Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols

Por Giuliani, Rossella, Antonucci, Ivana, Torrente, Isabella, Grammatico, Paola, Palka, Giandomenico, Stuppia, Liborio
Publicado em 2010

R-Spondin 1/Dickkopf-1/Beta-Catenin Machinery Is Involved in Testicular Embryonic Angiogenesis

Por Caruso, Maria, Ferranti, Francesca, Corano Scheri, Katia, Dobrowolny, Gabriella, Ciccarone, Fabio, Grammatico, Paola, Catizone, Angela, Ricci, Giulia
Publicado no PLoS One (2015)

Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling

Por Tomaselli, Sara, Megiorni, Francesca, Lin, Lin, Mazzilli, Maria Cristina, Gerrelli, Dianne, Majore, Silvia, Grammatico, Paola, Achermann, John C.
Publicado em 2011

Vaginoplasty for Disorders of Sex Development

Por Guarino, Nino, Scommegna, Salvatore, Majore, Silvia, Rapone, Anna Maria, Ungaro, Luciana, Morrone, Aldo, Grammatico, Paola, Marrocco, Giacinto A.
Publicado em 2013

A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation

Por Castori, Marco, Bottillo, Irene, D'Angelantonio, Daniela, Morlino, Silvia, De Bernardo, Carmelilia, Scassellati Sforzolini, Giovanna, Silvestri, Evelina, Grammatico, Paola
Publicado em 2014

A Single Nucleotide Variant in the FMR1 CGG Repeat Results in a “Pseudodeletion” and Is Not Associated with the Fragile X Syndrome Phenotype

Por Cecconi, Massimiliano, Forzano, Francesca, Rinaldi, Rosanna, Cappellacci, Sandra, Grammatico, Paola, Faravelli, Francesca, Dagna Bricarelli, Franca, Di Maria, Emilio, Grasso, Marina
Publicado em 2008

BMP15 mutations associated with Primary Ovarian Insufficiency cause a defective production of bioactive protein

Por Rossetti, Raffaella, Di Pasquale, Elisa, Marozzi, Anna, Bione, Silvia, Toniolo, Daniela, Grammatico, Paola, Nelson, Lawrence M., Beck-Peccoz, Paolo, Persani, Luca
Publicado em 2009

Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes

Por Cazzato, Daniele, Castori, Marco, Lombardi, Raffaella, Caravello, Francesca, Bella, Eleonora Dalla, Petrucci, Antonio, Grammatico, Paola, Dordoni, Chiara, Colombi, Marina, Lauria, Giuseppe
Publicado no Neurology (2016)

Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major

Por Andreani, Marco, Radio, Francesca Clementina, Testi, Manuela, De Bernardo, Carmelilia, Troiano, Maria, Majore, Silvia, Bertucci, Pierfrancesco, Polchi, Paola, Rosati, Renata, Grammatico, Paola
Publicado em 2009

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic

Por Laino, Luigi, Majore, Silvia, Preziosi, Nicoletta, Grammatico, Barbara, De Bernardo, Carmelilia, Scommegna, Salvatore, Rapone, Anna Maria, Marrocco, Giacinto, Bottillo, Irene, Grammatico, Paola
Publicado em 2014

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A h...

Por Bottillo, Irene, Castori, Marco, De Bernardo, Carmelilia, Fabbri, Romano, Grammatico, Barbara, Preziosi, Nicoletta, Scassellati, Giovanna Sforzolini, Silvestri, Evelina, Spagnuolo, Antonella, Laino, Luigi, Grammatico, Paola
Publicado em 2013

Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy

Por Bottillo, Irene, D’Angelantonio, Daniela, Caputo, Viviana, Paiardini, Alessandro, Lipari, Martina, De Bernardo, Carmelilia, Majore, Silvia, Castori, Marco, Zachara, Elisabetta, Re, Federica, Grammatico, Paola
Publicado no Data Brief (2016)

Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype

Por Carta, Claudio, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Stella, Lorenzo, Vasta, Isabella, Sarkozy, Anna, Digilio, Cristina, Palleschi, Antonio, Pizzuti, Antonio, Grammatico, Paola, Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco
Publicado em 2006

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception

Por Chiabrando, Deborah, Castori, Marco, di Rocco, Maja, Ungelenk, Martin, Gießelmann, Sebastian, Di Capua, Matteo, Madeo, Annalisa, Grammatico, Paola, Bartsch, Sophie, Hübner, Christian A., Altruda, Fiorella, Silengo, Lorenzo, Tolosano, Emanuela, Kurth, Ingo
Publicado no PLoS Genet (2016)

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

Por De Rocco, Daniela, Bottega, Roberta, Cappelli, Enrico, Cavani, Simona, Criscuolo, Maria, Nicchia, Elena, Corsolini, Fabio, Greco, Chiara, Borriello, Adriana, Svahn, Johanna, Pillon, Marta, Mecucci, Cristina, Casazza, Gabriella, Verzegnassi, Federico, Cugno, Chiara, Locasciulli, Anna, Farruggia, Piero, Longoni, Daniela, Ramenghi, Ugo, Barberi, Walter, Tucci, Fabio, Perrotta, Silverio, Grammatico, Paola, Hanenberg, Helmut, Della Ragione, Fulvio, Dufour, Carlo, Savoia, Anna
Publicado em 2014

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

Por De Rocco, Daniela, Bottega, Roberta, Cappelli, Enrico, Cavani, Simona, Criscuolo, Maria, Nicchia, Elena, Corsolini, Fabio, Greco, Chiara, Borriello, Adriana, Svahn, Johanna, Pillon, Marta, Mecucci, Cristina, Casazza, Gabriella, Verzegnassi, Federico, Cugno, Chiara, Locasciulli, Anna, Farruggia, Piero, Longoni, Daniela, Ramenghi, Ugo, Barberi, Walter, Tucci, Fabio, Perrotta, Silverio, Grammatico, Paola, Hanenberg, Helmut, Ragione, Fulvio Della, Dufour, Carlo, Savoia, Anna
Publicado no Haematologica (2014)

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

Por 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
Publicado no Eur J Hum Genet (2015)

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

Por 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
Publicado em 2010

Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants

Por Puntervoll, Hanne Eknes, Yang, Xiaohong R, Vetti, Hildegunn Høberg, Bachmann, Ingeborg M, Avril, Marie Françoise, Benfodda, Meriem, Catricalà, Caterina, Dalle, Stéphane, Duval-Modeste, Anne B, Ghiorzo, Paola, Grammatico, Paola, Harland, Mark, Hayward, Nicholas K, Hu, Hui-Han, Jouary, Thomas, Martin-Denavit, Tanguy, Ozola, Aija, Palmer, Jane M, Pastorino, Lorenza, Pjanova, Dace, Soufir, Nadem, Steine, Solrun J, Stratigos, Alexander J, Thomas, Luc, Tinat, Julie, Tsao, Hensin, Veinalde, Rūta, Tucker, Margaret A, Bressac-de Paillerets, Brigitte, Newton-Bishop, Julia A, Goldstein, Alisa M, Akslen, Lars A, Molven, Anders
Publicado em 2013