Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord von Wongkittichote, Parith, Choi, Tae‐Ik, Kim, Oc‐Hee, Riley, Kacie, Koeberl, Dwight, Narayanan, Vinodh, Ramsey, Keri, Balak, Chris, Schwartz, Charles E., Cueto‐Gonzalez, Anna Maria, Casadesus, Francina Munell, Kim, Cheol‐Hee, Shinawi, Marwan S.

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Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes von Maia, Nuno, Ibarluzea, Nekane, Misra‐Isrie, Mala, Koboldt, Daniel C., Marques, Isabel, Soares, Gabriela, Santos, Rosário, Marcelis, Carlo L. M., Keski‐Filppula, Riikka, Guitart, Miriam, Gabau Vila, Elisabeth, Lehman, April, Hickey, Scott, Mori, Mari, Terhal, Paulien, Valenzuela, Irene, Lasa‐Aranzasti, Amaia, Cueto‐González, Anna Maria, Chhouk, Brian H., Yeh, Rebecca C., Neil, Jennifer E., Abu‐Libde, Bassam, Kleefstra, Tjitske, Elting, Mariet W., Császár, Andrea, Kárteszi, Judit, Bessenyei, Beáta, Bokhoven, Hans, Jorge, Paula, Hagen, Johanna M., Brouwer, Arjan P. M.

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A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes von Urreizti, Roser, Cueto-Gonzalez, Anna Maria, Franco-Valls, Héctor, Mort-Farre, Sílvia, Roca-Ayats, Neus, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio, Mattia, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo F., Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M., Neri, Giovanni, Grinberg, Daniel, Balcells, Susana

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Natural history of KBG syndrome in a large European cohort von Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Atallah, Isis, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria

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New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients von Barbero, Ana Isabel Sánchez, Valenzuela, Irene, Fernández-Alvarez, Paula, Vazquez, Élida, Cueto-Gonzalez, Anna Maria, Lasa-Aranzasti, Amaia, Trujillano, Laura, Masotto, Bárbara, Arumí, Elena García, Tizzano, Eduardo F

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort von van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O’Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael, Giordano, Jessica L., Wapner, Ronald J., Rosenfeld, Jill A., Haak, Monique C., Santen, Gijs W.E.

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An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history von Codina-Solà, Marta, Trujillano, Laura, Abulí, Anna, Rovira-Moreno, Eulàlia, Muñoz-Cabello, Patricia, Campos, Berta, Fernández-Álvarez, Paula, Palau, Dolors, Carrasco, Estela, Valenzuela, Irene, Cueto-González, Anna Maria, Lasa-Aranzasti, Amaia, Limeres, Javier, Leno-Colorado, Jordi, Costa-Roger, Mar, Moles-Fernández, Alejandro, Balmaña, Judith, Díez, Orland, Cuscó, Ivon, Garcia-Arumí, Elena, Tizzano, Eduardo Fidel

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort von van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O’Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael, Giordano, Jessica L., Wapner, Ronald J., Rosenfeld, Jill A., Haak, Monique C., Santen, Gijs W.E.

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Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype von Santos-Simarro, Fernando, Pacio, Marta, Cueto-González, Anna María, Mansilla, Elena, Valenzuela-Palafoll, María Irene, López-Grondona, Fermina, Lledín, María Dolores, Schuffelmann, Cristina, del Pozo, Ángela, Solis, Mario, Vallcorba, Patricia, Lapunzina, Pablo, Menéndez Suso, Juan José, Siccha, Sofia M., Montejo, Juan Manuel, Mena, Rocío, Jiménez-Rodríguez, Carmen, García-Miñaúr, Sixto, Palomares-Bralo, María

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A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C syndromes von Urreizti Frexedas, Roser, Cueto Gonzalez, Anna Maria, Franco Valls, Héctor, Mort Farre, Sílvia, Roca Ayats, Neus, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio, Mattia, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo F, Cormand Rifà, Bru, Vilageliu i Arqués, Lluïsa, Opitz, John M, Neri, Giovanni, Grinberg Vaisman, Daniel Raúl, Balcells Comas, Susana

