Phenotypic spectrum and tumor risk in Simpson‐Golabi‐Behmel syndrome: Case series and comprehensive literature review
Nisbet, Alex F., Viswanathan, Aravind, George, Andrew M., Arias, Pedro, Klein, Steven D., Nevado, Julian, Parra, Alejandro, Pascual, Patricia, Romeo, Dominic J., Tenorio‐Castaño, Jair, Taylor, Jesse A., Zackai, Elaine H., Lapunzina, Pablo, Kalish, Jennifer M.
Published in American journal of medical genetics. Part A (01.12.2024)
Published in American journal of medical genetics. Part A (01.12.2024)
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Journal Article
Adult experiences in Beckwith–Wiedemann syndrome
Drust, William A., Mussa, Alessandro, Gazzin, Andrea, Lapunzina, Pablo, Tenorio‐Castaño, Jair, Nevado, Julian, Pascual, Patricia, Arias, Pedro, Parra, Alejandro, Getz, Kelly D., Kalish, Jennifer M.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2023)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2023)
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Journal Article
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome
Popp, Bernt, Bienvenu, Thierry, Giurgea, Irina, Metreau, Julia, Kraus, Cornelia, Reis, André, Fischer, Jan, Bralo, María Palomares, Tenorio‐Castaño, Jair, Lapunzina, Pablo, Almoguera, Berta, Lopez‐Grondona, Fermina, Sticht, Heinrich, Zweier, Christiane
Published in Clinical genetics (01.12.2022)
Published in Clinical genetics (01.12.2022)
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Journal Article
The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders
Lapunzina, Pablo, Tenorio‐Castaño, Jair, Nevado, Julián, Campos Barros, Ángel, Pachajoa, Harry, Ruiz‐Pérez, Víctor L., Castilla, Eduardo E.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2021)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2021)
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Journal Article
A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies
Álvarez, Luis Francisco González, Tenorio‐Castaño, Jair, Poletta, Fernando A., Santos‐Simarro, Fernando, Arias, Pedro, Gallego, Natalia, Orioli, Iêda Maria, Mundlos, Stefan, Castilla, Eduardo E., Martínez‐Glez, Víctor, Martínez‐Frías, María Luisa, Ruiz‐Pérez, Víctor L., Nevado, Julián, Lapunzina, Pablo
Published in American journal of medical genetics. Part A (01.01.2023)
Published in American journal of medical genetics. Part A (01.01.2023)
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Journal Article
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features
Tenorio‐Castaño, Jair Antonio, Arias, Pedro, Fernández‐Jaén, Alberto, Lay‐Son, Guillermo, Bueno‐Lozano, Gloria, Bayat, Allan, Faivre, Laurence, Gallego, Natalia, Ramos, Sergio, Butler, Kameryn M., Morel, Chantal, Hadjiyannakis, Stasia, Lespinasse, James, Tran‐Mau‐Them, Frederic, Santos‐Simarro, Fernando, Pinson, Lucile, Martínez‐Monseny, Antonio Federico, O'Callaghan Cord, María del Mar, Álvarez, Sara, Stolerman, Elliot S., Washington, Camerun, Ramos, Feliciano J., The S. O. G. R. I. Consortium, Lapunzina, Pablo
Published in Clinical genetics (01.10.2021)
Published in Clinical genetics (01.10.2021)
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Journal Article
Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension
Gallego, Natalia, Cruz-Utrilla, Alejandro, Guillén, Inmaculada, Bonora, Amparo Moya, Ochoa, Nuria, Arias, Pedro, Lapunzina, Pablo, Escribano-Subias, Pilar, Nevado, Julián, Tenorio-Castaño, Jair
Published in Cells (Basel, Switzerland) (15.11.2021)
Published in Cells (Basel, Switzerland) (15.11.2021)
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Journal Article
Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry
Cruz-Utrilla, Alejandro, Gallego-Zazo, Natalia, Tenorio-Castaño, Jair Antonio, Guillén, Inmaculada, Torrent-Vernetta, Alba, Moya-Bonora, Amparo, Labrandero, Carlos, Rodríguez-Monte, María Elvira Garrido-Lestache, Rodríguez-Ogando, Alejandro, Rey, María del Mar Rodríguez Vázquez Del, Espín, Juana, Plata-Izquierdo, Beatriz, Álvarez-Fuente, María, Moreno-Galdó, Antonio, Escribano-Subias, Pilar, Marín, María Jesús Del Cerro
Published in International journal of molecular sciences (09.09.2022)
Published in International journal of molecular sciences (09.09.2022)
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Journal Article
Novel TNIP2 and TRAF2 Variants Are Implicated in the Pathogenesis of Pulmonary Arterial Hypertension
Pienkos, Shaun, Gallego, Natalia, Condon, David F, Cruz-Utrilla, Alejandro, Ochoa, Nuria, Nevado, Julián, Arias, Pedro, Agarwal, Stuti, Patel, Hiral, Chakraborty, Ananya, Lapunzina, Pablo, Escribano, Pilar, Tenorio-Castaño, Jair, de Jesús Pérez, Vinicio A
Published in Frontiers in medicine (30.04.2021)
Published in Frontiers in medicine (30.04.2021)
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Journal Article
Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension
Vera-Zambrano, Alba, Lago-Docampo, Mauro, Gallego, Natalia, Franco-Gonzalez, Juan Felipe, Morales-Cano, Daniel, Cruz-Utrilla, Alejandro, Villegas-Esguevillas, Marta, Fernández-Malavé, Edgar, Escribano-Subías, Pilar, Tenorio-Castaño, Jair Antonio, Perez-Vizcaino, Francisco, Valverde, Diana, González, Teresa, Cogolludo, Angel
Published in American journal of respiratory cell and molecular biology (01.08.2023)
Published in American journal of respiratory cell and molecular biology (01.08.2023)
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Journal Article
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease
Prapa, Matina, Lago-Docampo, Mauro, Swietlik, Emilia M, Montani, David, Eyries, Mélanie, Humbert, Marc, Welch, Carrie L, Chung, Wendy K, Berger, Rolf M F, Bogaard, Harm Jan, Danhaive, Olivier, Escribano-Subías, Pilar, Gall, Henning, Girerd, Barbara, Hernandez-Gonzalez, Ignacio, Holden, Simon, Hunt, David, Jansen, Samara M A, Kerstjens-Frederikse, Wilhelmina, Kiely, David G, Lapunzina, Pablo, McDermott, John, Moledina, Shahin, Pepke-Zaba, Joanna, Polwarth, Gary J, Schotte, Gwen, Tenorio-Castaño, Jair, Thompson, A A Roger, Wharton, John, Wort, Stephen J, Megy, Karyn, Mapeta, Rutendo, Treacy, Carmen M, Martin, Jennifer M, Li, Wei, Swift, Andrew J, Upton, Paul D, Morrell, Nicholas W, Gräf, Stefan, Valverde, Diana
Published in American journal of respiratory and critical care medicine (15.12.2022)
Published in American journal of respiratory and critical care medicine (15.12.2022)
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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
Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH
Eichstaedt, Christina A, Belge, Catharina, Chung, Wendy K, Gräf, Stefan, Grünig, Ekkehard, Montani, David, Quarck, Rozenn, Tenorio-Castano, Jair A, Soubrier, Florent, Trembath, Richard C, Morrell, Nicholas W
Published in The European respiratory journal (01.02.2023)
Published in The European respiratory journal (01.02.2023)
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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
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 (01.12.2024)
Published in Clinical genetics (01.12.2024)
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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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Journal Article
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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Journal Article
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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Journal Article