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 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 2013

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 2014

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 2016

Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling

por Colombo, Elisa Adele, Valiante, Michele, Uggeri, Matteo, Orro, Alessandro, Majore, Silvia, Grammatico, Paola, Gentilini, Davide, Finelli, Palma, Gervasini, Cristina, D’Ursi, Pasqualina, Larizza, Lidia
Publicado 2023

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

por Camerota, Letizia, Ritelli, Marco, Wischmeijer, Anita, Majore, Silvia, Cinquina, Valeria, Fortugno, Paola, Monetta, Rosanna, Gigante, Laura, Sangiuolo, Federica Carla, Novelli, Giuseppe, Colombi, Marina, Brancati, Francesco
Publicado 2019

Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers–Danlos Syndrome Classical-like Type 2?

por Di Giosaffatte, Niccolò, Ferraris, Alessandro, Gaudioso, Federica, Lodato, Valentina, Savino, Emanuele, Celletti, Claudia, Camerota, Filippo, Bargiacchi, Simone, Laino, Luigi, Majore, Silvia, Bottillo, Irene, Grammatico, Paola
Publicado 2022

A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes

por De Simone, Paola, Bottillo, Irene, Valiante, Michele, Iorio, Alessandra, De Bernardo, Carmelilia, Majore, Silvia, D’Angelantonio, Daniela, Valentini, Tiziana, Sperduti, Isabella, Piemonte, Paolo, Eibenschutz, Laura, Ferrari, Angela, Carbone, Anna, Buccini, Pierluigi, Paiardini, Alessandro, Silipo, Vitaliano, Frascione, Pasquale, Grammatico, Paola
Publicado 2020

Schimke immunoosseous dysplasia: defining skeletal features

por Hunter, Kshamta B., Lücke, Thomas, Spranger, Jürgen, Smithson, Sarah F., Alpay, Harika, André, Jean-Luc, Asakura, Yumi, Bogdanovic, Radovan, Bonneau, Dominique, Cairns, Robyn, Cransberg, Karlien, Fründ, Stefan, Fryssira, Helen, Goodman, David, Helmke, Knut, Hinkelmann, Barbara, Lama, Guiliana, Lamfers, Petra, Loirat, Chantal, Majore, Silvia, Mayfield, Christy, Pontz, Bertram F., Rusu, Cristina, Saraiva, Jorge M., Schmidt, Beate, Shoemaker, Lawrence, Sigaudy, Sabine, Stajic, Natasa, Taha, Doris, Boerkoel, Cornelius F.
Publicado 2009