Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
Estañ, María Cristina, Fernández-Núñez, Elisa, Zaki, Maha S, Esteban, María Isabel, Donkervoort, Sandra, Hawkins, Cynthia, Caparros-Martin, José A, Saade, Dimah, Hu, Ying, Bolduc, Véronique, Chao, Katherine Ru-Yui, Nevado, Julián, Lamuedra, Ana, Largo, Raquel, Herrero-Beaumont, Gabriel, Regadera, Javier, Hernandez-Chico, Concepción, Tizzano, Eduardo F, Martinez-Glez, Victor, Carvajal, Jaime J, Zong, Ruiting, Nelson, David L, Otaify, Ghada A, Temtamy, Samia, Aglan, Mona, Issa, Mahmoud, Bönnemann, Carsten G, Lapunzina, Pablo, Yoon, Grace, Ruiz-Perez, Victor L
Published in Nature communications (15.02.2019)
Published in Nature communications (15.02.2019)
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A six-attribute classification of genetic mosaicism
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Published in Genetics in medicine (01.11.2020)
Published in Genetics in medicine (01.11.2020)
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Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling
Eggermann, Thomas, Brioude, Frédéric, Russo, Silvia, Lombardi, Maria P, Bliek, Jet, Maher, Eamonn R, Larizza, Lidia, Prawitt, Dirk, Netchine, Irène, Gonzales, Marie, Grønskov, Karen, Tümer, Zeynep, Monk, David, Mannens, Marcel, Chrzanowska, Krystyna, Walasek, Malgorzata K, Begemann, Matthias, Soellner, Lukas, Eggermann, Katja, Tenorio, Jair, Nevado, Julián, Moore, Gudrun E, Mackay, Deborah Jg, Temple, Karen, Gillessen-Kaesbach, Gabriele, Ogata, Tsutomu, Weksberg, Rosanna, Algar, Elizabeth, Lapunzina, Pablo
Published in European journal of human genetics : EJHG (01.06.2016)
Published in European journal of human genetics : EJHG (01.06.2016)
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Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene
Tenorio-Castano, Jair, Mansilla Aparicio, Elena, García Santiago, Fe Amalia, Klotz, Cherise M, Regojo, Rita María, Anguita, Estefanía, Ryan, Erin, Juusola, Jane, Herrero, Beatriz, Arias, Pedro, Parra, Alejandro, Pascual, Patricia, Gallego, Natalia, Cazalla, Mario, Rodriguez-González, Roberto, Antolín, Eugenia, Nevado, Julián, Ruiz-Perez, Víctor L, Lapunzina, Pablo
Published in Clinical genetics (27.08.2024)
Published in Clinical genetics (27.08.2024)
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Identification of copy‐number variants in patients with overgrowth disorders
Parra, Alejandro, Tenorio‐Castano, Jair, Nevado, Julián, Cazalla, Mario, Miranda‐Alcaraz, Lucía, Gallego‐Zazo, Natalia, Silván, Cristina, Arias, Pedro, Pozo‐Román, Jesús, Ballesta‐Martínez, María Juliana, Guillén‐Navarro, Encarna, Arroyo, Ignacio, Lotersztein, Vanesa, Cosentino, Viviana, González‐Meneses, Antonio, Galán, Enrique, Rosell, Jordi, Ramos, Feliciano, Lapunzina, Pablo
Published in Clinical genetics (01.08.2024)
Published in Clinical genetics (01.08.2024)
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Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
Horn, Denise, Fernández-Núñez, Elisa, Gomez-Carmona, Ricardo, Rivera-Barahona, Ana, Nevado, Julian, Schwartzmann, Sarina, Ehmke, Nadja, Lapunzina, Pablo, Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Boschann, Felix, Ruiz-Perez, Victor L.
