Joubert Syndrome and related disorders

le Brancati Francesco, Dallapiccola Bruno, Valente Enza
Foilsithe 2010-07-01

KBG syndrome

le Brancati, Francesco, Sarkozy, Anna, Dallapiccola, Bruno
Foilsithe 2006

Joubert Syndrome and related disorders

le Brancati, Francesco, Dallapiccola, Bruno, Valente, Enza Maria
Foilsithe 2010

Clinical utility gene card for: Joubert syndrome

le Valente, Enza Maria, Brancati, Francesco, Boltshauser, Eugen, Dallapiccola, Bruno
Foilsithe 2011

Clinical utility gene card for: Joubert Syndrome - update 2013

le Valente, Enza Maria, Brancati, Francesco, Boltshauser, Eugen, Dallapiccola, Bruno
Foilsithe 2013

Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome

le Tamburrini, Alessandro, Sellitri, Francesco, Tacconi, Federico, Brancati, Francesco, Mineo, Tommaso Claudio
Foilsithe in Case Rep Surg (2015)

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

le Mollo, Maria Rosaria, Antonini, Dario, Mitchell, Karen, Fortugno, Paola, Costanzo, Antonio, Dixon, Jill, Brancati, Francesco, Missero, Caterina
Foilsithe in Exp Dermatol (2015)

Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation

le Valente, Enza Maria, Salpietro, Damiano Carmelo, Brancati, Francesco, Bertini, Enrico, Galluccio, Tiziana, Tortorella, Gaetano, Briuglia, Silvana, Dallapiccola, Bruno
Foilsithe 2003

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

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

Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene

le Garaci, Francesco, Marsili, Luisa, Riant, Florence, Marziali, Simone, Cécillon, Michaelle, Pasquarelli, Roberto, Sangiuolo, Federica, Floris, Roberto, Novelli, Giuseppe, Tournier-Lasserve, Elisabeth, Brancati, Francesco
Foilsithe in Neuroradiol J (2015)

Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

le Botta, Annalisa, Rossi, Giulia, Marcaurelio, Marzia, Fontana, Luana, D'Apice, Maria Rosaria, Brancati, Francesco, Massa, Roberto, G Monckton, Darren, Sangiuolo, Federica, Novelli, Giuseppe
Foilsithe in Eur J Hum Genet (2017)

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

le Cesareo, Massimo, Ciuffoletti, Elena, Martucci, Alessio, Sebastiani, Jacopo, Sorge, Roberto Pietro, Lamantea, Eleonora, Garavaglia, Barbara, Ricci, Federico, Cusumano, Andrea, Nucci, Carlo, Brancati, Francesco
Foilsithe in PLoS One (2017)

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

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

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

le 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
Foilsithe in Genes (Basel) (2019)

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

le 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
Foilsithe in J Endocr Soc (2021)

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

le 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.
Foilsithe in Eur J Hum Genet (2018)

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

le 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.
Foilsithe in PLoS Pathog (2020)

RPGRIP1L mutations are mainly associated with the cerebellorenal phenotype of Joubert Syndrome Related Disorders

le Brancati, Francesco, Travaglini, Lorena, Zablocka, Dominika, Boltshauser, Eugen, Accorsi, Patrizia, Montagna, Giorgia, Silhavy, Jennifer L., Barrano, Giuseppe, Bertini, Enrico, Emma, Francesco, Rigoli, Luciana, Dallapiccola, Bruno, Gleeson, Joseph G, Valente, Enza Maria
Foilsithe 2008

The TOR1A Polymorphism rs1182 and the Risk of Spread in Primary Blepharospasm

le Defazio, Giovanni, Matarin, Mar, Peckham, Elizabeth L., Martino, Davide, Valente, Enza M., Singleton, Andrew, Crawley, Anthony, Aniello, Maria Stella, Brancati, Francesco, Abbruzzese, Giovanni, Girlanda, Paolo, Livrea, Paolo, Hallett, Mark, Berardelli, Alfredo
Foilsithe 2009

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

le Sirmaci, Asli, Spiliopoulos, Michail, Brancati, Francesco, Powell, Eric, Duman, Duygu, Abrams, Alex, Bademci, Guney, Agolini, Emanuele, Guo, Shengru, Konuk, Berrin, Kavaz, Asli, Blanton, Susan, Digilio, Maria Christina, Dallapiccola, Bruno, Young, Juan, Zuchner, Stephan, Tekin, Mustafa
Foilsithe 2011