Sfoglia per Autore
I test genetici nella pratica clinica
2014-01-01 Daniela Giachino; Giorgia Mandrile; Mario De Marchi; Giuseppe Ventriglia
A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns
2014-01-01 Iolanda Borelli;Guido C. Casalis Cavalchini;Serena Del Peschio;Monica Micheletti;Tiziana Venesio;Ivana Sarotto;Anna Allavena;Luisa Delsedime;Marco A. Barberis;Giorgia Mandrile;Paola Berchialla;Paola Ogliara;Cecilia Bracco;Barbara Pasini
Bi-allelic MSH6 mutations in a case of early onset multiple primary tumors resembling Lynch and Turcot syndrome
2014-01-01 G. C. Casalis Cavalchini; D. Giachino; G. Mandrile; I. Borelli; M. Micheletti; T. Venesio; M. De Marchi; B. Pasini
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion
2014-01-01 D. Carli; G. Mandrile; E. Savin; G. Rivalta; M. Rolando; D. F. Giachino; E. Di Gregorio; A. Brusco
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans
2014-01-01 G. Mandrile; E. Di Gregorio; H. Goel; D. F. Giachino; S. De Mercanti; M. Iudicello; S. Losa; M. Rolando; L. Ranum; M. De Marchi; A. Brusco
Primary hyperoxaluria: analysis of GRHPR, HOGA1 genes and the promoter-sequence of AGXT gene in the Italian population
2014-01-01 A. Pelle; G. Mandrile; A. Cuccurullo; C. Mancini; R. Sebastiano; S. Varacalli; D. F. Giachino; M. De Marchi
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.
2014-01-01 Mandrile G;Di Gregorio E;Calcia A;Brussino A;Grosso E;Savin E;Giachino DF;Brusco A
S81 L and G170R mutations causing Primary Hyperoxaluria Type I in homozygosis and heterozygosis: an example of positive interallelic complementation.
2014-01-01 Montioli R;Roncador A;Oppici E;Mandrile G;Giachino DF;Cellini B;Voltattorni CB
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia
2014-01-01 Giorgia Mandrile;Gian Nicola Gallus;Giuseppe Mura;Alessia Sapio;Maria Alessandra Sotgiu;Andrea Montella;Daniela Francesca Giachino;Maria Teresa Dotti;Lucia Ulgheri;Antonio Federico
SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients.
2014-01-01 Ricci MT;Menegon S;Vatrano S;Mandrile G;Cerrato N;Carvalho P;De Marchi M;Gaita F;Giustetto C;Giachino DF
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
2014-01-01 Mandrile G;van Woerden CS;Berchialla P;Beck BB;Acquaviva Bourdain C;Hulton SA;Rumsby G
GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWAYS.
2014-01-01 Libri DV;Kleinau G;Vezzoli V;Busnelli M;Guizzardi F;Sinisi AA;Pincelli AI;Mancini A;Russo G;Beck-Peccoz P;Loche S;Crivellaro C;Maghnie M;Krausz C;Persani L;Bonomi M;on behalf of the Italian study group on Idiopathic Central Hypogonadism (ICH) Aimaretti G; Altobelli M; Arnaldi G; Baldi M; Bartalena L; Beccaria L; Bellastella G; Bellizzi M; Bona G; Borretta G; Buzi F; Cannavò S; Cappa M; Cariboni A; Ciampani T; Cicognani A; Cisternino M; Corbetta S; Corciulo N; Corona G; Cozzi R; D'Elia AV; Degli Uberti E; De Marchi M; Forti G; di Iorgi N; Isidori A; Fabbri A; Ferlin A; Foresta C; Franceschi R; Garolla A; Gaudino R; Giagulli V; Grosso E; Jannini E; Lanfranco F; Larizza L; Lenzi A; Lombardo F; Limone P; Maggi M; Maggi R; Maggio MC; Mandrile G; Marino M; Mencarelli MA; Migone N; Neri G; Perroni L; Pignatti E; Pilotta A; Pizzocaro A; Pontecorvi A; Pozzobon G; Prodam F; Radetti G; Razzore P; Salerno MC; Salvatoni A; Salvini F; Secco A; Segni M; Simoni M; Vigneri R; Weber G.
