Expanding CEP290 mutational spectrum in ciliopathies

TRAVAGLINI L;BRANCATI F;ATTIE BITACH T;AUDOLLENT S;BERTINI E;KAPLAN J;PERRAULT I;IANNICELLI M;MANCUSO B;RIGOLI L;ROZET JM;SWISTUN D;TOLENTINO J;DALLAPICCOLA B;GLEESON JG;VALENTE EM;INTERNATIONAL JSRD STUDY GROUP;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;KIM CA;MAEGAWA G;PETKOVIC D;ABDEL SALAM GM;ABDEL ALEEM A;ZAKI MS;MARTI I;QUIJANO ROY S;SIGAUDY S;DE LONLAY P;ROMANO S;TOURAINE R;KOENIG M;LAGIER TOURENNE C;MESSER J;COLLIGNON P;WOLF N;PHILIPPI H;KITSIOU TZELI S;HALLDORSSON S;JOHANNSDOTTIR J;LUDVIGSSON P;PHADKE SR;UDANI V;STUART B;MAGEE A;LEV D;MICHELSON M;BEN ZEEV B;FISCHETTO R;BENEDICENTI F;STANZIAL F;BORGATTI R;ACCORSI P;BATTAGLIA S;FAZZI, Elisa Maria;GIORDANO L;PINELLI L;BOCCONE L;BIGONI S;FERLINI A;DONATI MA;CARIDI G;DIVIZIA MT;FARAVELLI F;GHIGGERI G;PESSAGNO A;BRIGUGLIO M;BRIUGLIA S;SALPIETRO CD;TORTORELLA G;ADAMI A;CASTORINA P;LALATTA F;MARRA G;RIVA D;SCELSA B;SPACCINI L;UZIEL G;DEL GIUDICE E;LAVERDA AM;LUDWIG K;PERMUNIAN A;SUPPIEJ A;SIGNORINI S;UGGETTI C;BATTINI R;DI GIACOMO M;CILIO MR;DI SABATO ML;LEUZZI V;PARISI P;POLLAZZON M;SILENGO M;DE VESCOVI R;GRECO D;ROMANO C;CAZZAGON M;SIMONATI A;AL TAWARI AA;BASTAKI L;MÉGARBANÉ A;SABOLIC AVRAMOVSKA V;DE JONG MM;STROMME P;KOUL R;RAJAB A;AZAM M;BARBOT C;MARTORELL SAMPOL L;RODRIGUEZ B;PASCUAL CASTROVIEJO I;TEBER S;ANLAR B;COMU S;KARACA E;KAYSERILI H;YÜKSEL A;AKCAKUS M;AL GAZALI L;SZTRIHA L;NICHOLL D;WOODS CG;BENNETT C;HURST J;SHERIDAN E;BARNICOAT A;HENNEKAM R;LEES M;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;CHUNG 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.

2009-01-01