Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
de Wert, Guido, Dondorp, Wybo, Clarke, Angus, Dequeker, Elisabeth M C, Cordier, Christophe, Deans, Zandra, van El, Carla G, Fellmann, Florence, Hastings, Ros, Hentze, Sabine, Howard, Heidi, Macek, Milan, Mendes, Alvaro, Patch, Chris, Rial-Sebbag, Emmanuelle, Stefansdottir, Vigdis, Cornel, Martina C, Forzano, Francesca
Published in European journal of human genetics : EJHG (01.03.2021)
Published in European journal of human genetics : EJHG (01.03.2021)
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Editorial: Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders
Cogliati, Francesca, Forzano, Francesca, Russo, Silvia
Published in Frontiers in neurology (22.07.2021)
Published in Frontiers in neurology (22.07.2021)
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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome
Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen
Published in Clinical genetics (01.06.2019)
Published in Clinical genetics (01.06.2019)
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Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)
Guida, Valentina, Calzari, Luciano, Fadda, Maria Teresa, Piceci-Sparascio, Francesca, Digilio, Maria Cristina, Bernardini, Laura, Brancati, Francesco, Mattina, Teresa, Melis, Daniela, Forzano, Francesca, Briuglia, Silvana, Mazza, Tommaso, Bianca, Sebastiano, Valente, Enza Maria, Salehi, Leila Bagherjad, Prontera, Paolo, Pagnoni, Mario, Tenconi, Romano, Dallapiccola, Bruno, Iannetti, Giorgio, Corsaro, Luigi, De Luca, Alessandro, Gentilini, Davide
Published in International journal of molecular sciences (26.01.2021)
Published in International journal of molecular sciences (26.01.2021)
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Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
Vetro, Annalisa, Dehghani, Mohammad Reza, Kraoua, Lilia, Giorda, Roberto, Beri, Silvana, Cardarelli, Laura, Merico, Maurizio, Manolakos, Emmanouil, Parada-Bustamante, Alexis, Castro, Andrea, Radi, Orietta, Camerino, Giovanna, Brusco, Alfredo, Sabaghian, Marjan, Sofocleous, Crystalena, Forzano, Francesca, Palumbo, Pietro, Palumbo, Orazio, Calvano, Savino, Zelante, Leopoldo, Grammatico, Paola, Giglio, Sabrina, Basly, Mohamed, Chaabouni, Myriam, Carella, Massimo, Russo, Gianni, Bonaglia, Maria Clara, Zuffardi, Orsetta
Published in European journal of human genetics : EJHG (01.08.2015)
Published in European journal of human genetics : EJHG (01.08.2015)
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BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia
Cho, Sung Yoon, Bae, Jun-Seok, Kim, Nayoung K.D., Forzano, Francesca, Girisha, Katta Mohan, Baldo, Chiara, Faravelli, Francesca, Cho, Tae-Joon, Kim, Dongsup, Lee, Kyoung Yeul, Ikegawa, Shiro, Shim, Jong Sup, Ko, Ah-Ra, Miyake, Noriko, Nishimura, Gen, Superti-Furga, Andrea, Spranger, Jürgen, Kim, Ok-Hwa, Park, Woong-Yang, Jin, Dong-Kyu
Published in American journal of human genetics (02.06.2016)
Published in American journal of human genetics (02.06.2016)
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Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome
Battistella, Giovanni, Niederhauser, Julien, Fornari, Eleonora, Hippolyte, Loyse, Gronchi Perrin, Aline, Lesca, Gaetan, Forzano, Francesca, Hagmann, Patric, Vingerhoets, Francois J.G, Draganski, Bogdan, Maeder, Philippe, Jacquemont, Sébastien
Published in Neurobiology of aging (01.06.2013)
Published in Neurobiology of aging (01.06.2013)
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8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
Catusi, Ilaria, Garzo, Maria, Capra, Anna Paola, Briuglia, Silvana, Baldo, Chiara, Canevini, Maria Paola, Cantone, Rachele, Elia, Flaviana, Forzano, Francesca, Galesi, Ornella, Grosso, Enrico, Malacarne, Michela, Peron, Angela, Romano, Corrado, Saccani, Monica, Larizza, Lidia, Recalcati, Maria Paola
Published in Genes (27.04.2021)
Published in Genes (27.04.2021)
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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
Dondorp, Wybo, de Wert, Guido, Bombard, Yvonne, Bianchi, Diana W, Bergmann, Carsten, Borry, Pascal, Chitty, Lyn S, Fellmann, Florence, Forzano, Francesca, Hall, Alison, Henneman, Lidewij, Howard, Heidi C, Lucassen, Anneke, Ormond, Kelly, Peterlin, Borut, Radojkovic, Dragica, Rogowski, Wolf, Soller, Maria, Tibben, Aad, Tranebjærg, Lisbeth, van El, Carla G, Cornel, Martina C
Published in European journal of human genetics : EJHG (18.03.2015)
Published in European journal of human genetics : EJHG (18.03.2015)
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Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome
