BRANCATI, Francesco

BRANCATI, Francesco  

DIPARTIMENTO DI SCIENZE MEDICHE, ORALI E BIOTECNOLOGICHE  

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A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 2009 Dentici, M. L.; Brancati, Francesco; Mingarelli, R.; Dallapiccola, B.
A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. 2013 Schanze, D; Harakalova, M; Stevens, Ca; Brancati, Francesco; Dallapiccola, B; Farndon, P; Ferraz, Ve; McDonald McGinn, Dm; Zackai, Eh; Wright, M; van Lieshout, S; Vogel, Mj; van Haelst, Mm; Zenker, M.
A family study on primary blepharospasm. 2006 Defazio, G; Martino, D; Aniello, Ms; Masi, G; Abbruzzese, G; Lamberti, S; Valente, Em; Brancati, Francesco; Livrea, P; Berardelli, A.
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.
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.
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. 2010 Sinibaldi, L.; Harifi, G.; Bottillo, I.; Iannicelli, M.; Hassani, S. E.; Brancati, Francesco; Dallapiccola, B.
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 2014 Farhan, Sali M. K.; Robinson, John F.; Mcintyre, Adam D.; Marrosu, Maria G.; Ticca, Anna F.; Loddo, Sara; Carboni, Nicola; Brancati, Francesco; Hegele, Robert A.
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 2005 Castori, M; Valente, Em; Clementi, M; Tormene, Ap; Brancati, Francesco; Caputo, V; Dallapiccola, B.
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 2007 Castori, M; Brancati, Francesco; Mingarelli, R; Mundlos, S; Dallapiccola, B.
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.
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 2013 Schanze, Denny; Harakalova, Magdalena; Stevens, Cathy A.; Brancati, Francesco; Dallapiccola, Bruno; Farndon, Peter; Ferraz, Victor E. F.; Mcdonald Mcginn, Donna M.; Zackai, Elaine H.; Wright, Michael; van Lieshout, Stef; Vogel, Maartje J.; van Haelst, Mieke M.; Zenker, Martin
Ablepharon-macrostomia syndrome in a 46-year-old woman. 2004 Brancati, Francesco; Mingarelli, R; Sarkozy, A; Dallapiccola, B.
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 2008 Brancati, Francesco; Garaci, Fg; Mingarelli, R; Dallapiccola, B.
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.
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 2006 Valente, Em; Brancati, Francesco; Silhavy, Jl; Castori, M; Marsh, Se; Barrano, G; Bertini, E; Boltshauser, E; Zaki, Ms; ABDEL ALEEM, A; ABDEL SALAM, Gmh; Bellacchio, E; Battini, R; Cruse, Rp; Dobyns, Wb; Krishnamoorthy, Ks; LAGIER TOURENNE, C; Magee, A; PASCUAL CASTROVIEJO, I; Salpietro, Cd; Sarco, D; Dallapiccola, B; Gleeson, Jg
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 2010 C. M., Louie; G., Caridi; V. S., Lopes; Brancati, Francesco; A., Kispert; M. A., Lancaster; A. M., Schlossman; E. A., Otto; M., Leitges; H., Gröne; I., Lopez; H. V., Gudiseva; J. F., O'Toole; E., Vallespin; R., Ayyagari; C., Ayuso; F. P., M.; A. I., Den; R. K., Koenekoop; B., Dallapiccola; G. M., Ghiggeri; F., Hildebrandt; E. M., Valente; D. S., Williams; J. G., Gleeson
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
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 2006 Castori, M; Brancati, Francesco; Rinaldi, R; Adami, L; Mingarelli, R; Grammatico, P; Dallapiccola, B.
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 2007 Clarimon, J; Brancati, Francesco; Peckham, E; Valente, Em; Dallapiccola, B; Abruzzese, G; Girlanda, P; Defazio, G; Berardelli, A; Hallett, M; Singleton, Ab
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.