Works by Tenorio‐Castano, Jair

Results: 29

Genotype–Phenotype Associations in Phelan–McDermid Syndrome: Insights into Novel Genes Beyond SHANK3.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4653, doi. 10.3390/ijms26104653

By:

Nevado, Julian;
Escalada, Blanca;
Muñoz-GªPorrero, Yolanda;
Adan, Carmen;
Tenorio-Castaño, Jair;
Lapunzina, Pablo Daniel

Publication type:

Article

Development of a k-Nearest Neighbors Model for the Prediction of Late-Onset Alzheimer's Risk by Combining Polygenic Risk Scores and Phenotypic Variables.

Published in:

Genes, 2025, v. 16, n. 4, p. 377, doi. 10.3390/genes16040377

By:

Ferreiro López, Sandra;
Ferrero, Rosana;
Blom-Dahl, Jorge;
Alonso-Bernáldez, Marta;
González, Adán;
Pérez-Solero, Guillermo;
Tenorio-Castano, Jair

Publication type:

Article

Mortality in Patients with 22q11.2 Rearrangements.

Published in:

Genes, 2024, v. 15, n. 9, p. 1146, doi. 10.3390/genes15091146

By:

Cilio Arroyuelo, Melisa;
Tenorio-Castano, Jair;
García-Moya, Luis Fernández;
Parra, Alejandro;
Cazalla, Mario;
Gallego, Natalia;
Miranda, Lucía;
Mori, María Ángeles;
García-Gueretta, Luis;
Labrandero, Carlos;
Mansilla, Elena;
Rikeros, Emi;
García-Santiago, Fe;
Vallcorba, Isabel;
Arias, Pedro;
Silván, Cristina;
Deiros Bronte, Lucia;
Nevado, Julián;
Lapunzina, Pablo

Publication type:

Article

NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.

Published in:

Genes, 2023, v. 14, n. 11, p. 2091, doi. 10.3390/genes14112091

By:

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

Publication type:

Article

Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature.

Published in:

Genes, 2023, v. 14, n. 10, p. 1965, doi. 10.3390/genes14101965

By:

Gallego-Zazo, Natalia;
Miranda-Alcaraz, Lucía;
Cruz-Utrilla, Alejandro;
del Cerro Marín, María Jesús;
Álvarez-Fuente, María;
del Mar Rodríguez Vázquez del Rey, María;
Guillén Rodríguez, Inmaculada;
Becerra-Munoz, Victor Manuel;
Moya-Bonora, Amparo;
Ochoa Parra, Nuria;
Parra, Alejandro;
Pascual, Patricia;
Cazalla, Mario;
Silván, Cristina;
Arias, Pedro;
Valverde, Diana;
de Jesús-Pérez, Vinicio;
Lapunzina, Pablo;
Escribano-Subías, Pilar;
Tenorio-Castano, Jair

Publication type:

Article

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1.

Published in:

Genes, 2023, v. 14, n. 10, p. 1878, doi. 10.3390/genes14101878

By:

Peces, Ramón;
Peces, Carlos;
Espinosa, Laura;
Mena, Rocío;
Blanco, Carolina;
Tenorio-Castaño, Jair;
Lapunzina, Pablo;
Nevado, Julián

Publication type:

Article

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.

Published in:

Genes, 2023, v. 14, n. 9, p. 1664, doi. 10.3390/genes14091664

By:

Pascual, Patricia;
Tenorio-Castano, Jair;
Mignot, Cyril;
Afenjar, Alexandra;
Arias, Pedro;
Gallego-Zazo, Natalia;
Parra, Alejandro;
Miranda, Lucia;
Cazalla, Mario;
Silván, Cristina;
Heron, Delphine;
Keren, Boris;
Popa, Ioana;
Palomares, María;
Rikeros, Emi;
Ramos, Feliciano J.;
Almoguera, Berta;
Ayuso, Carmen;
Swafiri, Saoud Tahsin;
Barbero, Ana Isabel Sánchez

Publication type:

Article

Cognitive–Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype–Phenotype Correlationships.

Published in:

Genes, 2023, v. 14, n. 8, p. 1628, doi. 10.3390/genes14081628

By:

Bel-Fenellós, Cristina;
Biencinto-López, Chantal;
Sáenz-Rico, Belén;
Hernández, Adolfo;
Sandoval-Talamantes, Ana Karen;
Tenorio-Castaño, Jair;
Lapunzina, Pablo;
Nevado, Julián

Publication type:

Article

Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature.

Published in:

Genes, 2022, v. 13, n. 5, p. 927, doi. 10.3390/genes13050927

By:

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

Publication type:

Article

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.

Published in:

Genes, 2021, v. 12, n. 5, p. 738, doi. 10.3390/genes12050738

By:

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 Pilar;
Cuscó, Ivón

Publication type:

Article

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Published in:

Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01713-y

By:

Mackay, Deborah J. G.;
Gazdagh, Gabriella;
Monk, David;
Brioude, Frederic;
Giabicani, Eloise;
Krzyzewska, Izabela M.;
Kalish, Jennifer M.;
Maas, Saskia M.;
Kagami, Masayo;
Beygo, Jasmin;
Kahre, Tiina;
Tenorio-Castano, Jair;
Ambrozaitytė, Laima;
Burnytė, Birutė;
Cerrato, Flavia;
Davies, Justin H.;
Ferrero, Giovanni Battista;
Fjodorova, Olga;
Manero-Azua, Africa;
Pereda, Arrate

Publication type:

Article

Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension.

