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

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

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

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

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

ανά Lunati, Maria Elena, Bedeschi, Maria Francesca, Resi, Veronica, Grancini, Valeria, Palmieri, Eva, Salera, Simona, Lalatta, Faustina, Pugliese, Giuseppe, Orsi, Emanuela
Τόπος έκδοσης 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

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

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

ανά D’Ambrosio, Angelo, Agricola, Eleonora, Russo, Luisa, Gesualdo, Francesco, Pandolfi, Elisabetta, Bortolus, Renata, Castellani, Carlo, Lalatta, Faustina, Mastroiacovo, Pierpaolo, Tozzi, Alberto Eugenio
Τόπος έκδοσης 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

ανά Silibello, G., Vizziello, P., Gallucci, M., Selicorni, A., Milani, D., Ajmone, P. F., Rigamonti, C., De Stefano, S., Bedeschi, M. F., Lalatta, Faustina
Τόπος έκδοσης 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

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

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

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

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

ανά 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
Τόπος έκδοσης BMC Pregnancy Childbirth (2017)

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

ανά 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
Έκδοση 2009

Banking together. A unified model of informed consent for biobanking

ανά 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
Έκδοση 2008

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

ανά 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
Έκδοση 2013

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

ανά 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
Τόπος έκδοσης BMC Med Genet (2017)

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

ανά 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
Έκδοση 2013

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

ανά 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
Έκδοση 2009

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

ανά 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
Έκδοση 2013

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

ανά 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
Έκδοση 2010

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

ανά 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
Τόπος έκδοσης Eur J Hum Genet (2016)