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Titolo Data di pubblicazione Autore(i) File
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 1-gen-2015 Nuovo, S; Passeri, M; Di Benedetto, E; Calanchini, M; Meldolesi, I; Di Giacomo, M C; Petruzzi, D; Piemontese, M R; Zelante, L; Sangiuolo, F; Novelli, G; Fabbri, A; Brancati, F
Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives 1-gen-2015 Ghibellini, Giulia; Brancati, Francesco; Castori, Marco
Quantitative ultrasound at the phalanges in a cohort of monozygotic twins of different ages 1-gen-2015 Brancati, Francesco
Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome 1-gen-2015 Tamburrini, Alessandro; Sellitri, Francesco; Tacconi, Federico; Brancati, Francesco; Mineo Tommaso, Claudio
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes 1-gen-2015 Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; Van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara; Schanze, Denny; Venselaar, Hanka; Vulto-Van Silfhout Anneke, T.; Wolfe Lynne, A.; Tifft Cynthia, J.; Zerfas Patricia, M.; Zambruno, Giovanna; Kariminejad, Ariana; Sabbagh-Kermani, Farahnaz; Lee, Janice; Tsokos Maria, G.; Lee Chyi-Chia, R.; Ferraz, Victor; Da Silva Eduarda, Morgana; Stevens Cathy, A.; Roche, Nathalie; Bartsch, Oliver; Farndon, Peter; Bermejo-Sanchez, Eva; Brooks Brian, P.; Maduro, Valerie; Dallapiccola, Bruno; Ramos Feliciano, J.; Chung Hon-Yin, Brian; Le Caignec, Cédric; Martins, Fabiana; Jacyk Witold, K.; Mazzanti, Laura; Brunner Han, G.; Bakkers, Jeroen; Lin, Shuo; Malicdan May Christine, V.; Boerkoel Cornelius, F.; Gahl William, A.; De Vries Bert, B. A.; Van Haelst Mieke, M.; Zenker, Martin; Markello Thomas, C.
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome with Variable Cardiac Anomalies 1-gen-2015 Southgate, Laura; Sukalo, Maja; Karountzos Anastasios, S. V.; Taylor Edward, J.; Collinson Claire, S.; Ruddy, Deborah; Snape Katie, M.; Dallapiccola, Bruno; Tolmie John, L.; Joss, Shelagh; Brancati, Francesco; Digilio Maria, Cristina; Graul-Neumann Luitgard, M.; Salviati, Leonardo; Coerdt, Wiltrud; Jacquemin, Emmanuel; Wuyts, Wim; Zenker, Martin; Machado Rajiv, D.; Trembath Richard, C
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions 1-gen-2015 Lupiáñez, Dg; Kraft, K; Heinrich, V; Krawitz, P; Brancati, F; Klopocki, E; Horn, D; Kayserili, H; Opitz, Jm; Laxova, R; Santos-Simarro, F; Gilbert-Dussardier, B; Wittler, L; Borschiwer, M; Haas, Sa; Osterwalder, M; Franke, M; Timmermann, B; Hecht, J; Spielmann, M; Visel, A; Mundlos, S
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome 1-gen-2015 Walz, Katherina; Cohen, Devon; Neilsen, Paul M.; Foster, Joseph; Brancati, Francesco; Demir, Korcan; Fisher, Richard; Moffat, Michelle; Verbeek, Nienke E.; Bjørgo, Kathrine; Lo Castro, Adriana; Curatolo, Paolo; Novelli, Giuseppe; Abad, Clemer; Lei, Cao; Zhang, Lily; Diaz Horta, Oscar; Young, Juan I.; Callen, David F.; Tekin, Mustafa
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 1-gen-2015 Ruggieri, Alessandra; Brancati, Francesco; Zanotti, Simona; Maggi, Lorenzo; Pasanisi, Maria Barbara; Saredi, Simona; Terracciano, Chiara; Antozzi, Carlo; D. Apice, Maria Rosaria; Sangiuolo, Federica; Novelli, Giuseppe; Marshall, Christian R; Scherer, Stephen W; Morandi, Lucia; Federici, Luca; Massa, Roberto; Mora, Marina; Minassian, Berge A.
