Sfoglia per Autore
ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation
2010-01-01 Biamino E; Garelli E; Chiesa N; Sorasio L; Belligni E; Marinosci A;Seri M; Silengo M; Ferrero GB
Eyebrow anomalies as a diagnostic sign of genomic disorders
2010-01-01 Silengo M; Belligni E; Molinatto C; Baldassarre G; Biamino E; Chiesa N; Zuffardi O; Girirajan S; Eichler EE; Ferrero GB
A restricted spectrum of NRAS mutations causes Noonan syndrome
2010-01-01 Cirstea IC; Kutsche K; Dvorsky R; Gremer L; Carta C; Horn D; Roberts AE; Lepri F; Merbitz-Zahradnik T; König R; Kratz CP; Pantaleoni F; Dentici ML; Joshi VA; Kucherlapati RS; Mazzanti L; Mundlos S; Patton MA; Silengo MC; Rossi C; Zampino G; Digilio C; Stuppia L; Seemanova E; Pennacchio LA; Gelb BD; Dallapiccola B; Wittinghofer A; Ahmadian MR; Tartaglia M; Zenker M.
Analisi del profilo di trascrizione genetica nella sindrome di Noonan.
2010-01-01 Picco G; Cantarella D; Baldassarre G; Marinosci A; Dotta A; Isella C; Crescenzo N; Timeus F; Chiesa N; Merla G; Mazzanti L; Rossi C; Zampino G; Tartaglia M; Silengo M; Medico E; Ferrero GB.
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-relatedciliopathies.
2010-01-01 Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Collaborators: Ali Pacha L, Tazir M, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Ae Kim C, Maegawa G, Loncarevic D, Mejaski-Bosnjak V, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Verloes A, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Lemke J, Dacou-Voutetakis C, Kitsiou Tzeli S, Pons R, Sztriha L, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Di Giacomo M, Gentile M, Guanti G, D'Addato O, Papadia F, Spano M, Bernardi F, Seri M, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Izzi C, Pinelli L, Boccone L, Guanciali P, Romoli R, Bigoni S, Ferlini A, Andreucci E, Donati MA, Genuardi M, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno, Amorini M, Briguglio M, Briuglia S, Rigoli L, Salpietro C, Tortorella G, Adami A, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Coppola G, Del Giudice E, Vitiello G, Laverda AM, Ludwig K, Permunian A, Suppiej A, Macaluso C, Signorini S, Uggetti C, Battini R, Di Giacomo M, Priolo M, Cilio MR, D'Amico A, Di Sabato ML, Emma F, Leuzzi V, Parisi P, Stringini G, Zanni G, Pollazzon M, Renieri A, Vascotto M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Matuleviciene A, Sabolic Avramovska V, Said E, de Jong MM, Prescott T, Stromme P, von der Lippe C, Koul R, Rajab A, Azam M, Barbot C, Jocic-Jakubi B, Gener Querol B, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Strozzi S, Fluss J, Teber S, Topcu M, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akgul M, Akcakus M, Al Gazali L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Carr L, Hennekam R, Lees M, McKay F, Yates L, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Cjung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D.
Remittent hyperammonemia in congenital portosystemic shunt
2010-01-01 Ferrero GB; Porta F; Biamino E; Mussa A; Garelli E; Chiappe F; Veltri A; Silengo MC; Gennari F
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2),and parastremmatic dysplasia are caused by TRPV4 mutations.
2010-01-01 Nishimura G; Dai J; Lausch E; Unger S; Megarbané A; Kitoh H; Kim OH; Cho TJ; Bedeschi F; Benedicenti F; Mendoza-Londono R; Silengo M; Schmidt-Rimpler M; Spranger J; Zabel B; Ikegawa S; Superti-Furga A.
A heritable cause of cleft lip and palate-Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
2010-01-01 Ferrero GB; Baldassarre G; Panza E; Valenzise M; Pippucci T; Mussa A; Pepe E; Seri M; Silengo MC
a microduplication of the centromeric domain of the 11p15.5 impirnted gene cluster is associated with loss of DNA methylation and familial BWS.
