Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria von Artuso, R, Mencarelli, M.A, Polli, R, Sartori, S, Ariani, F, Pollazzon, M, Marozza, A, Cilio, M.R, Specchio, N, Vigevano, F, Vecchi, M, Boniver, C, Dalla Bernardina, B, Parmeggiani, A, Buoni, S, Hayek, G, Mari, F, Renieri, A, Murgia, A

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Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical f... von Maini, I, Ivanovski, I, Djuric, O, Caraffi, S G, Errichiello, E, Marinelli, M, Franchi, F, Bizzarri, V, Rosato, S, Pollazzon, M, Gelmini, C, Malacarne, M, Fusco, C, Gargano, G, Bernasconi, S, Zuffardi, O, Garavelli, L

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Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation von Bijlsma, E.K, Collins, A, Papa, F.T, Tejada, M.I, Wheeler, P, Peeters, E.A.J, Gijsbers, A.C.J, van de Kamp, J.M, Kriek, M, Losekoot, M, Broekma, A.J, Crolla, J.A, Pollazzon, M, Mucciolo, M, Katzaki, E, Disciglio, V, Ferreri, M.I, Marozza, A, Mencarelli, M.A, Castagnini, C, Dosa, L, Ariani, F, Mari, F, Canitano, R, Hayek, G, Botella, M.P, Gener, B, Mínguez, M, Renieri, A, Ruivenkamp, C.A.L

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Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) von Bonomi, Marco, Vezzoli, Valeria, Krausz, Csilla, Guizzardi, Fabiana, Vezzani, Silvia, Simoni, Manuela, Bassi, Ivan, Duminuco, Paolo, Di Iorgi, Natascia, Giavoli, Claudia, Pizzocaro, Alessandro, Russo, Gianni, Moro, Mirella, Fatti, Letizia, Ferlin, Alberto, Mazzanti, Laura, Zatelli, Maria Chiara, Cannavò, Salvo, Isidori, Andrea M, Pincelli, Angela Ida, Prodam, Flavia, Mancini, Antonio, Limone, Paolo, Tanda, Maria Laura, Gaudino, Rossella, Salerno, Mariacarolina, Francesca, Pregnolato, Maghnie, Mohamad, Maggi, Mario, Persani, Luca

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A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb von Pollazzon, M, Grosso, S, Papa, F.T, Katzaki, E, Marozza, A, Mencarelli, M.A, Uliana, V, Balestri, P, Mari, F, Renieri, A

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The clinical impact of the perioperative epidural anesthesia on surgical outcomes after pancreaticoduodenectomy: A retrospective cohort study von Negrini, Daniel, Ihsan, Mayan, Freitas, Karine, Pollazzon, Caroline, Graaf, Jacqueline, Andre, Jorge, Linhares, Tatiana, Brandao, Virna, Silva, Gustavo, Fiorelli, Rossano, Barone, Patrick

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Expanding CEP290 mutational spectrum in ciliopathies von Travaglini, Lorena, Brancati, Francesco, Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria

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FOXG1 Is Responsible for the Congenital Variant of Rett Rett Syndrome von Ariani, F, Hayek, G, Rondinella, D, Artuso, R, Mencarelli, MA, Spanhol-Rosseto, A, Pollazzon, M, Buoni, S, Spiga, O, Ricciardi, S, Meloni, M, Longo, I, Mari, F, Renieri, A

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A 9.3Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb von Pollazzon, M., Grosso, S., Papa, F.T., Katzaki, E., Marozza, A., Mencarelli, M.A., Uliana, V., Balestri, P., Mari, F., Renieri, A.

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A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb: Emerging Microdeletion and Microduplication Syndromes von POLLAZZON, M, GROSSO, S, PAPA, F. T, KATZAKI, E, MAROZZA, A, MENCARELLI, M. A, ULIANA, V, BALESTRI, P, MARI, F, RENIERI, A

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Supplementary Material for: Expanding phenotype of SYT-1 related neurodevelopmental disorder: case report and literature review von C.A., Cesaroni, C., Spagnoli, M., Baga, S., Rizzi, D., Frattini, S.G., Caraffi, M., Pollazzon, L., Garavelli, C., Fusco

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Supplementary Material for: Xia-Gibbs syndrome with pes cavus, conjunctival melanosis and eye asymmetry due to a de novo AHDC1 gene variant: a case report and a brief review of the... von M., Baga, I., Ivanovski, G., Contrò, S.G., Caraffi, C., Spagnoli, C.A., Cesaroni, A., Neri, F., Peluso, M., Pollazzon, L., Garavelli, C., Fusco

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Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care von Ivanovski, I., Djuric, O., Caraffi, S.G., Santodirocco, D., Pollazzon, M., Rosato, S., Cordelli, D.M., Abdalla, E., Accorsi, P., Adam, M.P., Ajmone, P.F., Badura-Stronka, M., Baldo, C., Baldi, M., Bayat, A., Bigoni, S., Bonvicini, F., Breckpot, J., Callewaert, B., Cocchi, G., Cuturilo, G., Brasi, D. de, Devriendt, K., Dinulos, M.B., Hjortshoj, T.D., Epifanio, R., Faravelli, F., Fiumara, A., Formisano, D., Giordano, L., Grasso, M., Gronborg, S., Iodice, A., Iughetti, L., Kuburovic, V., Kutkowska-Kazmierczak, A., Lacombe, D., Rizzo, C. lo, Luchetti, A., Malbora, B., Mammi, I., Mari, F., Montorsi, G., Moutton, S., Moller, R.S., Muschke, P., Nielsen, J.E.K., Obersztyn, E., Pantaleoni, C., Pellicciari, A., Pisanti, M.A., Prpic, I., Poch-Olive, M.L., Raviglione, F., Renieri, A., Ricci, E., Rivieri, F., Santen, G.W., Savasta, S., Scarano, G., Schanze, I., Selicorni, A., Silengo, M., Smigiel, R., Spaccini, L., Sorge, G., Szczaluba, K., Tarani, L., Tone, L.G., Toutain, A., Trimouille, A., Valera, E.T., Vergano, S.S., Zanotta, N., Zenker, M., Conidi, A., Zollino, M., Rauch, A., Zweier, C., Garavelli, L.

