Search Results - "Cueto González, Anna María"

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype by 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

“…Mosaic Variegated Aneuploidy Syndrome 2 (MVA2; MIM 614114) is a rare autosomal recessive disorder, characterized by mosaic aneuploidies involving multiple…”
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Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord by 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.

“…ZC4H2 (MIM# 300897) is a nuclear factor involved in various cellular processes including proliferation and differentiation of neural stem cells, ventral spinal…”
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Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes by 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.

“…We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from…”
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An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history by 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

“…Clinical exome sequencing has the potential to identify pathogenic variants unrelated to the purpose of the study (secondary findings, SFs). Data describing…”
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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 by 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

“…Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability,…”
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Identification of copy‐number variants in patients with overgrowth disorders by 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

“…Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders whose main characteristic is that the weight, height or the head circumference are above…”
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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder by 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

“…DDX3X is a multifunctional ATP-dependent RNA helicase involved in several processes of RNA metabolism and in other biological pathways such as cell cycle…”
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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients by Tenorio, Jair, Alarcón, Pablo, Arias, Pedro, Dapía, Irene, García-Miñaur, Sixto, Palomares Bralo, María, Campistol, Jaume, Climent, Salvador, Valenzuela, Irene, Ramos, Sergio, Monseny, Antonio Martínez, Grondona, Fermina López, Botet, Javier, Serrano, Mercedes, Solís, Mario, Santos-Simarro, Fernando, Álvarez, Sara, Teixidó-Tura, Gisela, Fernández Jaén, Alberto, Gordo, Gema, Bardón Rivera, María Belén, Nevado, Julián, Hernández, Alicia, Cigudosa, Juan C, Ruiz-Pérez, Víctor L, Tizzano, Eduardo F, Lapunzina, Pablo

“…Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a…”
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New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients by 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

“…Noonan syndrome and related disorders are a group of well-known genetic conditions caused by dysregulation of the Ras/mitogen-activated protein kinase…”
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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles by 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.

“…CREB-binding protein (CBP, encoded by CREBBP) and its paralog E1A-associated protein (p300, encoded by EP300) are involved in histone acetylation and…”
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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 by 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

“…Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability,…”
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Natural history of KBG syndrome in a large European cohort by 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

“…KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more…”
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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations by Szakszon, Katalin, Lourenco, Charles Marques, Callewaert, Bert Louis, Geneviève, David, Rouxel, Flavien, Morin, Denis, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Patterson, Wesley G, Louie, Raymond, Pinto E Vairo, Filippo, Klee, Eric, Kaiwar, Charu, Gavrilova, Ralitza H, Agre, Katherine E, Jacquemont, Sebastien, Khadijé, Jizi, Giltay, Jacques, van Gassen, Koen, Merő, Gabriella, Gerkes, Erica, Van Bon, Bregje W, Rinne, Tuula, Pfundt, Rolph, Brunner, Han G, Caluseriu, Oana, Grasshoff, Ute, Kehrer, Martin, Haack, Tobias B, Khelifa, Melik Malek, Bergmann, Anke Katharina, Cueto-González, Anna Maria, Martorell, Ariadna Campos, Ramachandrappa, Shwetha, Sawyer, Lindsey B, Fasel, Pascale, Braun, Dominique, Isis, Atallah, Superti-Furga, Andrea, McNiven, Vanda, Chitayat, David, Ahmed, Syed Anas, Brennenstuhl, Heiko, Schwaibolf, Eva Mc, Battisti, Gladys, Parmentier, Benoit, Stevens, Servi J C

“…Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the gene…”
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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort by 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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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort by 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.

“…Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally…”
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Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature by 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

“…The TRIO gene encodes a rho guanine exchange factor, the function of which is to exchange GDP to GTP, and hence to activate Rho GTPases, and has been described…”
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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 by 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

“…Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability,…”
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