2010-01-01 Chiesa N; De Crescenzo N; Mussa A; Baldassarre G; Perone L; Carella M; Cirillo Silengo M; Riccio A; Ferrero GB
The overlap between Sotos and Beckwith-Wiedemann syndromes
2010-01-01 Mussa A; Chiesa N; Porta F; Baldassarre G; Silengo MC; Ferrero GB.
Genotypic and phenotypic spectrum of 44 patients with Noonan syndrome
2009-01-01 Baldassarre G; Rossi C; Chiesa N; Mussa A; Marinosci A; Tartaglia M; Silengo M; Ferrero GB
ARRAY-CGH analysis in 92 children with complex syndromic phenotype
2009-01-01 Belligni E; Molinatto C; Biamino E; Chiesa N; Marinosci AL; Vetro A; Girirajan S; Zuffardi O; Eichler E; Ferrero GB; Silengo M
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum
2009-01-01 Sarkozy A; Carta C; Moretti S; Zampino G; Digilio MC; Pantaleoni F; Scioletti AP; Esposito G; Cordeddu V; Lepri F; Petrangeli V; Dentici ML; Mancini GM; Selicorni A; Rossi C; Mazzanti L; Marino B; Ferrero GB; Silengo MC; Memo L; Stanzial F; Faravelli F; Stuppia L; Puxeddu E; Gelb BD; Dallapiccola B; Tartaglia M
An atypical 7q11.23 deletion in a normal IQ Williams-Beurensyndrome patient
2009-01-01 Biamino E; Howald C; Micale L; Augello B; Fusco C; Turturo MG; Forzano S; Silengo M; Ferrero GB ; Reymond A; Merla G
Germline BRAF mutations in Noonan, LEOPARD and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum
2009-01-01 Sarkozy A; Carta A; Moretti S; Zampino G; Digilio MC; Pantaleoni F; Scioletti AP; Esposito G; Cordeddu V; Lepri F; Petrangeli V; Dentici ML; Mancini GMS; Selicorni A; Rossi C; Mazzanti L; Marino B; Ferrero GB; Cirillo Silengo M; Faravelli F; Stuppia L; Puxeddu E; Gelb BD; Dallapiccola B; Tartaglia M
Transcriptional hallmarks of Noonan syndrome in peripheral blood mononuclear cells
2009-01-01 Ferrero GB; Cantarella D; Baldassarre G; Isella C; Crescenzio N; Pagliano S; Silengo M; Medico E
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature
2009-01-01 Garavelli L; Zollino M; Mainardi PC; Gurrieri F; Rivieri F; Soli F; Verri R; Albertini E; Favaron E; Zignani M; Orteschi D; Bianchi P; Faravelli F; Forzano F; Seri M; Wischmeijer A; Turchetti D; Pompilii E; Gnoli M; Cocchi G; Mazzanti L; Bergamaschi R; De Brasi D; Sperandeo MP; Mari F; Uliana V; Mostardini R; Cecconi M; Grasso M; Sassi S; Sebastio G; Renieri A; Silengo M; Bernasconi S; Wakamatsu N; Neri G.
