Sfoglia per Autore
Right phrenic nerve palsy following transcatheter radiofrequency current atrial fibrillation ablation: Case report
2019-01-01 Abbadessa G.; Lavorgna L.; Cirillo G.; Clerico M.; Todisco V.; Cirillo M.; Trojsi F.; Tedeschi G.; Bonavita S.
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples
2016-01-01 Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo
Fetal growth patterns in Beckwith-Wiedemann syndrome
2016-01-01 Mussa, A; Russo, S.; de Crescenzo, A.; Freschi, A.; Calzari, L.; Maitz, S.; Macchiaiolo, M.; Molinatto, C.; Baldassarre, G.; Mariani, M.; Tarani, L.; Bedeschi, M.F.; Milani, D.; Melis, D.; Bartuli, A.; Cubellis, M.V.; Selicorni, A.; Silengo, M.C.; Larizza, L.; Riccio, A.; Ferrero, G.B.
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion.
2014-01-01 Vetro A; Pagani S; Silengo M; Severino M; Bozzola E; Meazza C; Zuffardi O; Bozzola M.
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
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
2014-01-01 Micale L; Augello B; Maffeo C; Selicorni A; Zucchetti F; Fusco C; De Nittis P; Pellico MT; Mandriani B; Fischetto R; Boccone L; Silengo M; Biamino E; Perria C; Sotgiu S; Serra G; Lapi E; Neri M; Ferlini A; Cavaliere ML; Chiurazzi P; Monica MD; Scarano G; Faravelli F; Ferrari P; Mazzanti L; Pilotta A; Patricelli MG; Bedeschi MF; Benedicenti F; Prontera P; Toschi B; Salviati L; Melis D; Di Battista E; Vancini A; Garavelli L; Zelante L; Merla G.
Alpha-fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes.
2014-01-01 Mussa A; Pagliardini S; Pagliardini V; Molinatto C; Baldassarre G; Corrias A; Silengo MC; Ferrero GB.
Comment on "prenatal diagnosis and prognosis in Noonan syndrome".
2013-01-01 Baldassarre G; Mussa A; Silengo M; Ferrero GB.
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
2013-01-01 Ciavarella M; Coco M; Baorda F; Stanziale P; Chetta M; Bisceglia L; Palumbo P; Bengala M; Raiteri P; Silengo M; Caldarini C; Facchini R; Lala R; Cavaliere ML; De Brasi D; Pasini B; Zelante L; Guarnieri V; D'Agruma L.
Progressive extreme heterotopic calcification
2013-01-01 Silengo M; Defilippi C; Belligni E; Biamino E; Flex E; Brusco A; Ferrero GB; Tartaglia M; Hennekam RC
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.
2013-01-01 Meazza C; Lausch E; Pagani S; Bozzola E; Calcaterra V; Superti-Furga A; Silengo M; Bozzola M.
Prevalence of beckwith-wiedemann syndrome in North West of Italy
2013-01-01 Mussa A; Russo S; De Crescenzo A; Chiesa N; Molinatto C; Selicorni A; Richiardi L; Larizza L; Silengo MC; Riccio A; Ferrero GB
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.
2013-01-01 Beygo J; Citro V; Sparago A; De Crescenzo A; Cerrato F; Heitmann M; Rademacher K; Guala A; Enklaar T; Anichini C; Cirillo Silengo M; Graf N; Prawitt D; Cubellis MV; Horsthemke B; Buiting K; Riccio A.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
2013-01-01 Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Collaborators (227), Silengo M, Belligni E.
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome
2013-01-01 Timeus F; Crescenzio N; Baldassarre G; Doria A; Vallero S; Foglia L; Pagliano S; Rossi C; Silengo MC; Ramenghi U; Fagioli F; Cordero di Montezemolo L; Ferrero GB
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
2013-01-01 Makrythanasis P; van Bon BW; Steehouwer M; Rodríguez-Santiago B; Simpson M; Dias P; Anderlid BM; Arts P; Bhat M; Augello B; Biamino E; Bongers EM; Del Campo M; Cordeiro I; Cueto-González AM; Cuscó I; Deshpande C; Frysira E; Louise Izatt; Flores R; Galán E; Gener B; Gilissen C; Granneman SM; Hoyer J; Yntema HG; Kets CM; Koolen DA; Marcelis CL; Medeira A; Micale L; Mohammed S; de Munnik SA; Nordgren A; Reardon SP; Revencu N; Roscioli T; Ruiterkamp-Versteeg M; Santos HG; Schoumans J; Schuurs-Hoeijmakers JH; Silengo MC; Toledo L; Vendrell T; van der Burgt I; van Lier B; Zweier C; Reymond A; Trembath RC; Perez-Jurado L; Dupont J; de Vries BB; Brunner HG; Veltman JA; Merla G; Antonarakis SE; Hoischen A.