Published in Genetics in medicine (01.04.2021)
Published in Genetics in medicine (01.04.2021)
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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
Nevado, Julián, García-Miñaúr, Sixto, Palomares-Bralo, María, Vallespín, Elena, Guillén-Navarro, Encarna, Rosell, Jordi, Bel-Fenellós, Cristina, Mori, María Ángeles, Milá, Montserrat, Del Campo, Miguel, Barrúz, Pilar, Santos-Simarro, Fernando, Obregón, Gabriela, Orellana, Carmen, Pachajoa, Harry, Tenorio, Jair Antonio, Galán, Enrique, Cigudosa, Juan C, Moresco, Angélica, Saleme, César, Castillo, Silvia, Gabau, Elisabeth, Pérez-Jurado, Luis, Barcia, Ana, Martín, Maria Soledad, Mansilla, Elena, Vallcorba, Isabel, García-Murillo, Pedro, Cammarata-Scalisi, Franco, Gonçalves Pereira, Natálya, Blanco-Lago, Raquel, Serrano, Mercedes, Ortigoza-Escobar, Juan Dario, Gener, Blanca, Seidel, Verónica Adriana, Tirado, Pilar, Lapunzina, Pablo
Published in Frontiers in genetics (12.04.2022)
Published in Frontiers in genetics (12.04.2022)
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Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases
Bueno, Anibal, Rodríguez-López, Rocío, Reyes-Palomares, Armando, Rojano, Elena, Corpas, Manuel, Nevado, Julián, Lapunzina, Pablo, Sánchez-Jiménez, Francisca, Ranea, Juan A G
Published in European journal of human genetics : EJHG (01.10.2018)
Published in European journal of human genetics : EJHG (01.10.2018)
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Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review
Tenorio-Castaño, Jair, Morte, Beatriz, Nevado, Julián, Martinez-Glez, Víctor, Santos-Simarro, Fernando, García-Miñaúr, Sixto, Palomares-Bralo, María, Pacio-Míguez, Marta, Gómez, Beatriz, Arias, Pedro, Alcochea, Alba, Carrión, Juan, Arias, Patricia, Almoguera, Berta, López-Grondona, Fermina, Lorda-Sanchez, Isabel, Galán-Gómez, Enrique, Valenzuela, Irene, Méndez Perez, María, Cuscó, Ivón, Barros, Francisco, Pié, Juan, Ramos, Sergio, Ramos, Feliciano, Kuechler, Alma, Tizzano, Eduardo, Ayuso, Carmen, Kaiser, Frank, Pérez-Jurado, Luis, Carracedo, Ángel, Lapunzina, Pablo
Published in Genes (13.05.2021)
Published in Genes (13.05.2021)
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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain
Verdin, Hannah, D'haene, Barbara, Beysen, Diane, Novikova, Yana, Menten, Björn, Sante, Tom, Lapunzina, Pablo, Nevado, Julian, Carvalho, Claudia M B, Lupski, James R, De Baere, Elfride
Published in PLoS genetics (01.03.2013)
Published in PLoS genetics (01.03.2013)
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Spontaneous remission in a child with an NPHS1 -based congenital nephrotic syndrome
Espinosa, Laura Garcia, Santo-vena, Alejandro Zarauza, Blanco, Julian Nevado, Alvarino, Mar Gutierrez, Feito, Juan Bravo, Hijosa, Marta Melgosa
Published in Clinical kidney journal (01.10.2022)
Published in Clinical kidney journal (01.10.2022)
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Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature
Ziats, Catherine A., Jain, Lavanya, McLarney, Brittany, Vandenboom, Emily, DuPont, Barbara R., Rogers, Curtis, Sarasua, Sara, Nevado, Julian, Cordisco, Emanuela Lucci, Phelan, Katy, Boccuto, Luigi
Published in European journal of medical genetics (01.11.2020)
Published in European journal of medical genetics (01.11.2020)
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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
Mackay, Deborah, Bliek, Jet, Kagami, Masayo, Tenorio-Castano, Jair, Pereda, Arrate, Brioude, Frédéric, Netchine, Irène, Papingi, Dzhoy, de Franco, Elisa, Lever, Margaret, Sillibourne, Julie, Lombardi, Paola, Gaston, Véronique, Tauber, Maithé, Diene, Gwenaelle, Bieth, Eric, Fernandez, Luis, Nevado, Julian, Tümer, Zeynep, Riccio, Andrea, Maher, Eamonn R, Beygo, Jasmin, Tannorella, Pierpaola, Russo, Silvia, de Nanclares, Guiomar Perez, Temple, I. Karen, Ogata, Tsutomu, Lapunzina, Pablo, Eggermann, Thomas