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.
2014-01-01 Eleonora, Di Gregorio ; Elisa, Savin; Elisa, Biamino; Elga Fabia, Belligni ; Valeria Giorgia,Naretto ; Gaetana, D’Alessandro; Giorgia, Gai; Franco, Fiocchi; Alessandro, Calcia; Cecilia, Mancini; Elisa, Giorgio; Simona, Cavalieri; Flavia, Talarico; Patrizia, Pappi; Marina, Gandione; Monica, Grosso; Valentina, Asnaghi; Gabriella, Restagno; Giorgia, Mandrile; Giovanni, Botta; Margherita, Cirillo ; Enrico, Grosso; Giovanni Battista, Ferrero ; Alfredo, Brusco
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases
2014-01-01 C Fallerini;L Dosa;R Tita;D Del Prete;S Feriozzi;G Gai;M Clementi;A La Manna;N Miglietti;R Mancini;G Mandrile;GM Ghiggeri;G Piaggio;F Brancati;L Diano;E Frate;AR Pinciaroli;M Giani;P Castorina;E Bresin;D Giachino;M De Marchi;F Mari;M Bruttini;A Renieri;F Ariani
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.
2015-01-01 Maillard AM;Ruef A;Pizzagalli F;Migliavacca E;Hippolyte L;Adaszewski S;Dukart J;Ferrari C;Conus P;Männik K;Zazhytska M;Siffredi V;Maeder P;Kutalik Z;Kherif F;Hadjikhani N;Beckmann JS;Reymond A;Draganski B;Jacquemont S;16p11.2 European Consortium including Addor MC; Andrieux J; Arveiler B; Baujat G; Béna F; Bouquillon S; Boute O; Brusco A; Campion D; David A; Delrue MA; Doco-Fenzy M; Fagerberg C; Faivre L; Forzano F; Giachino D; Guichet A; Guillin O; Héron D; Isidor B; Jacquette A; Journel H; Keren B; Lacombe D; Le Caignec C; Lespinasse J; Mandrile G; Mathieu-Dramard M; Mignot C; Petit F; Plessis G; Prieur F; Sanlaville D; Van Haelst M; Van Maldergem L
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)
2016-01-01 Micalizzi, Alessia; Poretti, Andrea; Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; Von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria
In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis
2016-01-01 Pagliarini, Roberto; Castello, Raffaele; Napolitano, Francesco; Borzone, Roberta; Annunziata, Patrizia; Mandrile, Giorgia; De Marchi, Mario; Brunetti-Pierri, Nicola; di Bernardo, Diego
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans
2016-01-01 Mandrile, Giorgia; Di Gregorio, Eleonora; Goel, Himanshu; Giachino, Daniela; De Mercanti, Stefania; Iudicello, Marco; Rolando, Marco; Losa, Sabrina; De Marchi, Mario; Brusco, Alfredo
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes
2017-01-01 DI GREGORIO, Eleonora; Riberi, Evelise; Belligni, ELGA FABIA; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, VALERIA GIORGIA; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; DE MARCHI, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
2017-01-01 Collins, Ryan L.; Brand, Harrison; Redin, Claire E.; Hanscom, Carrie; Antolik, Caroline; Stone, Matthew R.; Glessner, Joseph T.; Mason, Tamara; Pregno, Giulia; Dorrani, Naghmeh; Mandrile, Giorgia; Giachino, Daniela; Perrin, Danielle; Walsh, Cole; Cipicchio, Michelle; Costello, Maura; Stortchevoi, Alexei; An, Joon-Yong; Currall, Benjamin B.; Seabra, Catarina M.; Ragavendran, Ashok; Margolin, Lauren; Martinez-Agosto, Julian A.; Lucente, Diane; Levy, Brynn; Sanders, Stephan J.; Wapner, Ronald J.; Quintero-Rivera, Fabiola; Kloosterman, Wigard; Talkowski, Michael E.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| I test genetici nella pratica clinica | 2014 | Daniela Giachino; Giorgia Mandrile; Mario De Marchi; Giuseppe Ventriglia | |