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
2013-01-01 Ferraris A, Bernardini L, Sabolic Avramovska V, Zanni G, Loddo S, Sukarova-Angelovska E, Parisi V, Capalbo A, Tumini S, Travaglini L, Mancini F, Duma F, Barresi S, Novelli A, Mercuri E, Tarani L; Italian CBCD Study Group, Bertini E, Dallapiccola B, Valente EM. Collaborators: Arrigoni F, Borgatti R, Romaniello R, Accorsi P, Fazzi E, Giordano L, Pinelli L, Biancheri R, Mirabelli M, Rossi A, Briguglio M, Tortorella G, Chiapparini L, D' Arrigo S, Moroni I, Pantaleoni C, Spaccini L, Uziel G, D' Amico A, Del Giudice E, Pichiecchio A, Signorini S, Battini R, Casarani M, Colafati S, Digilio MC, Leuzzi V, Micalizzi A, Romani M, Spalice A, Travaglini L, Vitiello G, Silengo M, Simonati A.
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients.
2013-01-01 Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium, Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ, Almureikhi M, Baban A, Barbosa M, Ben-Omran T, Berry K, Bigoni S, Boute O, Brueton L, van der Burgt I, Canham N, Chandler KE, Chrzanowska K, Collins AL, de Toni T, Dean J, den Hollander NS, Flore LA, Fryer A, Gardham A, Graham JM Jr, Harrison V, Horn D, Jongmans MC, Josifova D, Kant SG, Kapoor S, Kingston H, Kini U, Kleefstra T, Krajewska-Walasek M, Kramer N, Maas SM, Maciel P, Mancini GM, Maystadt I, McKee S, Milunsky JM, Nampoothiri S, Newbury-Ecob R, Nikkel SM, Parker MJ, Pérez-Jurado LA, Robertson SP, Rooryck C, Shears D, Silengo M, Singh A, Smigiel R, Soares G, Splitt M, Stewart H, Sweeney E, Tassabehji M, Tuysuz B, van Eerde AM, Vincent-Delorme C, Wilson LC, Yesil G.
A familial case of DD/ID variable psychiatric phenotype and optic atrophy due to a novel 1,5 Mb deletion on 2q29
2012-01-01 Belligni E; Biamino E; Molinatto C; Calcia A; Ferrero GB; Silengo M
Incidence of Beckwith-Wiedemann syndrome
2012-01-01 Molinatto C; Mussa A; De Crescenzo N; Chiesa N; Baldassarre G; Selicorni A; Russo S; Riccio A; Silengo M; Ferrero GB.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Right phrenic nerve palsy following transcatheter radiofrequency current atrial fibrillation ablation: Case report | 2019 | Abbadessa G.; Lavorgna L.; Cirillo G.; Clerico M.; Todisco V.; Cirillo M.; Trojsi F.; Tedeschi G.; Bonavita S. | |
| Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples | 2016 | Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo | |
| Fetal growth patterns in Beckwith-Wiedemann syndrome | 2016 | Mussa, A; Russo, S.; de Crescenzo, A.; Freschi, A.; Calzari, L.; Maitz, S.; Macchiaiolo, M.; Molinatto, C.; Baldassarre, G.; Mariani, M.; Tarani, L.; Bedeschi, M.F.; Milani, D.; Melis, D.; Bartuli, A.; Cubellis, M.V.; Selicorni, A.; Silengo, M.C.; Larizza, L.; Riccio, A.; Ferrero, G.B. | |
| Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion. | 2014 | Vetro A; Pagani S; Silengo M; Severino M; Bozzola E; Meazza C; Zuffardi O; Bozzola M. | |
| 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 | |
| Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. | 2014 | Micale L; Augello B; Maffeo C; Selicorni A; Zucchetti F; Fusco C; De Nittis P; Pellico MT; Mandriani B; Fischetto R; Boccone L; Silengo M; Biamino E; Perria C; Sotgiu S; Serra G; Lapi E; Neri M; Ferlini A; Cavaliere ML; Chiurazzi P; Monica MD; Scarano G; Faravelli F; Ferrari P; Mazzanti L; Pilotta A; Patricelli MG; Bedeschi MF; Benedicenti F; Prontera P; Toschi B; Salviati L; Melis D; Di Battista E; Vancini A; Garavelli L; Zelante L; Merla G. | |
| Alpha-fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes. | 2014 | Mussa A; Pagliardini S; Pagliardini V; Molinatto C; Baldassarre G; Corrias A; Silengo MC; Ferrero GB. | |
| Comment on "prenatal diagnosis and prognosis in Noonan syndrome". | 2013 | Baldassarre G; Mussa A; Silengo M; Ferrero GB. | |
| 20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. | 2013 | Ciavarella M; Coco M; Baorda F; Stanziale P; Chetta M; Bisceglia L; Palumbo P; Bengala M; Raiteri P; Silengo M; Caldarini C; Facchini R; Lala R; Cavaliere ML; De Brasi D; Pasini B; Zelante L; Guarnieri V; D'Agruma L. | |
