Ceccarelli; G. Gasparre | 2011-01-01 | GYNECOLOGIC ONCOLOGY | - | 1.01 Articolo in rivista | - |
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 | Pippucci T;Savoia A;Perrotta S;Pujol-Moix N;Noris P;Castegnaro G;Pecci A;Gnan C;Punzo F;Marconi C...;Gherardi S;Loffredo G;De Rocco D;Scianguetta S;Barozzi S;Magini P;Bozzi V;Dezzani L;Di Stazio M;Ferraro M;Perini G;Seri M;Balduini CL | 2011-01-01 | AMERICAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
EX-HOM (EXome-HOMozygosity): a proof of principle | Pippucci T.; Benelli M.; Magi A.; Martelli P.L.; Magini P.; Torricelli F.; Casadio R.; Seri M.; R...omeo G. | 2011-01-01 | HUMAN HEREDITY | - | 1.01 Articolo in rivista | - |
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype. | Wischmeijer A;Magini P;Giorda R;Gnoli M;Ciccone R;Cecconi L;Franzoni E;Mazzanti L;Romeo G;Zuffard...i O;Seri M | 2011-01-01 | MOLECULAR SYNDROMOLOGY | - | 1.01 Articolo in rivista | - |
Two distinct thyroid tumours in a Cowden Syndrome patient carrying both a 10q23 and a mitochondrial DNA germline deletion | Pradella LM; Zuntini R; Magini P; Ceccarelli C; Neri I; Cerasoli S; Graziano C; Gasparre G; Turch...etti D | 2011-01-01 | JOURNAL OF MEDICAL GENETICS | - | 1.01 Articolo in rivista | - |
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. | Magini P; Monica MD; Uzielli ML; Mongelli P; Scarselli G; Gambineri E; Scarano G; Seri M. | 2012-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved? | Colina M; Pippucci T; Moro MA; Marconi C; Magini P; Ciancio G; Romeo G; Trotta F; Seri M. | 2012-01-01 | CLINICAL AND EXPERIMENTAL RHEUMATOLOGY | - | 1.01 Articolo in rivista | - |
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. | Graziano C; David M; Magini P; Superti-Furga A; Seri M. | 2012-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype | Laura Licchetta; Tommaso Pippucci; Francesca Bisulli; Gaetano Cantalupo; Pamela Magini; Lara Alvi...si; Sara Baldassari; Paolo Martinelli; Ilaria Naldi; Nicola Vanni; Rocco Liguori; Marco Seri; Paolo Tinuper | 2013-01-01 | EPILEPSIA | - | 1.01 Articolo in rivista | - |
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. | Magi A;Tattini L;Cifola I;D'Aurizio R;Benelli M;Mangano E;Battaglia C;Bonora E;Kurg A;Seri M;Magi...ni P;Giusti B;Romeo G;Pippucci T;De Bellis G;Abbate R;Gensini GF | 2013-01-01 | GENOME BIOLOGY | - | 1.01 Articolo in rivista | - |
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. | Bisulli F;Naldi I;Baldassari S;Magini P;Licchetta L;Castegnaro G;Fabbri M;Stipa C;Ferrari S;Seri ...M;Gonçalves Silva GE;Tinuper P;Pippucci T | 2014-01-01 | EPILEPSIA | - | 1.01 Articolo in rivista | - |
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. | Bonora E;Graziano C;Minopoli F;Bacchelli E;Magini P;Diquigiovanni C;Lomartire S;Bianco F;Vargiolu... M;Parchi P;Marasco E;Mantovani V;Rampoldi L;Trudu M;Parmeggiani A;Battaglia A;Mazzone L;Tortora G;Maestrini E;Seri M;Romeo G;IMGSAC | 2014-01-01 | EMBO MOLECULAR MEDICINE | - | 1.01 Articolo in rivista | Bonora.pdf |
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. | Magini P;Pippucci T;Tsai IC;Coppola S;Stellacci E;Bartoletti-Stella A;Turchetti D;Graziano C;Cena...cchi G;Neri I;Cordelli DM;Marchiani V;Bergamaschi R;Gasparre G;Neri G;Mazzanti L;Patrizi A;Franzoni E;Romeo G;Bordo D;Tartaglia M;Katsanis N;Seri M | 2014-01-01 | HUMAN MOLECULAR GENETICS | - | 1.01 Articolo in rivista | - |
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? | Mucciolo, M; Magini, P; Marozza, A; Mongelli, P; Mencarelli, Ma; Hayek, G; Tavalazzi, F; Mari, F;... Seri, M; Renieri, A; Graziano, C. | 2014-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). | Magini P;Bisulli F;Baldassari S;Stipa C;Naldi I;Licchetta L;Menghi V;Tinuper P;Seri M;Pippucci T | 2014-01-01 | EPILEPSY RESEARCH | - | 1.01 Articolo in rivista | - |
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy | T. Pippucci;A. Maresca;P. Magini;G. Cenacchi;V. Donadio;F. Palombo;V. Papa;A. Incensi;G. Gasparre...;M. L. Valentino;C. Preziuso;A. Pisano;M. Ragno;R. Liguori;C. Giordano;C. Tonon;R. Lodi;A. Parmeggiani;V. Carelli;M. Seri | 2015-01-01 | EMBO MOLECULAR MEDICINE | - | 1.01 Articolo in rivista | Homozygous NOTCH3 null mutation and impaired.pdf; Supporting Information.zip |
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration | Magini, Pamela; Poscente, Monica; Ferrari, Simona; Vargiolu, Manuela; Bacchelli, Elena; Graziano,... Claudio; Wischmeijer, Anita; Turchetti, Daniela; Malaspina, Elisabetta; Marchiani, Valentina; Cordelli, Duccio Maria; Franzoni, Emilio; Romeo, Giovanni; Seri, Marco | 2015-01-01 | MOLECULAR CYTOGENETICS | - | 1.01 Articolo in rivista | Magini P et al Recombinant X Chromosome.pdf |
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome | Kuechler, Alma; Zink, Alexander M.; Wieland, Thomas; Lüdecke, Hermann-Josef; Cremer, Kirsten; Sal...viati, Leonardo; Magini, Pamela; Najafi, Kimia; Zweier, Christiane; Czeschik, Johanna Christina; Aretz, Stefan; Endele, Sabine; Tamburrino, Federica; Pinato, Claudia; Clementi, Maurizio; Gundlach, Jasmin; Maylahn, Carina; Mazzanti, Laura; Wohlleber, Eva; Schwarzmayr, Thomas; Kariminejad, Roxana; Schlessinger, Avner; Wieczorek, Dagmar; Strom, Tim M.; Novarino, Gaia; Engels, Hartmut | 2015-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks | Negri, Gloria; Magini, Pamela; Milani, Donatella; Colapietro, Patrizia; Rusconi, Daniela; Scarano..., Emanuela; Bonati, Maria Teresa; Priolo, Manuela; Crippa, Milena; Mazzanti, Laura; Wischmeijer, Anita; Tamburrino, Federica; Pippucci, Tommaso; Finelli, Palma; Larizza, Lidia; Gervasini, Cristina | 2016-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
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