Published in:

American Journal of Respiratory Cell & Molecular Biology, 2023, v. 69, n. 2, p. 147, doi. 10.1165/rcmb.2022-0245OC

By:

Vera-Zambrano, Alba;
Lago-Docampo, Mauro;
Gallego, Natalia;
Felipe Franco-Gonzalez, Juan;
Morales-Cano, Daniel;
Cruz-Utrilla, Alejandro;
Villegas-Esguevillas, Marta;
Fernández-Malavé, Edgar;
Escribano-Subías, Pilar;
Antonio Tenorio-Castaño, Jair;
Perez-Vizcaino, Francisco;
Valverde, Diana;
González, Teresa;
Cogolludo, Angel

Publication type:

Article

AMOTL1‐Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 234, doi. 10.1111/cge.14644

By:

Gallego‐Zazo, Natalia;
Tenorio‐Castano, Jair;
Parra, Alejandro;
Nevado, Julián;
Cazalla, Mario;
Lucas‐Castro, Elsa;
Heath, Karen E.;
Palomares, María;
Soengas, Emma;
Lledín, M. Dolores;
Larrea, Emily;
Olveira, Antonio;
Morte, Beatriz;
Carracedo, Ángel;
Lapunzina, Pablo

Publication type:

Article

Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.

Published in:

Clinical Genetics, 2024, v. 106, n. 6, p. 713, doi. 10.1111/cge.14601

By:

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

Publication type:

Article

Identification of copy‐number variants in patients with overgrowth disorders.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 614, doi. 10.1111/cge.14596

By:

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;
Plasencia, Antonio;
Rosa, Alberto L.

Publication type:

Article

Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 637, doi. 10.1111/cge.14423

By:

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

Publication type:

Article

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome.

Published in:

Clinical Genetics, 2022, v. 102, n. 6, p. 517, doi. 10.1111/cge.14206

By:

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

Publication type:

Article

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 405, doi. 10.1111/cge.14020

By:

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.

Publication type:

Article

Phenotypic spectrum and tumor risk in Simpson‐Golabi‐Behmel syndrome: Case series and comprehensive literature review.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63840

By:

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.

Publication type:

Article

A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 100, doi. 10.1002/ajmg.a.62994

By:

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

Publication type:

Article

Phenotype and psychometric characterization of Phelan-McDermid syndrome patients: pioneering towards personalized medicine.

Published in:

Frontiers in Psychiatry, 2025, p. 1, doi. 10.3389/fpsyt.2025.1511962

By:

Nevado, Julián;
Ciceri, Filippo;
Bel-Fenellós, Cristina;
Tenorio-Castaño, Jair A.;
Maes, Tamara;
Xaus, Jordi;
Buesa, Carlos;
Lapunzina, Pablo

Publication type:

Article

Adult experiences in Beckwith–Wiedemann syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 2, p. 116, doi. 10.1002/ajmg.c.32046

By:

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.

Publication type:

Article

The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 186, doi. 10.1002/ajmg.c.31916

By:

Lapunzina, Pablo;
Tenorio‐Castaño, Jair;
Nevado, Julián;
Campos Barros, Ángel;
Pachajoa, Harry;
Ruiz‐Pérez, Víctor L.;
Castilla, Eduardo E.

Publication type:

Article

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.

Published in:

Cancers, 2022, v. 14, n. 15, p. 3807, doi. 10.3390/cancers14153807

By:

Cardoso, Leila Cabral de Almeida;
Parra, Alejandro;
Gil, Cristina Ríos;
Arias, Pedro;
Gallego, Natalia;
Romanelli, Valeria;
Kantaputra, Piranit Nik;
Lima, Leonardo;
Llerena Júnior, Juan Clinton;
Arberas, Claudia;
Guillén-Navarro, Encarna;
Nevado, Julián;
Tenorio-Castano, Jair;
Lapunzina, Pablo

Publication type:

Article

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.

Published in:

Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01358-9

By:

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

Publication type:

Article

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.

Published in:

Clinical Epigenetics, 2022, v. 14, p. 1, doi. 10.1186/s13148-022-01292-w

By:

Pignata, Laura;
Cecere, Francesco;
Verma, Ankit;
Hay Mele, Bruno;
Monticelli, Maria;
Acurzio, Basilia;
Giaccari, Carlo;
Sparago, Angela;
Hernandez Mora, Jose Ramon;
Monteagudo-Sánchez, Ana;
Esteller, Manel;
Pereda, Arrate;
Tenorio-Castano, Jair;
Palumbo, Orazio;
Carella, Massimo;
Prontera, Paolo;
Piscopo, Carmelo;
Accadia, Maria;
Lapunzina, Pablo;
Cubellis, Maria Vittoria

Publication type:

Article

Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension.

Published in:

Cells (2073-4409), 2021, v. 10, n. 11, p. 3178, doi. 10.3390/cells10113178

By:

Gallego, Natalia;
Cruz-Utrilla, Alejandro;
Guillén, Inmaculada;
Bonora, Amparo Moya;
Ochoa, Nuria;
Arias, Pedro;
Lapunzina, Pablo;
Escribano-Subias, Pilar;
Nevado, Julián;
Tenorio-Castaño, Jair

Publication type:

Article

Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease.

Published in:

Cells (2073-4409), 2021, v. 10, n. 6, p. 1488, doi. 10.3390/cells10061488

By:

Hernandez-Gonzalez, Ignacio;
Tenorio-Castano, Jair;
Ochoa-Parra, Nuria;
Gallego, Natalia;
Pérez-Olivares, Carmen;
Lago-Docampo, Mauro;
Palomino Doza, Julian;
Valverde, Diana;
Lapunzina, Pablo;
Escribano-Subias, Pilar

Publication type:

Article

Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810433

By:

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

Publication type:

Article