BRANCATI, Francesco

BRANCATI, Francesco  

Dipartimento di Medicina clinica, sanità pubblica, scienze della vita e dell'ambiente  

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A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 1-gen-2009 Dentici, Ml; Brancati, Francesco; Mingarelli, R; Dallapiccola, B
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 1-gen-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. 1-gen-2004 Brancati, F.; R, Mingarelli; A, Sarkozy; B, Dallapiccola
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 1-gen-2008 Brancati, F.; Fg, Garaci; R, Mingarelli; B, Dallapiccola
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 1-gen-2000 Semprini, S; Mango, R; Brancati, F; Dallapiccola, B; Becherini, L; Novelli, G; De Lorenzo, A; Brandi, Ml; Gennari, L.
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 1-gen-2006 Em, Valente; Brancati, F.; Jl, Silhavy; M, Castori; Se, Marsh; G, Barrano; E, Bertini; E, Boltshauser; Ms, Zaki; A, ABDEL-ALEEM; Gmh, ABDEL-SALAM; E, Bellacchio; R, Battini; Rp, Cruse; Wb, Dobyns; Ks, Krishnamoorthy; C, LAGIER-TOURENNE; A, Magee; I, PASCUAL-CASTROVIEJO; Cd, Salpietro; D, Sarco; B, Dallapiccola; Jg, Gleeson
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 1-gen-2010 Cm, Louie; G, Caridi; Vs, Lopes; Brancati, Francesco; A, Kispert; Ma, Lancaster; Am, Schlossman; Ea, Otto; M, Leitges; H, Gröne; I, Lopez; Hv, Gudiseva; Jf, O'Toole; E, Vallespin; R, Ayyagari; C, Ayuso; Fp, M; Ai, Den; Rk, Koenekoop; B, Dallapiccola; Gm, Ghiggeri; F, Hildebrandt; Em, Valente; Ds, Williams; Jg, Gleeson
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 1-gen-2003 Em, Valente; A, Misbahuddin; Brancati, F.; Mr, Placzek; B, Garavaglia; S, Salvi; A, Nemeth; C, SHAW-SMITH; N, Nardocci; Ar, Bentivoglio; A, Berardelli; R, Eleopra; B, Dallapiccola; Tt, Warner
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 1-gen-2006 M, Castori; Brancati, F.; R, Rinaldi; L, Adami; R, Mingarelli; P, Grammatico; B, Dallapiccola
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 1-gen-2007 J, Clarimon; Brancati, F.; E, Peckham; Em, Valente; B, Dallapiccola; G, Abruzzese; P, Girlanda; G, Defazio; A, Berardelli; M, Hallett; Ab, Singleton
Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry 1-gen-2017 Cesareo, Massimo; Ciuffoletti, Elena; Martucci, Alessio; Sebastiani, Jacopo; Sorge, Roberto Pietro; Lamantea, Eleonora; Garavaglia, Barbara; Ricci, Federico; Cusumano, Andrea; Nucci, Carlo; Brancati, Francesco
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 1-gen-2003 Brancati, F.; Em, Valente; G, Tadini; V, Caputo; A, DI BENEDETTO; C, Gelmetti; B, Dallapiccola
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View 1-gen-2017 De Maria, Beatrice; De Jager, Tresia; Sarubbi, Caitlin; Bartsch, Oliver; Bianchi, Alberto; Brancati, Francesco; Chung, Hon-Yin B.; David, Albert; Kariminejad, Ariana; Foresti, Maura; Gallottini, Marina; Isidor, Bertrand; Marchegiani, Shannon; Martins, Fabiana; Mazzanti, Laura; Roche, Nathalie; Singh, Ankur; Stevens, Cathy; Suga, Kenichi; Zenker, Martin; Hennekam, Raoul C.
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 1-gen-2012 Zampatti, S; Castori, M; Fischer, B; Ferrari, P; Garavelli, L; Dionisi-Vici, C; Agolini, E; Wischmeijer, A; Morava, E; Novelli, G; Häberle, J; Kornak, U; Brancati, F
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome 1-gen-2018 Brancati, Francesco; Camerota, Letizia; Colao, Emma; Vega-Warner, Virginia; Zhao, Xiangzhong; Zhang, Ruixiao; Bottillo, Irene; Castori, Marco; Caglioti, Alfredo; Sangiuolo, Federica; Novelli, Giuseppe; Perrotti, Nicola; Otto, Edgar A.; Taruscio, Domenica; Salvatore, Marco; De Stefano, Maria Chiara; Censi, Federica; Floridia, Giovanna; Brancati, Francesco; Daina, Erica; Iatropoulos, Paraskevas; Ferlini, Alessandra; Roccatello, Dario; Baldovino, Simone; Menegatti, Elisa; Bembi, Bruno
The Birt-Hogg-Dubé Syndrome: A Clinical Diagnostic Challenge 1-gen-2021 Divisi, Duilio; Zaccagna, Gino; DE VICO, Andrea; Brancati, Francesco; Imbriglio, Giovanna; Crisci, Roberto
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 1-gen-2007 Brancati, F.; G, Barrano; Jl, Silhavy; Se, Marsh; L, Travaglini; Sl, Bielas; M, Amorini; D, Zablocka; H, Kayserili; L, AL-GAZALI; E, Bertini; E, Boltshauser; M, D'Hooghe; E, Fazzi; Ey, Fenerci; Rc, Hennekam; A, Kiss; Mm, Lees; E, Marco; Sr, Phadke; L, Rigoli; S, Romano; Cd, Salpietro; Eh, Sherr; S, Signorini; P, Stromme; B, Stuart; L, Sztriha; Dh, Viskochil; A, Yuksel; B, Dallapiccola; Em, Valente; Jg, Gleeson
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 1-gen-2012 Lee, Je; Silhavy, Jl; Zaki, Ms; Schroth, J; Bielas, Sl; Marsh, Se; Olvera, J; Brancati, F; Iannicelli, M; Ikegami, K; Schlossman, Am; Merriman, B; Attié-Bitach, T; Logan, Cv; Glass, Ia; Cluckey, A; Louie, Cm; Lee, Jh; Raynes, Hr; Rapin, I; Castroviejo, Ip; Setou, M; Barbot, C; Boltshauser, E; Nelson, Sf; Hildebrandt, F; Johnson, Ca; Doherty, Da; Valente, Em; Gleeson, Jg
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. 1-gen-2012 Brancati, Francesco
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 1-gen-2015 Garaci, Francesco; Marsili, Luisa; Riant, Florence; Marziali, Simone; Cécillon, Michaelle; Pasquarelli, Roberto; Sangiuolo, Federica; Floris, Roberto; Novelli, Giuseppe; Tournier-Lasserve, Elisabeth; Brancati, Francesco