Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report

por Tritto, Giovanna, Ricca, Ivana, Turi, Marco, Gemma, Andrea, Muratori, Filippo, Scarano, Gioacchino, Lonardo, Fortunato
Publicado 2021

Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report

por Toscano, Paolo, Di Meglio, Lavinia, Lonardo, Fortunato, Di Meglio, Letizia, Mazzarelli, Laura Letizia, Sica, Carmine, Di Meglio, Aniello
Publicado 2021

A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect

por Fontana, Paolo, Budillon, Alberto, Simeone, Domenico, Del Vecchio Blanco, Francesca, Caiazza, Martina, D’Amico, Alessandra, Lonardo, Fortunato, Nigro, Vincenzo, Limongelli, Giuseppe, Scarano, Gioacchino
Publicado 2023

Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II

por Marzano, Flaviana, Chiara, Matteo, Consiglio, Arianna, D’Amato, Gabriele, Gentile, Mattia, Mirabelli, Valentina, Piane, Maria, Savio, Camilla, Fabiani, Marco, D’Elia, Domenica, Sbisà, Elisabetta, Scarano, Gioacchino, Lonardo, Fortunato, Tullo, Apollonia, Pesole, Graziano, Faienza, Maria Felicia
Publicado 2023

Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review

por Romano, Ferruccio, Falco, Mariateresa, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Lonardo, Fortunato, Torella, Annalaura, Digilio, Maria Cristina, Dentici, Maria Lisa, Alfieri, Paolo, Agolini, Emanuele, Novelli, Antonio, Garavelli, Livia, Accogli, Andrea, Striano, Pasquale, Scarano, Gioacchino, Nigro, Vincenzo, Scala, Marcello, Capra, Valeria
Publicado 2022

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

por Di Candia, Francesca, Fontana, Paolo, Paglia, Pamela, Falco, Mariateresa, Rosano, Carmen, Piscopo, Carmelo, Cappuccio, Gerarda, Siano, Maria Anna, De Brasi, Daniele, Mandato, Claudia, De Maggio, Ilaria, Squeo, Gabriella Maria, Monica, Matteo Della, Scarano, Gioacchino, Lonardo, Fortunato, Strisciuglio, Pietro, Merla, Giuseppe, Melis, Daniela
Publicado 2021

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

por Oppermann, Henry, Marcos-Grañeda, Elia, Weiss, Linnea A., Gurnett, Christina A., Jelsig, Anne Marie, Vineke, Susanne H., Isidor, Bertrand, Mercier, Sandra, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T., Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M., Semina, Elena V., Reuter, Miriam S., Scherer, Stephen W., Iascone, Maria, Weis, Denisa, Fagerberg, Christina R., Brasch-Andersen, Charlotte, Hansen, Lars Kjaersgaard, Kuechler, Alma, Noble, Nathan, Gardham, Alice, Tenney, Jessica, Rathore, Geetanjali, Beck-Woedl, Stefanie, Haack, Tobias B., Pavlidou, Despoina C., Atallah, Isis, Vodopiutz, Julia, Janecke, Andreas R., Hsieh, Tzung-Chien, Lesmann, Hellen, Klinkhammer, Hannah, Krawitz, Peter M., Lemke, Johannes R., Jamra, Rami Abou, Nieto, Marta, Tümer, Zeynep, Platzer, Konrad
Publicado 2023

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

por van Jaarsveld, Richard H., Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A., Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Audebert Bellanger, Severine, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C., Ciolfi, Andrea, van Essen, Ton A.J., Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M., Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A., Lewis, M.E. Suzanne, Lichty, Angie, Mannens, Marcel M.A.M., Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A., Yosovich, Keren, Yuskaitis, Christopher J., Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske
Publicado 2022

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

por Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen B. M., Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.
Publicado 2018

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

por Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen B. M., Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.
Publicado 2018