Recurrence of Congenital Heart Disease in Cases with Familial Risk Screened Prenatally by Echocardiography

par Fesslova, Vlasta, Brankovic, Jelena, Lalatta, Faustina, Villa, Laura, Meli, Valerio, Piazza, Luciane, Ricci, Cristian
Publié 2011

Novel use of Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases

par Galbiati, Silvia, Brisci, Angela, Lalatta, Faustina, Seia, Manuela, Makrigiorgos, G. Mike, Ferrari, Maurizio, Cremonesi, Laura
Publié 2010

Impaired glucose metabolism in subjects with the Williams-Beuren syndrome: A five-year follow-up cohort study

par Lunati, Maria Elena, Bedeschi, Maria Francesca, Resi, Veronica, Grancini, Valeria, Palmieri, Eva, Salera, Simona, Lalatta, Faustina, Pugliese, Giuseppe, Orsi, Emanuela
Publié dans PLoS One (2017)

Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior

par Lalatta, Faustina, Folliero, Emanuela, Cavallari, Ugo, Di Segni, Marina, Gentilin, Barbara, Fogliani, Roberto, Quagliarini, Donatella, Vizziello, Paola, Monti, Federico, Gargantini, Luigi
Publié 2012

Web-Based Surveillance of Public Information Needs for Informing Preconception Interventions

par D’Ambrosio, Angelo, Agricola, Eleonora, Russo, Luisa, Gesualdo, Francesco, Pandolfi, Elisabetta, Bortolus, Renata, Castellani, Carlo, Lalatta, Faustina, Mastroiacovo, Pierpaolo, Tozzi, Alberto Eugenio
Publié dans PLoS One (2015)

Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy

par Silibello, G., Vizziello, P., Gallucci, M., Selicorni, A., Milani, D., Ajmone, P. F., Rigamonti, C., De Stefano, S., Bedeschi, M. F., Lalatta, Faustina
Publié dans Ital J Pediatr (2016)

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

par Bedeschi, Maria Francesca, Bianchi, Vera, Gentilin, Barbara, Colombo, Lorenzo, Natacci, Federica, Giglio, Sabrina, Andreucci, Elena, Trespidi, Laura, Acaia, Barbara, Furga, Andrea Superti, Lalatta, Faustina
Publié 2011

Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

par Paganini, Leda, Carlessi, Nicole, Fontana, Laura, Silipigni, Rosamaria, Motta, Silvia, Fiori, Stefano, Guerneri, Silvana, Lalatta, Faustina, Cereda, Anna, Sirchia, Silvia, Miozzo, Monica, Tabano, Silvia
Publié dans Epigenetics (2015)

Why women do not ask for information on preconception health? A qualitative study

par Bortolus, Renata, Oprandi, Nadia C., Rech Morassutti, Francesca, Marchetto, Luca, Filippini, Francesca, Agricola, Eleonora, Tozzi, Alberto E., Castellani, Carlo, Lalatta, Faustina, Rusticali, Bruno, Mastroiacovo, Pierpaolo
Publié dans BMC Pregnancy Childbirth (2017)

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

par Bernardini, Laura, Gimelli, Stefania, Gervasini, Cristina, Carella, Massimo, Baban, Anwar, Frontino, Giada, Barbano, Giancarlo, Divizia, Maria Teresa, Fedele, Luigi, Novelli, Antonio, Béna, Frédérique, Lalatta, Faustina, Miozzo, Monica, Dallapiccola, Bruno
Publié 2009

Banking together. A unified model of informed consent for biobanking

par Salvaterra, Elena, Lecchi, Lucilla, Giovanelli, Silvia, Butti, Barbara, Bardella, Maria Teresa, Bertazzi, Pier Alberto, Bosari, Silvano, Coggi, Guido, Coviello, Domenico A, Lalatta, Faustina, Moggio, Maurizio, Nosotti, Mario, Zanella, Alberto, Rebulla, Paolo
Publié 2008

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

par Marconi, Caterina, Brunamonti Binello, Paolo, Badiali, Giovanni, Caci, Emanuela, Cusano, Roberto, Garibaldi, Joseph, Pippucci, Tommaso, Merlini, Alberto, Marchetti, Claudio, Rhoden, Kerry J, Galietta, Luis J V, Lalatta, Faustina, Balbi, Paolo, Seri, Marco
Publié 2013

