PESCUCCI, CHIARA

PESCUCCI, CHIARA  

Scienze Biomediche, Sperimentali e Cliniche 'Mario Serio'  

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16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems 2014 Gerundino F; Marseglia G; Pescucci C; Pelo E; Benelli M; Giachini C; Federighi B; Antonelli C; Torricelli F.
2q24-q31 deletion: report of a case and review of the literature 2007 PESCUCCI C; CASELLI R; GROSSO S; MENCARELLI MA; MARI F; FARNETANI MA; PICCINI; B; ARTUSO R; BRUTTINI M; PRIOLO M; ZUFFARDI O; GIMELLI S; BALESTRI P; RENIERI A
2q24-q31 deletion: report of a case and review of the literature 2007 Pescucci, C.; Caselli, R.; Grosso, S.; Mencarelli, M. A.; Mari, F.; Farnetani, M. A.; Piccini, B.; Artuso, R.; Bruttini, M.; Priolo, M.; Zuffardi, O.; Gimelli, S.; Balestri, P.; Renieri, A.
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears 2007 CASELLI, R.; MENCARELLI, M. A.; PAPA, F. T.; ULIANA, V.; SCHIAVONE, S.; STRAMBI, M.; PESCUCCI, C.; ARIANI, F.; ROSSI, V.; LONGO, I.; MELONI, I.; RENIERI, A.; MARI, F.
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears 2007 Caselli R; Mencarelli MA; Papa FT; Uliana V; Schiavone S; Strambi M; Pescucci C; Ariani F; Rossi V; Longo I; Meloni I; Renieri A; Mari F.
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients 2003 Longo I; Frints SG; Fryns JP; Meloni I; Pescucci C; Ariani F; Borghgraef M; Raynaud M; Marynen P; Schwartz C; Renieri A; Froyen G.
An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation 2013 Cortesi A; Rossi M; Mazzi M; Marseglia G; Pescucci C; Palchetti S; Torricelli F; Orrico A.
Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG 2011 Frezzotti P; Pescucci C; Papa FT; Iester M; Mittica V; Motolese I; Peruzzi S; Artuso R; Longo I; Mencarelli MA; Mittica P; Motolese E; Renieri A.
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families 2006 Longo I; Scala E; Mari F; Caselli R; Pescucci C; Mencarelli MA; Speciale C; Giani M; Bresin E; Caringella DA; Borochowitz ZU; Siriwardena K; Winship I; Renieri A; Meloni I.
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene 2004 PESCUCCI C; MARI F; LONGO I; VOGIATZI P; CASELLI R; SCALA E; ABATERUSSO C; GUSMANO R; SERI M; MIGLIETTI N; BRESIN E; RENIERI A
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 2005 MARI F; AZIMONTI S; BERTANI I; BOLOGNESE F; COLOMBO E; CASELLI R; SCALA E; LONGO I; GROSSO S; PESCUCCI C; ARIANI F; HAYEK G; BALESTRI P; BERGO A; BADARACCO; G; ZAPPELLA M; BROCCOLI V; RENIERI A; KILSTRUP-NIELSEN C; LANDSBERGER N
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 2006 Mari F; Azimonti S; Bertani I; Bolognese F; Colombo E; Caselli R; Scala E; Longo I; Grosso S; Pescucci C; Ariani F; Hayek G; Balestri P; Bergo A; Badaracco G; Zappella M; Broccoli V; Renieri A; Kilstrup-Nielsen C; Landsberger N.
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 2005 Mari, F.; Azimonti, S.; Bertani, I.; Bolognese, F.; Colombo, E.; Caselli, R.; Scala, E.; Longo, I.; Grosso, S.; Pescucci, C.; Ariani, F.; Hayek, G.; Balestri, P.; Bergo, A.; Badaracco, G.; Zappella, M.; Broccoli, V.; Renieri, A.; Kilstrup-Nielsen, C.; Landsberger, N.
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms 2005 Scala E; Ariani F; Mari F; Caselli R; Pescucci C; Longo I; Meloni I; Giachino D; Bruttini M; Hayek G; Zappella M; Renieri A.
Characterization of copy number variants in hereditary cancer patients through NGS shows a distinctive PALB2 contribution to the diagnostic yield 2026 Bonamici, Lia; Artuso, Lucia; Marino, Marco; Toss, Angela; Sidoti, Diletta; Barbieri, Elena; Venturelli, Marta; Marchi, Isabella; Pescucci, Chiara; Manfredini, Rossella; Papi, Laura; Dominici, Massimo; Cortesi, Laura; Tenedini, Elena; Tagliafico, Enrico
Chromosomal alterations detected by comparative genomic hybridization in nonfunctioning endocrine pancreatic tumors 2005 Floridia G; Grilli G; Salvatore M; Pescucci C; Moore PS; Scarpa A; Taruscio D.
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 2003 Pescucci C; Meloni I; Bruttini M; Ariani F; Longo I; Mari F; Canitano R; Hayek G; Zappella M; Renieri A.
Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH 2007 MENCARELLI MA; CASELLI R; PESCUCCI C; HAYEK G; ZAPPELLA M; RENIERI A; MARI F
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 2007 Katzaki E; Pescucci C; Uliana V; Papa FT; Ariani F; Meloni I; Priolo M; Selicorni A; Milani D; Fischetto R; Celle ME; Grasso R; Dallapiccola B; Brancati F; Bordignon M; Tenconi R; Federico A; Mari F; Renieri A; Longo I.
Easy genotyping of complement C3 'slow' and 'fast' allotypes by tetra-primer amplification refractory mutation system PCR 2010 Peruzzi B; Serra M; Pescucci C; Sica M; Lastraioli S; Rondelli T; Pedemonte S; Risitano AM; De Angioletti M; Piccioli P; Notaro R.