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A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C syndromes von Urreizti, Roser, Cueto Gonzalez, Anna Maria, Franco Valls, Héctor, Mort Farre, Sílvia, Roca Ayats, Neus, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio, Mattia, Ossowski, Stephan, Montfort Roca, Magda, Hecht, Jochen, Tizzano Ferrari, Eduardo, Cormand Rifà, Bru, Vilageliu i Arqués, Lluïsa, Opitz, John M, Neri, Giovanni, Grinberg Vaisman, Daniel Raúl, Balcells Comas, Susana

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Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature von Gazdagh, Gabriella, Hunt, David, Gonzalez, Anna Maria Cueto, Rodriguez, Monserrat Pons, Chaudhry, Ayeshah, Madruga, Marcos, Vansenne, Fleur, Shears, Deborah, Curie, Aurore, Stattin, Eva‐Lena, Anderlid, Britt‐Marie, Trajkova, Slavica, Angelovska, Elena Sukarova, McWilliam, Catherine, Wyatt, Philip R., O'Driscoll, Mary, Atton, Giles, Bergman, Anke K., Zacher, Pia, Mewasingh, Leena D., López, Antonio Gonzalez‐Meneses, Alonso‐Luengo, Olga, Wai, Htoo A., Rohde, Ottilie, Boiroux, Pauline, Debant, Anne, Schmidt, Susanne, Baralle, Diana

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A New Overgrowth Syndrome is due to Mutations in RNF125 von Tenorio, Jair, Mansilla, Alicia, Valencia, María, Martínez-Glez, Víctor, Romanelli, Valeria, Arias, Pedro, Castrejón, Nerea, Poletta, Fernando, Guillén-Navarro, Encarna, Gordo, Gema, Mansilla, Elena, García-Santiago, Fé, González-Casado, Isabel, Vallespín, Elena, Palomares, María, Mori, María A., Santos-Simarro, Fernando, García-Miñaur, Sixto, Fernández, Luis, Mena, Rocío, Benito-Sanz, Sara, del Pozo, Ángela, Silla, Juan Carlos, Ibañez, Kristina, López-Granados, Eduardo, Martín-Trujillo, Alex, Montaner, David, Heath, Karen E., Campos-Barros, Ángel, Dopazo, Joaquín, Nevado, Julián, Monk, David, Ruiz-Pérez, Víctor L., Lapunzina, Pablo

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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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A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes von Urreizti, Roser, Cueto González, Anna María, Franco Valls, Héctor, Mort Farre, Sílvia, Roca Ayats, Neus, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio, Mattia, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo F, Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M, Neri, Giovanni, Grinberg, Daniel, Balcells, Susana

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A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes von Urreizti, Roser, Cueto González, Anna María, Franco Valls, Héctor, Mort Farre, Sílvia, Roca Ayats, Neus, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio, Mattia, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo F, Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M, Neri, Giovanni, Grinberg, Daniel, Balcells, Susana