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

par Bedeschi, Maria Francesca, Calvello, Mariarosaria, Paganini, Leda, Pezzani, Lidia, Baccarin, Marco, Fontana, Laura, Sirchia, Silvia M., Guerneri, Silvana, Canazza, Lorena, Leva, Ernesto, Colombo, Lorenzo, Lalatta, Faustina, Mosca, Fabio, Tabano, Silvia, Miozzo, Monica
Publié dans BMC Med Genet (2017)

Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

par Calvello, Mariarosaria, Tabano, Silvia, Colapietro, Patrizia, Maitz, Silvia, Pansa, Alessandra, Augello, Claudia, Lalatta, Faustina, Gentilin, Barbara, Spreafico, Filippo, Calzari, Luciano, Perotti, Daniela, Larizza, Lidia, Russo, Silvia, Selicorni, Angelo, Sirchia, Silvia M, Miozzo, Monica
Publié 2013

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

par Bliek, Jet, Verde, Gaetano, Callaway, Jonathan, Maas, Saskia M, De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Ferraiuolo, Serena, Rinaldi, Maria Michela, Fischetto, Rita, Lalatta, Faustina, Giordano, Lucio, Ferrari, Paola, Cubellis, Maria Vittoria, Larizza, Lidia, Temple, I Karen, Mannens, Marcel M A M, Mackay, Deborah J G, Riccio, Andrea
Publié 2009

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

par Unger, Sheila, Górna, Maria W., Le Béchec, Antony, Do Vale-Pereira, Sonia, Bedeschi, Maria Francesca, Geiberger, Stefan, Grigelioniene, Giedre, Horemuzova, Eva, Lalatta, Faustina, Lausch, Ekkehart, Magnani, Cinzia, Nampoothiri, Sheela, Nishimura, Gen, Petrella, Duccio, Rojas-Ringeling, Francisca, Utsunomiya, Akari, Zabel, Bernhard, Pradervand, Sylvain, Harshman, Keith, Campos-Xavier, Belinda, Bonafé, Luisa, Superti-Furga, Giulio, Stevenson, Brian, Superti-Furga, Andrea
Publié 2013

Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies

par Iannicelli, Miriam, Brancati, Francesco, Mougou-Zerelli, Soumaya, Mazzotta, Annalisa, Thomas, Sophie, Elkhartoufi, Nadia, Travaglini, Lorena, Gomes, Céline, Ardissino, Gian Luigi, Bertini, Enrico, Boltshauser, Eugen, Castorina, Pierangela, D'Arrigo, Stefano, Fischetto, Rita, Leroy, Brigitte, Loget, Philippe, Bonnière, Maryse, Starck, Lena, Tantau, Julia, Gentilin, Barbara, Majore, Silvia, Swistun, Dominika, Flori, Elizabeth, Lalatta, Faustina, Pantaleoni, Chiara, Johannes.Penzien, Grammatico, Paola, Dallapiccola, Bruno, Gleeson, Joseph G., Attie-Bitach, Tania, Valente, Enza Maria
Publié 2010

Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals

par Hill, Melissa, Johnson, Jo-Ann, Langlois, Sylvie, Lee, Hyun, Winsor, Stephanie, Dineley, Brigid, Horniachek, Marisa, Lalatta, Faustina, Ronzoni, Luisa, Barrett, Angela N, Advani, Henna V, Choolani, Mahesh, Rabinowitz, Ron, Pajkrt, Eva, van Schendel, Rachèl V, Henneman, Lidewij, Rommers, Wieke, Bilardo, Caterina M, Rendeiro, Paula, Ribeiro, Maria João, Rocha, José, Bay Lund, Ida Charlotte, Petersen, Olav B, Becher, Naja, Vogel, Ida, Stefánsdottir, Vigdis, Ingvarsdottir, Sigrun, Gottfredsdottir, Helga, Morris, Stephen, Chitty, Lyn S
Publié dans Eur J Hum Genet (2016)