11573/1747605 - 2025 -
Expanding the mutational spectrum of ReNU syndrome: insights into 5’ Stem-loop variants Bruselles, Alessandro; Mancini, Cecilia; Chiriatti, Luigi; Carvetta, Mattia; Baroni, Maria Chiara; Cappelletti, Camilla; Caraffi, Stefano Giuseppe; Celario, Massimiliano; Ciolfi, Andrea; Cordeddu, Viviana; De Falco, Alessandro; Ferilli, Marco; Garavelli, Livia; Leoni, Chiara; Meossi, Camilla; Niceta, Marcello; Onesimo, Roberta; Peluso, Francesca; Politano, Davide; Priolo, Manuela; Radio, Francesca Clementina; Santorelli, Filippo; Signorini, Sabrina; Sirchia, Fabio; Valente, Enza Maria; Zampino, Giuseppe; Tartaglia, Marco - 01a Articolo in rivista
paper: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW
-S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 432-440 - issn: 1018-4813 - wos: WOS:001433261800001 (4) - scopus: 2-s2.0-85218734457 (4)
11573/1747602 - 2025 -
The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies Chiriatti, Luigi; Priolo, Manuela; Onesimo, Roberta; Carvetta, Mattia; Leoni, Chiara; Bruselles, Alessandro; Radio, Francesca Clementina; Cappelletti, Camilla; Ferilli, Marco; Ricci, Daniela; Niceta, Marcello; Cordeddu, Viviana; Ciolfi, Andrea; Mancini, Cecilia; Zampino, Giuseppe; Tartaglia, Marco - 01a Articolo in rivista
paper: GENES (Basel : Molecular Diversity Preservation International) pp. - - issn: 2073-4425 - wos: WOS:001429755400001 (0) - scopus: 2-s2.0-85218914202 (0)
11573/1753789 - 2025 -
Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa Cordeddu, Viviana; Flex, Elisabetta; Mignini, Luca; Bruselles, Alessandro; Cecchetti, Serena; Messina, Elena; Arasi, Maria Beatrice; Carvetta, Mattia; Straface, Emilio; Leone, Alessandro; Guadagnolo, Daniele; D'asdia, Maria Cecilia; Nebbioso, Marcella; Bellacchio, Emanuele; Dell'aquila, Carmen; Ziccardi, Lucia; Pizzuti, Antonio; De Luca, Alessandro; Tartaglia, Marco - 01a Articolo in rivista
paper: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. - - issn: 1422-0067 - wos: WOS:001569781500001 (0) - scopus: 2-s2.0-105015895098 (0)
11573/1753790 - 2025 -
The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles Mancini, Cecilia; Chiriatti, Luigi; Bruselles, Alessandro; D'ambrosio, Paola; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Carvetta, Mattia; Radio, Francesca Clementina; Cordeddu, Viviana; Niceta, Marcello; Parrino, Marta; Capolino, Rossella; Mammì, Corrado; Senese, Rossana; Muto, Mario; Priolo, Manuela; Tartaglia, Marco - 01a Articolo in rivista
paper: GENES (Basel : Molecular Diversity Preservation International) pp. - - issn: 2073-4425 - wos: WOS:001601574700001 (0) - scopus: 2-s2.0-105020062407 (0)
11573/1753788 - 2025 -
Chemosensor receptors are lipid-detecting regulators of macrophage function in cancer Marelli, Giulia; Morina, Nicolò; Puccio, Simone; Iovino, Marta; Pandini, Marta; Portale, Federica; Carvetta, Mattia; Mishra, Divya; Diana, Elisabetta; Meregalli, Greta; Paraboschi, Elvezia; Cibella, Javier; Peano, Clelia; Basso, Gianluca; De Simone, Gabriele; Camisaschi, Chiara; Magrini, Elena; Sartori, Giulio; Karimi, Elham; Colombo, Piergiuseppe; Lazzeri, Massimo; Casale, Paolo; Morosi, Lavinia; Martano, Giuseppe; Asselta, Rosanna; Bonavita, Eduardo; Matsunami, Hiro; Bertoni, Francesco; Walsh, Logan; Lugli, Enrico; Di Mitri, Diletta - 01a Articolo in rivista
paper: NATURE IMMUNOLOGY (Nature America Incorporated:345 Park Avenue South, 6th Floor:New York, NY 10010:(888)331-6288, EMAIL: institutions@natureny.com, INTERNET: http://www.nature.com, Fax: (212)689-9108) pp. 1182-1197 - issn: 1529-2908 - wos: WOS:001520520700019 (1) - scopus: 2-s2.0-105009549452 (2)
11573/1753782 - 2025 -
Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in POMGNT1 Ziccardi, Lucia; Barbano, Lucilla; D'andrea, Mattia; Bruselles, Alessandro; Dell'aquila, Carmen; Niceta, Marcello; Mancini, Cecilia; Leone, Alessandro; Carvetta, Mattia; Albanese, Maria; Stellacci, Emilia; Tartaglia, Marco; Cordeddu, Viviana - 01a Articolo in rivista
paper: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. - - issn: 1422-0067 - wos: WOS:001463842900001 (0) - scopus: 2-s2.0-105002299701 (0)
11573/1729211 - 2024 -
Whole Genome Sequencing Solves an Atypical Form of Bardet–Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9 Stellacci, Emilia; Niceta, Marcello; Bruselles, Alessandro; Straface, Emilio; Tatti, Massimo; Carvetta, Mattia; Mancini, Cecilia; Cecchetti, Serena; Parravano, Mariacristina; Barbano, Lucilla; Varano, Monica; Tartaglia, Marco; Ziccardi, Lucia; Cordeddu, Viviana - 01a Articolo in rivista
paper: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. 1-13 - issn: 1422-0067 - wos: WOS:001287870600001 (0) - scopus: 2-s2.0-85200892102 (0)