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development 1-gen-2015 Whitman Mary, C; Andrews, Caroline; Chan, Wai-Man; Tischfield Max, A; Stasheff Steven, F; Brancati, Francesco; Ortiz-Gonzalez, Xilma; Nuovo, Sara; Garaci, Francesco; Mackinnon Sarah, E; Hunter David, G; Grant, P Ellen; Engle Elizabeth, C
Mutations in the NHEJ component XRCC4 cause primordial dwarfism 1-gen-2015 Murray Jennie, E; Van Der Burg, Mirjam; Ijspeert, Hanna; Carroll, Paula; Wu, Qian; Ochi, Takashi; Leitch, Andrea; Miller Edward, S.; Kysela, Boris; Jawad, Alireza; Bottani, Armand; Brancati, Francesco; Cappa, Marco; Cormier-Daire, Valerie; Deshpande, Charu; Faqeih Eissa, A.; Graham Gail, E.; Ranza, Emmanuelle; Blundell Tom, L.; Jackson Andrew, P.; Stewart Grant, S.; Bicknell Louise, S.
Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases 1-gen-2015 Spitalieri, Paola; Talarico Rosa, V.; Botta, Annalisa; Murdocca, Michela; D'Apice Maria, Rosaria; Orlandi, Augusto; Giardina, Emiliano; Santoro, Massimo; Brancati, Francesco; Novelli, Giuseppe; Sangiuolo, Federica
Formation of new chromatin domains determines pathogenicity of genomic duplications 1-gen-2016 Franke, Martin; Ibrahim, Daniel M.; Andrey, Guillaume; Schwarzer, Wibke; Heinrich, Verena; Schöpflin, Robert; Kraft, Katerina; Kempfer, Rieke; Jerković, Ivana; Chan, Wing Lee; Spielmann, Malte; Timmermann, Bernd; Wittler, Lars; Kurth, Ingo; Cambiaso, Paola; Zuffardi, Orsetta; Houge, Gunnar; Lambie, Lindsay; Brancati, Francesco; Pombo, Ana; Vingron, Martin; Spitz, Francois; Mundlos, Stefan
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations 1-gen-2016 Romanello, Milena; Zampieri, Stefania; Bortolotti, Nadia; Deroma, Laura; Sechi, Annalisa; Fiumara, Agata; Parini, Rossella; Borroni, Barbara; Brancati, Francesco; Bruni, Amalia; Russo, Cinzia V.; Bordugo, Andrea; Bembi, Bruno; Dardis, Andrea
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.
Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles 1-gen-2017 Botta, Annalisa; Rossi, Giulia; Marcaurelio, Marzia; Fontana, Luana; D'Apice, Maria Rosaria; Brancati, Francesco; Massa, Roberto; G. Monckton, Darren; Sangiuolo, Federica; Novelli, Giuseppe
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 1-gen-2017 Travaglini, Lorena; Aiello, Chiara; Alesi, Viola; Loddo, Sara; Novelli, Antonio; Tozzi, Giulia; Bertini, Enrico; Leuzzi, Vincenzo; Brancati, Francesco
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 1-gen-2017 Lanzolla, Giulia; Vancieri, Giuseppe; Lanciotti, Silvia; Sangiuolo, Federica; Menegatti, Elisa; Federici, Luca; Moretti, Costanzo; Brancati, Francesco
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
A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype 1-gen-2018 Camerota, Letizia; Pitzianti, Mariabernarda; Postorivo, Diana; Nardone, Anna M.; Ligas, Claudio; Moretti, Costanzo; Pasini, Augusto; Brancati, Francesco
Mostrati risultati da 101 a 120 di 166
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