Certifications of critical systems: the CECRIS experience

por Bondavalli, Andrea, Brancati, Francesco
Publicado 2017

KBG syndrome

por Brancati, Francesco, Sarkozy, Anna, Dallapiccola, Bruno
Publicado 2006

Joubert Syndrome and related disorders

por Brancati, Francesco, Dallapiccola, Bruno, Valente, Enza Maria
Publicado 2010

Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome

por Tamburrini, Alessandro, Sellitri, Francesco, Tacconi, Federico, Brancati, Francesco, Mineo, Tommaso Claudio
Publicado 2015

p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis

por Mollo, Maria Rosaria, Antonini, Dario, Mitchell, Karen, Fortugno, Paola, Costanzo, Antonio, Dixon, Jill, Brancati, Francesco, Missero, Caterina
Publicado 2015

Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset

por Rossetti, Raffaella, Moleri, Silvia, Guizzardi, Fabiana, Gentilini, Davide, Libera, Laura, Marozzi, Anna, Moretti, Costanzo, Brancati, Francesco, Bonomi, Marco, Persani, Luca
Publicado 2021

Kinematic and Diffusion Tensor Imaging Definition of Familial Marcus Gunn Jaw-Winking Synkinesis

por Conte, Antonella, Brancati, Francesco, Garaci, Francesco, Toschi, Nicola, Bologna, Matteo, Fabbrini, Giovanni, Falla, Marika, Dallapiccola, Bruno, Bollero, Patrizio, Floris, Roberto, Berardelli, Alfredo
Publicado 2012

Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry

por Cesareo, Massimo, Ciuffoletti, Elena, Martucci, Alessio, Sebastiani, Jacopo, Sorge, Roberto Pietro, Lamantea, Eleonora, Garavaglia, Barbara, Ricci, Federico, Cusumano, Andrea, Nucci, Carlo, Brancati, Francesco
Publicado 2017

De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver

por Rapini, Novella, Lidano, Roberta, Pietrosanti, Silvia, Vitiello, Giuseppina, Grimaldi, Chiara, Postorivo, Diana, Nardone, Anna Maria, Del Bufalo, Francesca, Brancati, Francesco, Manca Bitti, Maria Luisa
Publicado 2014

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

por Camerota, Letizia, Ritelli, Marco, Wischmeijer, Anita, Majore, Silvia, Cinquina, Valeria, Fortugno, Paola, Monetta, Rosanna, Gigante, Laura, Sangiuolo, Federica Carla, Novelli, Giuseppe, Colombi, Marina, Brancati, Francesco
Publicado 2019

Analysis of BMP15-Induced Transcriptome in Human Granulosa Cells for the Identification of Novel Candidate Genes for Primary Ovarian Insufficiency

por Rossetti, Raffaella, Fornili, Marco, Moleri, Silvia, Ferrari, Ilaria, Gentilini, Davide, Paffoni, Alessio, Somigliana, Edgardo, Biganzoli, Elia, Marozzi, Anna, Brancati, Francesco, Moretti, Costanzo G, Giuliani, Cristina, Persani, Luca
Publicado 2021

Measles skin rash: Infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis

por Laksono, Brigitta M., Fortugno, Paola, Nijmeijer, Bernadien M., de Vries, Rory D., Cordisco, Sonia, Kuiken, Thijs, Geijtenbeek, Teunis B. H., Duprex, W. Paul, Brancati, Francesco, de Swart, Rik L.
Publicado 2020

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

por Hirsch, Naama, Dahan, Idit, D'haene, Eva, Avni, Matan, Vergult, Sarah, Vidal-García, Marta, Magini, Pamela, Graziano, Claudio, Severi, Giulia, Bonora, Elena, Nardone, Anna Maria, Brancati, Francesco, Fernández-Jaén, Alberto, Rory, Olson J., Hallgrímsson, Benedikt, Birnbaum, Ramon Y.
Publicado 2022

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

por Laboy Cintron, Dianne, Muir, Alison M., Scott, Abbey, McDonald, Marie, Monaghan, Kristin G., Santiago-Sim, Teresa, Wentzensen, Ingrid M., De Luca, Chiara, Brancati, Francesco, Harris, David J., Goueli, Cecilia, Stottmann, Rolf, Prada, Carlos E., Biderman Waberski, Marta, Mefford, Heather C.
Publicado 2021

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

por 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.
Publicado 2015

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

por Salvatore, Marco, Polizzi, Agata, De Stefano, Maria Chiara, Floridia, Giovanna, Baldovino, Simone, Roccatello, Dario, Sciascia, Savino, Menegatti, Elisa, Remuzzi, Giuseppe, Daina, Erica, Iatropoulos, Paraskevas, Bembi, Bruno, Da Riol, Rosalia Maria, Ferlini, Alessandra, Neri, Marcella, Novelli, Giuseppe, Sangiuolo, Federica, Brancati, Francesco, Taruscio, Domenica
Publicado 2020

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

por Bigoni, Stefania, Neri, Marcella, Scotton, Chiara, Farina, Roberto, Sabatelli, Patrizia, Jiang, Chongyi, Zhang, Jianguo, Falzarano, Maria Sofia, Rossi, Rachele, Ognibene, Davide, Selvatici, Rita, Gualandi, Francesca, Bosshardt, Dieter, Perri, Paolo, Campa, Claudio, Brancati, Francesco, Salvatore, Marco, De Stefano, Maria Chiara, Taruscio, Domenica, Trombelli, Leonardo, Fang, Mingyan, Ferlini, Alessandra
Publicado 2019

Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

por Dardis, Andrea, Zampieri, Stefania, Gellera, Cinzia, Carrozzo, Rosalba, Cattarossi, Silvia, Peruzzo, Paolo, Dariol, Rosalia, Sechi, Annalisa, Deodato, Federica, Caccia, Claudio, Verrigni, Daniela, Gasperini, Serena, Fiumara, Agata, Fecarotta, Simona, Carecchio, Miryam, Filosto, Massimiliano, Santoro, Lucia, Borroni, Barbara, Bordugo, Andrea, Brancati, Francesco, Russo, Cinzia V., Di Rocco, Maja, Toscano, Antonio, Scarpa, Maurizio, Bembi, Bruno
Publicado 2020

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

por Guida, Valentina, Calzari, Luciano, Fadda, Maria Teresa, Piceci-Sparascio, Francesca, Digilio, Maria Cristina, Bernardini, Laura, Brancati, Francesco, Mattina, Teresa, Melis, Daniela, Forzano, Francesca, Briuglia, Silvana, Mazza, Tommaso, Bianca, Sebastiano, Valente, Enza Maria, Salehi, Leila Bagherjad, Prontera, Paolo, Pagnoni, Mario, Tenconi, Romano, Dallapiccola, Bruno, Iannetti, Giorgio, Corsaro, Luigi, De Luca, Alessandro, Gentilini, Davide
Publicado 2021

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

por Poretti, Andrea, Vitiello, Giuseppina, Hennekam, Raoul CM, Arrigoni, Filippo, Bertini, Enrico, Borgatti, Renato, Brancati, Francesco, D'Arrigo, Stefano, Faravelli, Francesca, Giordano, Lucio, Huisman, Thierry AGM, Iannicelli, Miriam, Kluger, Gerhard, Kyllerman, Marten, Landgren, Magnus, Lees, Melissa M, Pinelli, Lorenzo, Romaniello, Romina, Scheer, Ianina, Schwarz, Christoph E, Spiegel, Ronen, Tibussek, Daniel, Valente, Enza Maria, Boltshauser, Eugen
Publicado 2012