Published in Clinical epigenetics (07.11.2022)
Published in Clinical epigenetics (07.11.2022)
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A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation
Candelo, Estephania, Sanz, Ana Maria, Ramirez-Montaño, Diana, Diaz-Ordoñez, Lorena, Granados, Ana Maria, Rosso, Fernando, Nevado, Julian, Lapunzina, Pablo, Pachajoa, Harry
Published in Frontiers in genetics (19.03.2021)
Published in Frontiers in genetics (19.03.2021)
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PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome
Nevado, Julián, Rosenfeld, Jill A, Mena, Rocío, Palomares-Bralo, María, Vallespín, Elena, Ángeles Mori, María, Tenorio, Jair A, Gripp, Karen W, Denenberg, Elizabeth, Del Campo, Miguel, Plaja, Alberto, Martín-Arenas, Rubén, Santos-Simarro, Fernando, Armengol, Lluis, Gowans, Gordon, Orera, María, Sanchez-Hombre, M Carmen, Corbacho-Fernández, Esther, Fernández-Jaén, Alberto, Haldeman-Englert, Chad, Saitta, Sulagna, Dubbs, Holly, Bénédicte, Duban B, Li, Xia, Devaney, Lani, Dinulos, Mary Beth, Vallee, Stephanie, Crespo, M Carmen, Fernández, Blanca, Fernández-Montaño, Victoria E, Rueda-Arenas, Inmaculada, de Torres, María Luisa, Ellison, Jay W, Raskin, Salmo, Venegas-Vega, Carlos A, Fernández-Ramírez, Fernando, Delicado, Alicia, García-Miñaúr, Sixto, Lapunzina, Pablo
Published in European journal of human genetics : EJHG (01.12.2015)
Published in European journal of human genetics : EJHG (01.12.2015)
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Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis
Limeres, Jacobo, Serrano, Candela, De Nova, Joaquin Manuel, Silvestre-Rangil, Javier, Machuca, Guillermo, Maura, Isabel, Cruz Ruiz-Villandiego, Jose, Diz, Pedro, Blanco-Lago, Raquel, Nevado, Julian, Diniz-Freitas, Marcio
Published in Journal of clinical medicine (04.11.2020)
Published in Journal of clinical medicine (04.11.2020)
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16p11.2 Microdeletion: first report in Argentina
Tardivo, Agostina, Masotto, Bárbara, Espeche, Lucía, Solari, Andrea P, Nevado, Julián, Rozental, Sandra
Published in Archivos argentinos de pediatría (01.12.2017)
Published in Archivos argentinos de pediatría (01.12.2017)
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First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities
Candelo, Estephania, Caicedo, Gabriela, Rosso, Fernando, Ballesteros, Adriana, Orrego, Jaime, Escobar, Luis, Lapunzina, Pablo, Nevado, Julían, Pachajoa, Harry
Published in Application of clinical genetics (01.01.2019)
Published in Application of clinical genetics (01.01.2019)
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Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier
Delicado, Alicia, Fernández, Luis, de Torres, María Luisa, Nevado, Julián, García-Santiago, Fe Amalia, Rodríguez, Roberto, Mansilla, Elena, Palomares, María, Santos-Simarro, Fernando, Vallespín, Elena, Mori, María Ángeles, Lapunzina, Pablo
Published in BMC genetics (29.10.2014)
Published in BMC genetics (29.10.2014)
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Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients
Cardoso, Leila C A, Tenorio Castaño, Jair A, Pereira, Hanna S, Lima, Maria Angélica de F D, Dos Santos, Anna Cláudia E, de Faria, Paulo S, Ferman, Sima, Seuánez, Héctor N, Nevado, Julián B, de Almeida, José Carlos Cabral, Lapunzina, Pablo, Vargas, Fernando R
Published in Genetics and molecular biology (2012)
Published in Genetics and molecular biology (2012)
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