| A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns | 2014 | Iolanda Borelli;Guido C. Casalis Cavalchini;Serena Del Peschio;Monica Micheletti;Tiziana Venesio;Ivana Sarotto;Anna Allavena;Luisa Delsedime;Marco A. Barberis;Giorgia Mandrile;Paola Berchialla;Paola Ogliara;Cecilia Bracco;Barbara Pasini | |
| Bi-allelic MSH6 mutations in a case of early onset multiple primary tumors resembling Lynch and Turcot syndrome | 2014 | G. C. Casalis Cavalchini; D. Giachino; G. Mandrile; I. Borelli; M. Micheletti; T. Venesio; M. De Marchi; B. Pasini | |
| 9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion | 2014 | D. Carli; G. Mandrile; E. Savin; G. Rivalta; M. Rolando; D. F. Giachino; E. Di Gregorio; A. Brusco | |
| Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans | 2014 | G. Mandrile; E. Di Gregorio; H. Goel; D. F. Giachino; S. De Mercanti; M. Iudicello; S. Losa; M. Rolando; L. Ranum; M. De Marchi; A. Brusco | |
| Primary hyperoxaluria: analysis of GRHPR, HOGA1 genes and the promoter-sequence of AGXT gene in the Italian population | 2014 | A. Pelle; G. Mandrile; A. Cuccurullo; C. Mancini; R. Sebastiano; S. Varacalli; D. F. Giachino; M. De Marchi | |
| A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. | 2014 | Mandrile G;Di Gregorio E;Calcia A;Brussino A;Grosso E;Savin E;Giachino DF;Brusco A | |
| S81 L and G170R mutations causing Primary Hyperoxaluria Type I in homozygosis and heterozygosis: an example of positive interallelic complementation. | 2014 | Montioli R;Roncador A;Oppici E;Mandrile G;Giachino DF;Cellini B;Voltattorni CB | |
| Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia | 2014 | Giorgia Mandrile;Gian Nicola Gallus;Giuseppe Mura;Alessia Sapio;Maria Alessandra Sotgiu;Andrea Montella;Daniela Francesca Giachino;Maria Teresa Dotti;Lucia Ulgheri;Antonio Federico | |
| SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients. | 2014 | Ricci MT;Menegon S;Vatrano S;Mandrile G;Cerrato N;Carvalho P;De Marchi M;Gaita F;Giustetto C;Giachino DF | |
| Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. | 2014 | Mandrile G;van Woerden CS;Berchialla P;Beck BB;Acquaviva Bourdain C;Hulton SA;Rumsby G | |
| GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWAYS. | 2014 | Libri DV;Kleinau G;Vezzoli V;Busnelli M;Guizzardi F;Sinisi AA;Pincelli AI;Mancini A;Russo G;Beck-Peccoz P;Loche S;Crivellaro C;Maghnie M;Krausz C;Persani L;Bonomi M;on behalf of the Italian study group on Idiopathic Central Hypogonadism (ICH) Aimaretti G; Altobelli M; Arnaldi G; Baldi M; Bartalena L; Beccaria L; Bellastella G; Bellizzi M; Bona G; Borretta G; Buzi F; Cannavò S; Cappa M; Cariboni A; Ciampani T; Cicognani A; Cisternino M; Corbetta S; Corciulo N; Corona G; Cozzi R; D'Elia AV; Degli Uberti E; De Marchi M; Forti G; di Iorgi N; Isidori A; Fabbri A; Ferlin A; Foresta C; Franceschi R; Garolla A; Gaudino R; Giagulli V; Grosso E; Jannini E; Lanfranco F; Larizza L; Lenzi A; Lombardo F; Limone P; Maggi M; Maggi R; Maggio MC; Mandrile G; Marino M; Mencarelli MA; Migone N; Neri G; Perroni L; Pignatti E; Pilotta A; Pizzocaro A; Pontecorvi A; Pozzobon G; Prodam F; Radetti G; Razzore P; Salerno MC; Salvatoni A; Salvini F; Secco A; Segni M; Simoni M; Vigneri R; Weber G. | |
| Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. | 2014 | Eleonora, Di Gregorio ; Elisa, Savin; Elisa, Biamino; Elga Fabia, Belligni ; Valeria Giorgia,Naretto ; Gaetana, D’Alessandro; Giorgia, Gai; Franco, Fiocchi; Alessandro, Calcia; Cecilia, Mancini; Elisa, Giorgio; Simona, Cavalieri; Flavia, Talarico; Patrizia, Pappi; Marina, Gandione; Monica, Grosso; Valentina, Asnaghi; Gabriella, Restagno; Giorgia, Mandrile; Giovanni, Botta; Margherita, Cirillo ; Enrico, Grosso; Giovanni Battista, Ferrero ; Alfredo, Brusco | |
| Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases | 2014 | C Fallerini;L Dosa;R Tita;D Del Prete;S Feriozzi;G Gai;M Clementi;A La Manna;N Miglietti;R Mancini;G Mandrile;GM Ghiggeri;G Piaggio;F Brancati;L Diano;E Frate;AR Pinciaroli;M Giani;P Castorina;E Bresin;D Giachino;M De Marchi;F Mari;M Bruttini;A Renieri;F Ariani | |
| The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. | 2015 | Maillard AM;Ruef A;Pizzagalli F;Migliavacca E;Hippolyte L;Adaszewski S;Dukart J;Ferrari C;Conus P;Männik K;Zazhytska M;Siffredi V;Maeder P;Kutalik Z;Kherif F;Hadjikhani N;Beckmann JS;Reymond A;Draganski B;Jacquemont S;16p11.2 European Consortium including Addor MC; Andrieux J; Arveiler B; Baujat G; Béna F; Bouquillon S; Boute O; Brusco A; Campion D; David A; Delrue MA; Doco-Fenzy M; Fagerberg C; Faivre L; Forzano F; Giachino D; Guichet A; Guillin O; Héron D; Isidor B; Jacquette A; Journel H; Keren B; Lacombe D; Le Caignec C; Lespinasse J; Mandrile G; Mathieu-Dramard M; Mignot C; Petit F; Plessis G; Prieur F; Sanlaville D; Van Haelst M; Van Maldergem L | |
| Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) | 2016 | Micalizzi, Alessia; Poretti, Andrea; Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; Von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria | |
| In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis | 2016 | Pagliarini, Roberto; Castello, Raffaele; Napolitano, Francesco; Borzone, Roberta; Annunziata, Patrizia; Mandrile, Giorgia; De Marchi, Mario; Brunetti-Pierri, Nicola; di Bernardo, Diego | |
| Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans | 2016 | Mandrile, Giorgia; Di Gregorio, Eleonora; Goel, Himanshu; Giachino, Daniela; De Mercanti, Stefania; Iudicello, Marco; Rolando, Marco; Losa, Sabrina; De Marchi, Mario; Brusco, Alfredo | |
| Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes | 2017 | DI GREGORIO, Eleonora; Riberi, Evelise; Belligni, ELGA FABIA; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, VALERIA GIORGIA; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; DE MARCHI, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista | |
| Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome | 2017 | Collins, Ryan L.; Brand, Harrison; Redin, Claire E.; Hanscom, Carrie; Antolik, Caroline; Stone, Matthew R.; Glessner, Joseph T.; Mason, Tamara; Pregno, Giulia; Dorrani, Naghmeh; Mandrile, Giorgia; Giachino, Daniela; Perrin, Danielle; Walsh, Cole; Cipicchio, Michelle; Costello, Maura; Stortchevoi, Alexei; An, Joon-Yong; Currall, Benjamin B.; Seabra, Catarina M.; Ragavendran, Ashok; Margolin, Lauren; Martinez-Agosto, Julian A.; Lucente, Diane; Levy, Brynn; Sanders, Stephan J.; Wapner, Ronald J.; Quintero-Rivera, Fabiola; Kloosterman, Wigard; Talkowski, Michael E. |
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