XX males SRY negative: a confirmed cause of infertility

por Vetro, Annalisa, Ciccone, Roberto, Giorda, Roberto, Patricelli, Maria Grazia, Della Mina, Erika, Forlino, Antonella, Zuffardi, Orsetta
Publicado 2011

Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

por Cisternino, Mariangela, Della Mina, Erika, Losa, Laura, Madè, Alexandra, Rossetti, Giulia, Bassi, Lorenzo Andrea, Pieri, Giovanni, Bayindir, Baran, Messa, Jole, Zuffardi, Orsetta, Ciccone, Roberto
Publicado 2013

Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A

por Lepelley, Alice, Della Mina, Erika, Van Nieuwenhove, Erika, Waumans, Lise, Fraitag, Sylvie, Rice, Gillian I., Dhir, Ashish, Frémond, Marie-Louise, Rodero, Mathieu P., Seabra, Luis, Carter, Edwin, Bodemer, Christine, Buhas, Daniela, Callewaert, Bert, de Lonlay, Pascale, De Somer, Lien, Dyment, David A., Faes, Fran, Grove, Lucy, Holden, Simon, Hully, Marie, Kurian, Manju A., McMillan, Hugh J., Suetens, Kristin, Tyynismaa, Henna, Chhun, Stéphanie, Wai, Timothy, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
Publicado 2021

IRF4 haploinsufficiency in a family with Whipple’s disease

por Guérin, Antoine, Kerner, Gaspard, Marr, Nico, Markle, Janet G, Fenollar, Florence, Wong, Natalie, Boughorbel, Sabri, Avery, Danielle T, Ma, Cindy S, Bougarn, Salim, Bouaziz, Matthieu, Béziat, Vivien, Della Mina, Erika, Oleaga-Quintas, Carmen, Lazarov, Tomi, Worley, Lisa, Nguyen, Tina, Patin, Etienne, Deswarte, Caroline, Martinez-Barricarte, Rubén, Boucherit, Soraya, Ayral, Xavier, Edouard, Sophie, Boisson-Dupuis, Stéphanie, Rattina, Vimel, Bigio, Benedetta, Vogt, Guillaume, Geissmann, Frédéric, Quintana-Murci, Lluis, Chaussabel, Damien, Tangye, Stuart G, Raoult, Didier, Abel, Laurent, Bustamante, Jacinta, Casanova, Jean-Laurent
Publicado 2018

Type I interferon-mediated autoinflammation due to DNase II deficiency

por Rodero, Mathieu P., Tesser, Alessandra, Bartok, Eva, Rice, Gillian I., Della Mina, Erika, Depp, Marine, Beitz, Benoit, Bondet, Vincent, Cagnard, Nicolas, Duffy, Darragh, Dussiot, Michael, Frémond, Marie-Louise, Gattorno, Marco, Guillem, Flavia, Kitabayashi, Naoki, Porcheray, Fabrice, Rieux-Laucat, Frederic, Seabra, Luis, Uggenti, Carolina, Volpi, Stefano, Zeef, Leo A H., Alyanakian, Marie-Alexandra, Beltrand, Jacques, Bianco, Anna Monica, Boddaert, Nathalie, Brouzes, Chantal, Candon, Sophie, Caorsi, Roberta, Charbit, Marina, Fabre, Monique, Faletra, Flavio, Girard, Muriel, Harroche, Annie, Hartmann, Evelyn, Lasne, Dominique, Marcuzzi, Annalisa, Neven, Bénédicte, Nitschke, Patrick, Pascreau, Tiffany, Pastore, Serena, Picard, Capucine, Picco, Paolo, Piscianz, Elisa, Polak, Michel, Quartier, Pierre, Rabant, Marion, Stocco, Gabriele, Taddio, Andrea, Uettwiller, Florence, Valencic, Erica, Vozzi, Diego, Hartmann, Gunther, Barchet, Winfried, Hermine, Olivier, Bader-Meunier, Brigitte, Tommasini, Alberto, Crow, Yanick J.
Publicado 2017