Doppia Trisomia
2009-01-01 Molinatto C; Baldassarre G; Biamnio E; Marinosci A; Silengo M
Array-CGH analysis in a patient with Acrocallosal Syndrome
2009-01-01 Belligni EF; Ferrero GB; Vetro A; Chiesa N; Biamino E; Molinatto C; Baldassarre G; Zuffardi O; Silengo M
Molecular dissection of Noonan syndrome by transcriptiome analysis
2009-01-01 Ferrero GB; Cantarella D; Baldassarre G; Isella C; Crescenzo N; Timeus F; Chiesa N; Merla G; Mazzanti L; Rossi C; Zampino G; Tartaglia M; Silengo M; Medico E
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation | 2010 | Biamino E; Garelli E; Chiesa N; Sorasio L; Belligni E; Marinosci A;Seri M; Silengo M; Ferrero GB | |
| Eyebrow anomalies as a diagnostic sign of genomic disorders | 2010 | Silengo M; Belligni E; Molinatto C; Baldassarre G; Biamino E; Chiesa N; Zuffardi O; Girirajan S; Eichler EE; Ferrero GB | |
| A restricted spectrum of NRAS mutations causes Noonan syndrome | 2010 | Cirstea IC; Kutsche K; Dvorsky R; Gremer L; Carta C; Horn D; Roberts AE; Lepri F; Merbitz-Zahradnik T; König R; Kratz CP; Pantaleoni F; Dentici ML; Joshi VA; Kucherlapati RS; Mazzanti L; Mundlos S; Patton MA; Silengo MC; Rossi C; Zampino G; Digilio C; Stuppia L; Seemanova E; Pennacchio LA; Gelb BD; Dallapiccola B; Wittinghofer A; Ahmadian MR; Tartaglia M; Zenker M. | |
| Analisi del profilo di trascrizione genetica nella sindrome di Noonan. | 2010 | Picco G; Cantarella D; Baldassarre G; Marinosci A; Dotta A; Isella C; Crescenzo N; Timeus F; Chiesa N; Merla G; Mazzanti L; Rossi C; Zampino G; Tartaglia M; Silengo M; Medico E; Ferrero GB. | |
| Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-relatedciliopathies. | 2010 | Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Collaborators: Ali Pacha L, Tazir M, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Ae Kim C, Maegawa G, Loncarevic D, Mejaski-Bosnjak V, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Verloes A, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Lemke J, Dacou-Voutetakis C, Kitsiou Tzeli S, Pons R, Sztriha L, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Di Giacomo M, Gentile M, Guanti G, D'Addato O, Papadia F, Spano M, Bernardi F, Seri M, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Izzi C, Pinelli L, Boccone L, Guanciali P, Romoli R, Bigoni S, Ferlini A, Andreucci E, Donati MA, Genuardi M, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno, Amorini M, Briguglio M, Briuglia S, Rigoli L, Salpietro C, Tortorella G, Adami A, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Coppola G, Del Giudice E, Vitiello G, Laverda AM, Ludwig K, Permunian A, Suppiej A, Macaluso C, Signorini S, Uggetti C, Battini R, Di Giacomo M, Priolo M, Cilio MR, D'Amico A, Di Sabato ML, Emma F, Leuzzi V, Parisi P, Stringini G, Zanni G, Pollazzon M, Renieri A, Vascotto M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Matuleviciene A, Sabolic Avramovska V, Said E, de Jong MM, Prescott T, Stromme P, von der Lippe C, Koul R, Rajab A, Azam M, Barbot C, Jocic-Jakubi B, Gener Querol B, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Strozzi S, Fluss J, Teber S, Topcu M, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akgul M, Akcakus M, Al Gazali L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Carr L, Hennekam R, Lees M, McKay F, Yates L, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Cjung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D. | |
| Remittent hyperammonemia in congenital portosystemic shunt | 2010 | Ferrero GB; Porta F; Biamino E; Mussa A; Garelli E; Chiappe F; Veltri A; Silengo MC; Gennari F | |
| Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2),and parastremmatic dysplasia are caused by TRPV4 mutations. | 2010 | Nishimura G; Dai J; Lausch E; Unger S; Megarbané A; Kitoh H; Kim OH; Cho TJ; Bedeschi F; Benedicenti F; Mendoza-Londono R; Silengo M; Schmidt-Rimpler M; Spranger J; Zabel B; Ikegawa S; Superti-Furga A. | |
| A heritable cause of cleft lip and palate-Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. | 2010 | Ferrero GB; Baldassarre G; Panza E; Valenzise M; Pippucci T; Mussa A; Pepe E; Seri M; Silengo MC | |
| a microduplication of the centromeric domain of the 11p15.5 impirnted gene cluster is associated with loss of DNA methylation and familial BWS. | 2010 | Chiesa N; De Crescenzo N; Mussa A; Baldassarre G; Perone L; Carella M; Cirillo Silengo M; Riccio A; Ferrero GB | |
| The overlap between Sotos and Beckwith-Wiedemann syndromes | 2010 | Mussa A; Chiesa N; Porta F; Baldassarre G; Silengo MC; Ferrero GB. | |
| Genotypic and phenotypic spectrum of 44 patients with Noonan syndrome | 2009 | Baldassarre G; Rossi C; Chiesa N; Mussa A; Marinosci A; Tartaglia M; Silengo M; Ferrero GB | |
| ARRAY-CGH analysis in 92 children with complex syndromic phenotype | 2009 | Belligni E; Molinatto C; Biamino E; Chiesa N; Marinosci AL; Vetro A; Girirajan S; Zuffardi O; Eichler E; Ferrero GB; Silengo M | |
| Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum | 2009 | Sarkozy A; Carta C; Moretti S; Zampino G; Digilio MC; Pantaleoni F; Scioletti AP; Esposito G; Cordeddu V; Lepri F; Petrangeli V; Dentici ML; Mancini GM; Selicorni A; Rossi C; Mazzanti L; Marino B; Ferrero GB; Silengo MC; Memo L; Stanzial F; Faravelli F; Stuppia L; Puxeddu E; Gelb BD; Dallapiccola B; Tartaglia M | |
| An atypical 7q11.23 deletion in a normal IQ Williams-Beurensyndrome patient | 2009 | Biamino E; Howald C; Micale L; Augello B; Fusco C; Turturo MG; Forzano S; Silengo M; Ferrero GB ; Reymond A; Merla G | |
| Germline BRAF mutations in Noonan, LEOPARD and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum | 2009 | Sarkozy A; Carta A; Moretti S; Zampino G; Digilio MC; Pantaleoni F; Scioletti AP; Esposito G; Cordeddu V; Lepri F; Petrangeli V; Dentici ML; Mancini GMS; Selicorni A; Rossi C; Mazzanti L; Marino B; Ferrero GB; Cirillo Silengo M; Faravelli F; Stuppia L; Puxeddu E; Gelb BD; Dallapiccola B; Tartaglia M | |
| Transcriptional hallmarks of Noonan syndrome in peripheral blood mononuclear cells | 2009 | Ferrero GB; Cantarella D; Baldassarre G; Isella C; Crescenzio N; Pagliano S; Silengo M; Medico E | |
| Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature | 2009 | Garavelli L; Zollino M; Mainardi PC; Gurrieri F; Rivieri F; Soli F; Verri R; Albertini E; Favaron E; Zignani M; Orteschi D; Bianchi P; Faravelli F; Forzano F; Seri M; Wischmeijer A; Turchetti D; Pompilii E; Gnoli M; Cocchi G; Mazzanti L; Bergamaschi R; De Brasi D; Sperandeo MP; Mari F; Uliana V; Mostardini R; Cecconi M; Grasso M; Sassi S; Sebastio G; Renieri A; Silengo M; Bernasconi S; Wakamatsu N; Neri G. | |
| Doppia Trisomia | 2009 | Molinatto C; Baldassarre G; Biamnio E; Marinosci A; Silengo M | |
| Array-CGH analysis in a patient with Acrocallosal Syndrome | 2009 | Belligni EF; Ferrero GB; Vetro A; Chiesa N; Biamino E; Molinatto C; Baldassarre G; Zuffardi O; Silengo M | |
| Molecular dissection of Noonan syndrome by transcriptiome analysis | 2009 | Ferrero GB; Cantarella D; Baldassarre G; Isella C; Crescenzo N; Timeus F; Chiesa N; Merla G; Mazzanti L; Rossi C; Zampino G; Tartaglia M; Silengo M; Medico E |
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