HAMMOND, Peter, HANNES, Femke, SOUTH, Sarah T, CAREY, John C, QUARRELL, Oliver, SUTTIE, Michael, DEVRIENDT, Koen, ROBERT VERMEESCH, Joris, FARAVELLI, Francesca, FORZANO, Francesca, PAREKH, Susan, WILLIAMS, Steve, MCMULLAN, Dominic
Published in European journal of human genetics : EJHG (01.01.2012)
Published in European journal of human genetics : EJHG (01.01.2012)
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FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene
Fernández, Esperanza, Gennaro, Elena, Pirozzi, Filomena, Baldo, Chiara, Forzano, Francesca, Turolla, Licia, Faravelli, Francesca, Gastaldo, Denise, Coviello, Domenico, Grasso, Marina, Bagni, Claudia
Published in Frontiers in genetics (02.11.2018)
Published in Frontiers in genetics (02.11.2018)
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Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients
Micale, Lucia, Augello, Bartolomeo, Fusco, Carmela, Selicorni, Angelo, Loviglio, Maria N, Silengo, Margherita Cirillo, Reymond, Alexandre, Gumiero, Barbara, Zucchetti, Federica, D'Addetta, Ester V, Belligni, Elga, Calcagnì, Alessia, Digilio, Maria C, Dallapiccola, Bruno, Faravelli, Francesca, Forzano, Francesca, Accadia, Maria, Bonfante, Aldo, Clementi, Maurizio, Daolio, Cecilia, Douzgou, Sofia, Ferrari, Paola, Fischetto, Rita, Garavelli, Livia, Lapi, Elisabetta, Mattina, Teresa, Melis, Daniela, Patricelli, Maria G, Priolo, Manuela, Prontera, Paolo, Renieri, Alessandra, Mencarelli, Maria A, Scarano, Gioacchino, della Monica, Matteo, Toschi, Benedetta, Turolla, Licia, Vancini, Alessandra, Zatterale, Adriana, Gabrielli, Orazio, Zelante, Leopoldo, Merla, Giuseppe
Published in Orphanet journal of rare diseases (09.06.2011)
Published in Orphanet journal of rare diseases (09.06.2011)
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P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9
Magini, Pamela, Marco‐Marin, Clara, Escamilla‐Honrubia, Juan M., Martinelli, Diego, Dionisi-Vici, Carlo, Faravelli, Francesca, Forzano, Francesca, Seri, Marco, Rubio, Vicente, Panza, Emanuele
Published in Annals of clinical and translational neurology (01.08.2019)
Published in Annals of clinical and translational neurology (01.08.2019)
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Setleis Syndrome: Genetic and Clinical Findings in a New Case With Epilepsy
Giordano, Lucio, MD, Desnick, Robert J., MD PhD, Molinaro, Anna, MD, Uliana, Vera, MD, Forzano, Francesca, MD, Edelmann, Lisa, MD PhD, Nazarenko, Irene, MS, Pinelli, Lorenzo, MD, Accorsi, Patrizia, MD, Faravelli, Francesca, MD
Published in Pediatric neurology (01.04.2014)
Published in Pediatric neurology (01.04.2014)
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Fetal aortic root dilation: a prenatal feature of the Loeys‐Dietz syndrome
Viassolo, Valeria, Lituania, Mario, Marasini, Maurizio, Dietz, Harry, Benelli, Fabrizio, Forzano, Francesca, Faravelli, Francesca
Published in Prenatal diagnosis (01.11.2006)
Published in Prenatal diagnosis (01.11.2006)
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Osteoporosis in an elderly man as interplay of multiple diseases
Foppiani, Luca, Cella, Alberto, Carrara, Paola, Balocco, Manuela, Forzano, Francesca, Leone, Daniela, Ivaldi, Giovanni, Bacigalupo, Lorenzo, Del Monte, Patrizia
Published in Geriatrics & gerontology international (01.01.2011)
Published in Geriatrics & gerontology international (01.01.2011)
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Prediction of venous thromboembolism in average-risk, young candidates for oral contraceptive use: to genotype, or not to genotype, that is the question
Vercellini, Paolo, Artoni, Andrea, Abbattista, Maria, Martinelli, Ida, Pillinini, Chiara, Forzano, Francesca
Published in American journal of obstetrics and gynecology (01.08.2024)
Published in American journal of obstetrics and gynecology (01.08.2024)
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ESHG warns against misuses of genetic tests and biobanks for discrimination purposes
Forzano, Francesca, Genuardi, Maurizio, Moreau, Yves
Published in European journal of human genetics : EJHG (01.06.2021)
Published in European journal of human genetics : EJHG (01.06.2021)
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An ESHG–ESHRE survey on the current practice of expanded carrier screening in medically assisted reproduction
Capalbo, Antonio, de Wert, Guido, Henneman, Lidewij, Kakourou, Georgia, Mcheik, Saria, Peterlin, Borut, van El, Carla, Vassena, Rita, Vermeulen, Nathalie, Viville, Stéphane, Forzano, Francesca
Published in Human reproduction (Oxford) (01.08.2024)
Published in Human reproduction (Oxford) (01.08.2024)
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