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Additional file 5: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH resu... von I. Maini, I. Ivanovski, O. Djuric, S. Caraffi, E. Errichiello, M. Marinelli, F. Franchi, V. Bizzarri, S. Rosato, M. Pollazzon, C. Gelmini, M. Malacarne, C. Fusco, G. Gargano, S. Bernasconi, O. Zuffardi, L. Garavelli

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Additional file 1: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH resu... von I. Maini, I. Ivanovski, O. Djuric, S. Caraffi, E. Errichiello, M. Marinelli, F. Franchi, V. Bizzarri, S. Rosato, M. Pollazzon, C. Gelmini, M. Malacarne, C. Fusco, G. Gargano, S. Bernasconi, O. Zuffardi, L. Garavelli

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Additional file 7: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH resu... von I. Maini, I. Ivanovski, O. Djuric, S. Caraffi, E. Errichiello, M. Marinelli, F. Franchi, V. Bizzarri, S. Rosato, M. Pollazzon, C. Gelmini, M. Malacarne, C. Fusco, G. Gargano, S. Bernasconi, O. Zuffardi, L. Garavelli

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Investigation of modifier genes within copy number variations in Rett syndrome von Artuso, Rosangela, Papa, Filomena T, Grillo, Elisa, Mucciolo, Mafalda, Yasui, Dag H, Dunaway, Keith W, Disciglio, Vittoria, Mencarelli, Maria A, Pollazzon, Marzia, Zappella, Michele, Hayek, Giuseppe, Mari, Francesca, Renieri, Alessandra, LaSalle, Janine M, Ariani, Francesca

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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles von Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Hurst, Anna C.E., Kaiser, Frank J., Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Persani, Luca, Simpson, Brittany N., Angius, Andrea, Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Klee, Eric W., Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Park, Soo-Mi, Patterson, Jennifer, Peeters, Hilde, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tedder, Matt, Terhal, Paulien, Tully, Ian, White, Susan M., Xiao, Bing, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.

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Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders von Ruault, Valentin, Burger, Pauline, Gradels‐Hauguel, Johanna, Ruiz, Nathalie, Jamra, Rami Abou, Afenjar, Alexandra, Alembik, Yves, Alessandri, Jean‐Luc, Arpin, Stéphanie, Barcia, Giulia, Bendová, Šárka, Bruel, Ange‐Line, Charles, Perrine, Chatron, Nicolas, Chopra, Maya, Conrad, Solène, Daire, Valérie Cormier, Cospain, Auriane, Coubes, Christine, Coursimault, Juliette, Delahaye‐Duriez, Andrée, Doco, Martine, Dufour, William, Durand, Benjamin, Engel, Camille, Faivre, Laurence, Ferroul, Fanny, Fradin, Mélanie, Frenkiel, Hélène, Fusco, Carlo, Garavelli, Livia, Garde, Aurore, Gerard, Bénédicte, Germanaud, David, Goujon, Louise, Gouronc, Aurélie, Ginglinger, Emmanuelle, Goldenberg, Alice, Hancarova, Miroslava, Havlovicová, Markéta, Heron, Delphine, Isidor, Bertrand, Marçais, Nolwenn Jean, Keren, Boris, Koch‐Hogrebe, Margarete, Kuentz, Paul, Lamure, Victoria, Lebre, Anne‐Sophie, Lecoquierre, François, Lehman, Natacha, Lesca, Gaetan, Lyonnet, Stanislas, Martin, Delphine, Mignot, Cyril, Neuhann, Teresa M., Nicolas, Gaël, Nizon, Mathilde, Petit, Florence, Philippe, Christophe, Piton, Amélie, Pollazzon, Marzia, Prchalová, Darina, Putoux, Audrey, Rio, Marlène, Rondeau, Sophie, Rossi, Massimiliano, Sabbagh, Quentin, Saugier‐Veber, Pascale, Schmetz, Ariane, Steffann, Julie, Thauvin‐Robinet, Christel, Toutain, Annick, Them, Frederic Tran Mau, Trimarchi, Gabriele, Vincent, Marie, Vlčková, Markéta, Wieczorek, Dagmar, Willems, Marjolaine, Yauy, Kevin, Zelinová, Michaela, Ziegler, Alban, Chaumette, Boris, Sadikovic, Bekim, Mandel, Jean‐Louis, Geneviève, David

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Investigation of modifier genes within copy number variations in Rett syndrome von Artuso, Rosangela, Papa, Filomena T, Grillo, Elisa, Mucciolo, Mafalda, Yasui, Dag H, Dunaway, Keith W, Disciglio, Vittoria, Mencarelli, Maria A, Pollazzon, Marzia, Zappella, Michele, Hayek, Giuseppe, Mari, Francesca, Renieri, Alessandra, LaSalle, Janine M, Ariani, Francesca

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