FABRETTO, ANTONELLA
FABRETTO, ANTONELLA
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference
2018-01-01 Trimouille, Aurélien; Houcinat, Nada; Vuillaume, Marie-Laure; Fergelot, Patricia; Boucher, Cécile; Toutain, Jérôme; Caignec, Cédric Le; Vincent, Marie; Nizon, Mathilde; Andrieux, Joris; Vanlerberghe, Clémence; Delobel, Bruno; Duban, Bénédicte; Mansour, Sahar; Baple, Emma; Mckeown, Colina; Poke, Gemma; Robertshaw, Kate; Fifield, Eve; Fabretto, Antonella; Pecile, Vanna; Gasparini, Paolo; Carrozzi, Marco; Lacombe, Didier; Arveiler, Benoît; Rooryck, Caroline; Moutton, Sébastien
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation
2010-01-01 Fabretto, Antonella; Shardlow, Alison; Faletra, Flavio; Lepore, Loredana; Hladnik, Uros; Gasparini, Paolo
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature
2011-01-01 Faletra, Flavio; Devescovi, Raffaella; Pecile, Vanna; Fabretto, Antonella; Carrozzi, Marco; Gasparini, Paolo
A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome
2018-01-01 Mazzon, G.; Menichelli, A.; Fabretto, A.; Cattaruzza, T.; Manganotti, P.
A Validated HPLC-Diode Array Detection Method for Therapeutic Drug Monitoring of Thiopurines in Pediatric Patients: From Bench to Bedside
2022-01-01 Franzin, Martina; Curci, Debora; Lucafò, Marianna; Bramuzzo, Matteo; Rabusin, Marco; Fabretto, Antonella; Addobbati, Riccardo; Stocco, Gabriele; Decorti, Giuliana
Alagille syndrome: A new missense mutation detected by whole-exome sequencing in a case previously found to be negative by DHPLC and MLPA
2013-01-01 Vozzi, D.; Licastro, D.; Martelossi, S.; Athanasakis, E.; Gasparini, P.; Fabretto, A.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
2019-01-01 Salpietro, Vincenzo; Dixon, Christine L; Guo, Hui; Bello, Oscar D; Vandrovcova, Jana; Efthymiou, Stephanie; Maroofian, Reza; Heimer, Gali; Burglen, Lydie; Valence, Stephanie; Torti, Erin; Hacke, Moritz; Rankin, Julia; Tariq, Huma; Colin, Estelle; Procaccio, Vincent; Striano, Pasquale; Mankad, Kshitij; Lieb, Andreas; Chen, Sharon; Pisani, Laura; Bettencourt, Conceicao; Männikkö, Roope; Manole, Andreea; Brusco, Alfredo; Grosso, Enrico; Ferrero, Giovanni Battista; Armstrong-Moron, Judith; Gueden, Sophie; Bar-Yosef, Omer; Tzadok, Michal; Monaghan, Kristin G; Santiago-Sim, Teresa; Person, Richard E; Cho, Megan T; Willaert, Rebecca; Yoo, Yongjin; Chae, Jong-Hee; Quan, Yingting; Wu, Huidan; Wang, Tianyun; Bernier, Raphael A; Xia, Kun; Blesson, Alyssa; Jain, Mahim; Motazacker, Mohammad M; Jaeger, Bregje; Schneider, Amy L; Boysen, Katja; Muir, Alison M; Myers, Candace T; Gavrilova, Ralitza H; Gunderson, Lauren; Schultz-Rogers, Laura; Klee, Eric W; Dyment, David; Osmond, Matthew; Parellada, Mara; Llorente, Cloe; Gonzalez-Peñas, Javier; Carracedo, Angel; Van Haeringen, Arie; Ruivenkamp, Claudia; Nava, Caroline; Heron, Delphine; Nardello, Rosaria; Iacomino, Michele; Minetti, Carlo; Skabar, Aldo; Fabretto, Antonella; Raspall-Chaure, Miquel; Chez, Michael; Tsai, Anne; Fassi, Emily; Shinawi, Marwan; Constantino, John N; De Zorzi, Rita; Fortuna, Sara; Kok, Fernando; Keren, Boris; Bonneau, Dominique; Choi, Murim; Benzeev, Bruria; Zara, Federico; Mefford, Heather C; Scheffer, Ingrid E; Clayton-Smith, Jill; Macaya, Alfons; Rothman, James E; Eichler, Evan E; Kullmann, Dimitri M; Houlden, Henry
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12
2012-01-01 Rocca, Maria Santa; Fabretto, Antonella; Faletra, Flavio; Carlet, Ombretta; Skabar, Aldo; Gasparini, Paolo; Pecile, Vanna
De novo 6.9Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features
2012-01-01 Fabretto, Antonella; Rocca, Maria Santa; Perrone, Maria Dolores; Skabar, Aldo; Pecile, Vanna; Gasparini, Paolo
Genetics of hearing loss (from congenital forms to presbycusis)
2011-01-01 Dipresa, Savina; Fabretto, Antonella; Girotto, Giorgia; Zadro, Cristina; Gasparini, Paolo
Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures
2012-01-01 Licastro, Danilo; Mutarelli, Margherita; Peluso, Ivana; Neveling, Kornelia; Wieskamp, Nienke; Rispoli, Rossella; Vozzi, Diego; Athanasakis, Emmanouil; D'Eustacchio, Angela; Pizzo, Mariateresa; D'Amico, Francesca; Ziviello, Carmela; Simonelli, Francesca; Fabretto, Antonella; Scheffer, Hans; Gasparini, Paolo; Banfi, Sandro; Nigro, Vincenzo
Molecular epidemiology of Usher syndrome in Italy
2011-01-01 Vozzi, Diego; Aaspõllu, Anu; Athanasakis, Emmanouil; Berto, Anna; Fabretto, Antonella; Licastro, Danilo; Külm, Maigi; Testa, Francesco; Trevisi, Patrizia; Vahter, Marju; Ziviello, Carmela; Martini, Alessandro; Simonelli, Francesca; Banfi, Sandro; Gasparini, Paolo
Preanalytical Stability of 13 Antibiotics in Biological Samples: A Crucial Factor for Therapeutic Drug Monitoring
2024-01-01 Dalla Zuanna, Paolo; Curci, Debora; Lucafò, Marianna; Addobbati, Riccardo; Fabretto, Antonella; Stocco, Gabriele
Prevalence and characteristics of thelarche variant
2023-01-01 Burlo, Francesca; Lorenzon, Beatrice; Tamaro, Gianluca; Fabretto, Antonella; Buonomo, Francesca; Peinkhofer, Martina; Vidonis, Viviana; Vittori, Giada; Faleschini, Elena; Barbi, Egidio; Tornese, Gianluca
Severe inflammatory bowel disease associated with congenital alteration of transforming growth factor beta signaling.
2014-01-01 Naviglio, Samuele; Arrigo, S; Martelossi, Stefano; Villanacci, V; Tommasini, Alberto; Loganes, Claudia; Fabretto, Antonella; Vignola, S; Lonardi, S; Ventura, Alessandro
Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I
2010-01-01 Fabretto, Antonella; Kutsche, Kerstin; Harmsen, May-Britt; Demarini, Sergio; Gasparini, Paolo; Fertz, Maria Cristina; Zenker, Martin
Type 3 Congenital Multiple Pituitary Hormone Deficiency
2014-01-01 Radillo, L; Fabretto, A; Saveanu, A; Demarini, S; Tonini, G; Faleschini, E; Tornese, G; Pellegrin, Mc.