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Identification of copy‐number variants in patients with overgrowth disorders von Miranda‐Alcaraz, Lucía, Silván, Cristina, Arias, Pedro, Pozo‐Román, Jesús, Arroyo, Ignacio, Galán, Enrique, Blanquer, Aleixandre, Garcı'a‐Alix, Alfredo, Santana, Alfredo, Alonso, Almudena, Gar‐cía, Ana Patiño, Bredani, Analía, Villavicencio, Andrea, Acosta, Angelina, González, Anna María Cueto, Baldellón, Antonio, Meneses, Antonio González, Gener, Blanca, Groisman, Boris, Perando‐nes, Claudia, Olivas, Cristina, Armenta, Daniel, Elorza, Dolores, Zamora, Elena, Zambrano, Elisa, Steichen, Elisabeth, Cruz, Enrique Caro, Gómez, Enrique Galán, Román, Enriqueta, Goldschmidt, Ernesto, Marfil, Esteban, Antolín, Eugenia, Ramos, Feliciano, Grondona, Fermina López, Martínez, Francisco, Uzielli, Giovannucci, Mercado, Graciela, Cassinelli, Hamilton, Arroyo, Ignacio, Pascual, Ignacio Pascual, Rio, Ignacio Vázquez, Bueno, Inés, Sánchez, Isabel Lorda, Campistol, Jaume, Arcas, Javier, Planells, Javier García, Liria, María José Jiménez, Almeida, José Carlos Cabral, Labarta, José Ignacio, Fuster, José Luis, Gutiérrez, Juan Carlos López, López Siguero, Juan P., Lara, Julián, Arranz, Leonor, Soriano, Leandro, De Alba, Liliana, Mar‐torell, Loreto, Jurado, Luis Pérez, Lozano, M. Ferrer, Merillas, M. Jesús Alija, Pérez, María Asunción García, Segovia, Mabel, Martínez, Margarita, Tabernero, Margarita, Ramos, María Antonia, Ballesta, Maria, Guardia, M. Nieves Martínez, Artigas, Mercedes, Villanueva, Mercedes, Campo, Miguel, Rosello, Mónica, Kantaputra, Nik, Matos, Pablo Prieto, Casano, Paula, Mallada, Paula Lalaguna, Olivares, Pe‐dro, Delgado, Raquel Perez, Bernardi, Priscila, León, Rafael Camino, Villaverde, Raquel Sáez, Gracia, Ricardo, Scott, Richard, Valdez, Rita, Arteaga, Rosa, Cazorla, Rosario, Iglesias, Rosario Marín, Bronberg, Rubén, Barreiro, Santiago Conde, Kapoor, Seema, Lopez, Trinidad García, Vendrell, Teresa, Tirado, Pilar, Huertos, Alicia Ureta, Lotersztein, Vanesa, Martín, Selma Vázquez, Seidel, Verónica, Albiach, Vicente, Soler, Virgina, Cosentino, Viviana, Lapunzina, Pablo

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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder von Parra, Alejandro, Pascual, Patricia, Cazalla, Mario, Arias, Pedro, Gallego-Zazo, Natalia, San-Martín, Esteban A, Silván, Cristina, Santos-Simarro, Fernando, Nevado, Julián, Tenorio-Castano, Jair, Lapunzina, Pablo

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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients von Tenorio, Jair, Alarcon, Pablo, Arias, Pedro, Dapia, Irene, Garcia-Minaur, Sixto, Bralo, Maria Palomares, Campistol, Jaume, Climent, Salvador, Valenzuela, Irene, Ramos, Sergio, Monseny, Antonio Martinez, Grondona, Fermina Lopez, Botet, Javier, Serrano, Mercedes, Solis, Mario, Santos-Simarro, Fernando, Alvarez, Sara, Teixido-Tura, Gisela, Jaen, Alberto Fernandez, Gordo, Gema, Rivera, Maria Belen Bardon, Nevado, Julian, Hernandez, Alicia, Cigudosa, Juan C., Ruiz-Perez, Victor L., Tizzano, Eduardo F., Lapunzina, Pablo

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Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature von Gazdagh, Gabriella, Hunt, David, Gonzalez, Anna Maria Cueto, Rodriguez, Monserrat Pons, Chaudhry, Ayeshah, Madruga, Marcos, Vansenne, Fleur, Shears, Deborah, Curie, Aurore, Stattin, Evalena, Anderlid, Britt-Marie, Trajkova, Slavica, Angelovska, Elena Sukarova, McWilliam, Catherine, Wyatt, Philip R, O'Driscoll, Mary, Atton, Giles, Bergman, Anke K, Zacher, Pia, Mewasingh, Leena D, Lopez, Antonio Gonzalez-Meneses, Alonso-Luengo, Olga, Wai, Htoo A, Rohde, Ottilie, Boiroux, Pauline, Debant, Anne, Schmidt, Susanne, Baralle, Diana

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