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Titolo Data di pubblicazione Autore(i) File
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 2000 Semprini, S; Mango, R; Brancati, Francesco; Dallapiccola, B; Becherini, L; Novelli, G; DE LORENZO, A; Brandi, Ml; Gennari, L.
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 2001 Semprini, S; Tacconelli, A; Capon, F; Brancati, Francesco; Dallapiccola, B; Novelli, G.
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome. 2002 Sarkozy, A; Mingarelli, R; Brancati, Francesco; Dallapiccola, B.
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 2002 Valente, Em; Brancati, Francesco; Caputo, V; Bertini, E; Patrono, C; Costanti, D; Dallapiccola, B.
PARK6-linked parkinsonism occurs in several European families. 2002 Valente, Em; Brancati, Francesco; Ferraris, A; Graham, Ea; Davis, Mb; Breteler, Mm; Gasser, T; Bonifati, V; Bentivoglio, Ar; DE MICHELE, G; Durr, A; Cortelli, P; Wassilowsky, D; Harhangi, Bs; Rawal, N; Caputo, V; Filla, A; Meco, G; Oostra, Ba; Brice, A; Albanese, A; Dallapiccola, B; Wood, Nw; EUROPEAN CONSORTIUM ON GENETIC SUSCEPTIBILITY IN PARKINSON'S, Disease
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 2002 Brancati, Francesco; Defazio, G; Caputo, V; Valente, Em; Pizzuti, A; Livrea, P; Berardelli, A; Dallapiccola, B.
PARK6 is a common cause of familial parkinsonism. 2002 Valente, Em; Brancati, Francesco; Caputo, V; Graham, Ea; Davis, Mb; Ferraris, A; Breteler, Mm; Gasser, T; Bonifati, V; Bentivoglio, Ar; De Michele, G; Dürr, A; Cortelli, P; Filla, A; Meco, G; Oostra, Ba; Brice, A; Albanese, A; Dallapiccola, B; Wood, Nw; European Consortium on Genetic Susceptibility in Parkinson's, Disease
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 2003 Valente, Em; Salpietro, Dc; Brancati, Francesco; Bertini, E; Galluccio, T; Tortorella, G; Briuglia, S; Dallapiccola, B.
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 2003 Brancati, Francesco; Valente, Em; Castori, M; Vanacore, N; Sessa, M; Galardi, G; Berardelli, A; Bentivoglio, Ar; Defazio, G; Girlanda, P; Abbruzzese, G; Albanese, A; Dallapiccola, B; ITALIAN MOVEMENT DISORDER STUDY, Group
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 2003 Brancati, Francesco; Valente, Em; Tadini, G; Caputo, V; DI BENEDETTO, A; Gelmetti, C; Dallapiccola, B.
Recurrent triploidy of maternal origin. 2003 Brancati, Francesco; Mingarelli, R; Dallapiccola, B.
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 2003 Brancati, Francesco; Valente, Em; Davies, Np; Sarkozy, A; Sweeney, Mg; Lomonaco, M; Pizzuti, A; Hanna, Mg; Dallapiccola, B.
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 2003 Defazio, G; Brancati, Francesco; Valente, Em; Caputo, V; Pizzuti, A; Martino, D; Abbruzzese, G; Livrea, P; Berardelli, A; Dallapiccola, B.
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 2003 Valente, Em; Misbahuddin, A; Brancati, Francesco; Placzek, Mr; Garavaglia, B; Salvi, S; Nemeth, A; SHAW SMITH, C; Nardocci, N; Bentivoglio, Ar; Berardelli, A; Eleopra, R; Dallapiccola, B; Warner, Tt
Ablepharon-macrostomia syndrome in a 46-year-old woman. 2004 Brancati, Francesco; Mingarelli, R; Sarkozy, A; Dallapiccola, B.
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 2004 Brancati, Francesco; Valente, Em; Sarkozy, A; Feher, J; Castori, M; DEL DUCA, P; Mingarelli, R; Pizzuti, A; Dallapiccola, B.
KBG syndrome in a cohort of Italian patients. 2004 Brancati, Francesco; D'Avanzo, Mg; Digilio, Mc; Sarkozy, A; Biondi, M; DE BRASI, D; Mingarelli, R; Dallapiccola, B.
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 2004 Casali, C; Valente, Em; Bertini, E; Montagna, G; Criscuolo, C; DE MICHELE, G; Villanova, M; Damiano, M; Pierallini, A; Brancati, Francesco; Scarano, V; Tessa, A; Cricchi, F; Grieco, Gs; Muglia, M; Carella, M; Martini, B; Rossi, A; Amabile, Ga; Nappi, G; Filla, A; Dallapiccola, B; Santorelli, Fm
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. 2005 Brancati, Francesco; Castori, M; Mingarelli, R; Dallapiccola, B.
A novel family with an unusual early onset generalized dystonia. 2005 Fabbrini, G; Brancati, Francesco; Vacca, L; Valente, Em; Nemeth, A; Meesaq, A; Sykes, N; Dallapiccola, B; Berardelli, A.
Mostrati risultati da 1 a 20 di 115
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