| Progressive extreme heterotopic calcification | 2013 | Silengo M; Defilippi C; Belligni E; Biamino E; Flex E; Brusco A; Ferrero GB; Tartaglia M; Hennekam RC | |
| 3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient. | 2013 | Meazza C; Lausch E; Pagani S; Bozzola E; Calcaterra V; Superti-Furga A; Silengo M; Bozzola M. | |
| Prevalence of beckwith-wiedemann syndrome in North West of Italy | 2013 | Mussa A; Russo S; De Crescenzo A; Chiesa N; Molinatto C; Selicorni A; Richiardi L; Larizza L; Silengo MC; Riccio A; Ferrero GB | |
| The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites. | 2013 | Beygo J; Citro V; Sparago A; De Crescenzo A; Cerrato F; Heitmann M; Rademacher K; Guala A; Enklaar T; Anichini C; Cirillo Silengo M; Graf N; Prawitt D; Cubellis MV; Horsthemke B; Buiting K; Riccio A. | |
| Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. | 2013 | Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Collaborators (227), Silengo M, Belligni E. | |
| Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome | 2013 | Timeus F; Crescenzio N; Baldassarre G; Doria A; Vallero S; Foglia L; Pagliano S; Rossi C; Silengo MC; Ramenghi U; Fagioli F; Cordero di Montezemolo L; Ferrero GB | |
| MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. | 2013 | Makrythanasis P; van Bon BW; Steehouwer M; Rodríguez-Santiago B; Simpson M; Dias P; Anderlid BM; Arts P; Bhat M; Augello B; Biamino E; Bongers EM; Del Campo M; Cordeiro I; Cueto-González AM; Cuscó I; Deshpande C; Frysira E; Louise Izatt; Flores R; Galán E; Gener B; Gilissen C; Granneman SM; Hoyer J; Yntema HG; Kets CM; Koolen DA; Marcelis CL; Medeira A; Micale L; Mohammed S; de Munnik SA; Nordgren A; Reardon SP; Revencu N; Roscioli T; Ruiterkamp-Versteeg M; Santos HG; Schoumans J; Schuurs-Hoeijmakers JH; Silengo MC; Toledo L; Vendrell T; van der Burgt I; van Lier B; Zweier C; Reymond A; Trembath RC; Perez-Jurado L; Dupont J; de Vries BB; Brunner HG; Veltman JA; Merla G; Antonarakis SE; Hoischen A. | |
| Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions. | 2013 | Ferraris A, Bernardini L, Sabolic Avramovska V, Zanni G, Loddo S, Sukarova-Angelovska E, Parisi V, Capalbo A, Tumini S, Travaglini L, Mancini F, Duma F, Barresi S, Novelli A, Mercuri E, Tarani L; Italian CBCD Study Group, Bertini E, Dallapiccola B, Valente EM. Collaborators: Arrigoni F, Borgatti R, Romaniello R, Accorsi P, Fazzi E, Giordano L, Pinelli L, Biancheri R, Mirabelli M, Rossi A, Briguglio M, Tortorella G, Chiapparini L, D' Arrigo S, Moroni I, Pantaleoni C, Spaccini L, Uziel G, D' Amico A, Del Giudice E, Pichiecchio A, Signorini S, Battini R, Casarani M, Colafati S, Digilio MC, Leuzzi V, Micalizzi A, Romani M, Spalice A, Travaglini L, Vitiello G, Silengo M, Simonati A. | |
| Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients. | 2013 | Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium, Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ, Almureikhi M, Baban A, Barbosa M, Ben-Omran T, Berry K, Bigoni S, Boute O, Brueton L, van der Burgt I, Canham N, Chandler KE, Chrzanowska K, Collins AL, de Toni T, Dean J, den Hollander NS, Flore LA, Fryer A, Gardham A, Graham JM Jr, Harrison V, Horn D, Jongmans MC, Josifova D, Kant SG, Kapoor S, Kingston H, Kini U, Kleefstra T, Krajewska-Walasek M, Kramer N, Maas SM, Maciel P, Mancini GM, Maystadt I, McKee S, Milunsky JM, Nampoothiri S, Newbury-Ecob R, Nikkel SM, Parker MJ, Pérez-Jurado LA, Robertson SP, Rooryck C, Shears D, Silengo M, Singh A, Smigiel R, Soares G, Splitt M, Stewart H, Sweeney E, Tassabehji M, Tuysuz B, van Eerde AM, Vincent-Delorme C, Wilson LC, Yesil G. | |
| A familial case of DD/ID variable psychiatric phenotype and optic atrophy due to a novel 1,5 Mb deletion on 2q29 | 2012 | Belligni E; Biamino E; Molinatto C; Calcia A; Ferrero GB; Silengo M | |
| Incidence of Beckwith-Wiedemann syndrome | 2012 | Molinatto C; Mussa A; De Crescenzo N; Chiesa N; Baldassarre G; Selicorni A; Russo S; Riccio A; Silengo M; Ferrero GB. |
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