Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection
Pérez, Elisabet Matas, Torbay, Andrea González, López, Mario Solis, Cámara, Ricardo Cuesta Martín, Jiménez, Carmen Rodríguez, Álvarez, Mari Ángeles Mori, Blanco, Julián Nevado, Gianelli, Carla, Hijón, Carmen Cámara, Granados, Eduardo López, Pena, Rebeca Rodríguez, Pozo Mate, Ángela, García‐Morato, María Bravo
Published in European journal of clinical investigation (01.06.2024)
Published in European journal of clinical investigation (01.06.2024)
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Journal Article
Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early‐onset and fast cyst progression
Peces, Ramón, Mena, Rocio, Peces, Carlos, Cuesta, Emilio, Selgas, Rafael, Barruz, Pilar, Lapunzina, Pablo, Nevado, Julián
Published in Clinical genetics (01.06.2020)
Published in Clinical genetics (01.06.2020)
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Journal Article
Longitudinal Changes in Epigenetic Age Acceleration in Aviremic Human Immunodeficiency Virus–Infected Recipients of Long-term Antiretroviral Treatment
Esteban-Cantos, Andrés, Montejano, Rocio, Rodríguez-Centeno, Javier, Saiz-Medrano, Gabriel, De Miguel, Rosa, Barruz, Pilar, Bernardino, Jose I, Mena-Garay, Beatriz, Cadiñanos, Julen, Jiménez-González, María, Nevado, Julián, Valencia, Eulalia, Mayoral-Muñoz, Mario, Arribas, Jose R, Rodés, Berta
Published in The Journal of infectious diseases (18.01.2022)
Published in The Journal of infectious diseases (18.01.2022)
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Journal Article
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia
Iturrate, Asier, Rivera-Barahona, Ana, Flores, Carmen-Lisset, Otaify, Ghada A., Elhossini, Rasha, Perez-Sanz, Marina L., Nevado, Julián, Tenorio-Castano, Jair, Triviño, Juan Carlos, Garcia-Gonzalo, Francesc R., Piceci-Sparascio, Francesca, De Luca, Alessandro, Martínez, Leopoldo, Kalaycı, Tugba, Lapunzina, Pablo, Altunoglu, Umut, Aglan, Mona, Abdalla, Ebtesam, Ruiz-Perez, Victor L.
Published in American journal of human genetics (06.10.2022)
Published in American journal of human genetics (06.10.2022)
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Journal Article
Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency
Tenorio‐Castano, Jair, Gómez, Ángela Sánchez‐Algaba, Coronado, Mónica, Rodríguez‐Martín, Pilar, Parra, Alejandro, Pascual, Patricia, Cazalla, Mario, Gallego, Natalia, Arias, Pedro, Morales, Aixa V., Nevado, Julián, Lapunzina, Pablo
Published in Clinical genetics (01.12.2023)
Published in Clinical genetics (01.12.2023)
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Journal Article
NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital
Sandoval-Talamantes, Ana Karen, Tenorio-Castaño, Jair Antonio, Santos-Simarro, Fernando, Adán, Carmen, Fernández-Elvira, María, García-Fernández, Laura, Muñoz, Yolanda, Lapunzina, Pablo, Nevado, Julián
Published in Genes (01.11.2023)
Published in Genes (01.11.2023)
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Journal Article
Cognitive–Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype–Phenotype Correlationships
Bel-Fenellós, Cristina, Biencinto-López, Chantal, Sáenz-Rico, Belén, Hernández, Adolfo, Sandoval-Talamantes, Ana Karen, Tenorio-Castaño, Jair, Lapunzina, Pablo, Nevado, Julián
Published in Genes (01.08.2023)
Published in Genes (01.08.2023)
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Journal Article
A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1
Peces, Ramón, Peces, Carlos, Espinosa, Laura, Mena, Rocío, Blanco, Carolina, Tenorio-Castaño, Jair, Lapunzina, Pablo, Nevado, Julián
Published in Genes (27.09.2023)
Published in Genes (27.09.2023)
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Journal Article
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
Rodriguez-Laguna, Lara, Ibañez, Kristina, Gordo, Gema, Garcia-Minaur, Sixto, Santos-Simarro, Fernando, Agra, Noelia, Vallespín, Elena, Fernández-Montaño, Victoria E, Martín-Arenas, Rubén, Del Pozo, Ángela, González-Pecellín, Héctor, Mena, Rocío, Rueda-Arenas, Inmaculada, Gomez, María V, Villaverde, Cristina, Bustamante, Ana, Ayuso, Carmen, Ruiz-Perez, Víctor L, Nevado, Julián, Lapunzina, Pablo, Lopez-Gutierrez, Juan C, Martinez-Glez, Victor
Published in Genetics in medicine (01.08.2018)
Published in Genetics in medicine (01.08.2018)
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Journal Article
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH
Blanco-Kelly, Fiona, Palomares, María, Vallespín, Elena, Villaverde, Cristina, Martín-Arenas, Rubén, Vélez-Monsalve, Camilo, Lorda-Sánchez, Isabel, Nevado, Julián, Trujillo-Tiebas, María José, Lapunzina, Pablo, Ayuso, Carmen, Corton, Marta
Published in PloS one (23.02.2017)
Published in PloS one (23.02.2017)
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Journal Article
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, Weksberg, Rosanna
Published in American journal of human genetics (06.10.2022)
Published in American journal of human genetics (06.10.2022)
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Journal Article
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
Blackburn, Patrick R, Zepeda-Mendoza, Cinthya J, Kruisselbrink, Teresa M, Schimmenti, Lisa A, García-Miñaur, Sixto, Palomares, María, Nevado, Julián, Mori, María A, Le Meur, Guylène, Klee, Eric W, Le Caignec, Cédric, Lapunzina, Pablo, Isidor, Bertrand, Babovic-Vuksanovic, Dusica
Published in European journal of human genetics : EJHG (01.09.2019)
Published in European journal of human genetics : EJHG (01.09.2019)
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Journal Article
Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers
Berrocoso, Sarah, Amayra, Imanol, Lázaro, Esther, Martínez, Oscar, López-Paz, Juan Francisco, García, Maitane, Pérez, Manuel, Al-Rashaida, Mohammad, Rodríguez, Alicia Aurora, Luna, Paula Maria, Pérez-Núéez, Paula, Blanco, Raquel, Nevado, Julián
Published in Orphanet journal of rare diseases (19.10.2020)
Published in Orphanet journal of rare diseases (19.10.2020)
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Journal Article
Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome
Sabria-Back, Joan, Monteagudo-Sánchez, Ana, Sánchez-Delgado, Marta, Ferguson-Smith, Anne C, Gómez, Olga, Pertierra Cartada, Africa, Tenorio, Jair, Nevado, Julián, Lapunzina, Pablo, Pereda Aguirre, Arrate, Giménez Sevilla, Carles, Toro Toro, Estefanía, Perez de Nanclares, Guiomar, Monk, David
Published in Journal of medical genetics (01.03.2022)
Published in Journal of medical genetics (01.03.2022)
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Journal Article
Diverse mutational spectrum in the 13q14 chromosomal region in a Brazilian cohort of retinoblastoma
Mendonça, Vanessa, Pereira Sena, Priscila, Evangelista dos Santos, Anna Claudia, Rodrigues Bonvicino, Cibele, Ashton-Prolla, Patricia, Epelman, Sidnei, Ferman, Sima Esther, Lapunzina, Pablo, Nevado, Julián, Grigorovski, Nathalia, Mattosinho, Clarissa, Seuànez, Hector, Regla Vargas, Fernando
Published in Experimental eye research (01.11.2022)
Published in Experimental eye research (01.11.2022)
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Journal Article
Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management
Cammarata-Scalisi, Francisco, Callea, Michele, Martinelli, Diego, Willoughby, Colin Eric, Tadich, Antonio Cárdenas, Araya Castillo, Maykol, Lacruz-Rengel, María Angelina, Medina, Marco, Grimaldi, Piercesare, Bertini, Enrico, Nevado, Julián
Published in Genes (12.03.2022)
Published in Genes (12.03.2022)
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Journal Article
Haemophilia B, severe childhood obesity and other extra‐haematological features associated with similar 4Mb‐deletions on Xq27: Clinical findings, molecular insights and literature update
Radic, Claudia P., Abelleyro, Miguel M., Ziegler, Betiana, Marchione, Vanina D., Nevado, Julián, Lapunzina, Pablo, Sciuccati, Gabriela, Neme, Daniela, Rossetti, Liliana C., Bonduel, Mariana, De Brasi, Carlos D.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2023)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2023)
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Journal Article
Analysis of complex structural variants in the DMD gene in one family
Luce, Leonela, Abelleyro, Martín M., Carcione, Micaela, Mazzanti, Chiara, Rossetti, Liliana, Radic, Pamela, Szijan, Irene, Menazzi, Sebastián, Francipane, Liliana, Nevado, Julián, Lapunzina, Pablo, De Brasi, Carlos, Giliberto, Florencia
Published in Neuromuscular disorders : NMD (01.03.2021)
Published in Neuromuscular disorders : NMD (01.03.2021)
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Journal Article
Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature
Gallego-Zazo, Natalia, Cruz-Utrilla, Alejandro, Del Cerro, María Jesús, Ochoa Parra, Nuria, Blanco, Julián Nevado, Arias, Pedro, Lapunzina, Pablo, Escribano-Subias, Pilar, Tenorio-Castaño, Jair
Published in Genes (22.05.2022)
Published in Genes (22.05.2022)
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