Simpson-Golabi-Behmel syndrome types I and II

por Tenorio, Jair, Arias, Pedro, Martínez-Glez, Víctor, Santos, Fernando, García-Miñaur, Sixto, Nevado, Julián, Lapunzina, Pablo
Publicado 2014

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

por Sánchez-Montenegro, Carlos, Vilanova-Sánchez, Alejandra, Barrena-Delfa, Saturnino, Tenorio, Jair, Santos-Simarro, Fernando, García-Miñaur, Sixto, Lapunzina, Pablo, Martínez-Martínez, Leopoldo
Publicado 2017

Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

por Lago-Docampo, Mauro, Tenorio, Jair, Hernández-González, Ignacio, Pérez-Olivares, Carmen, Escribano-Subías, Pilar, Pousada, Guillermo, Baloira, Adolfo, Arenas, Miguel, Lapunzina, Pablo, Valverde, Diana
Publicado 2020

Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations

por Santurtún, Maite, Mediavilla-Martinez, Eva, Vega, Ana I., Gallego, Natalia, Heath, Karen E., Tenorio, Jair A., Lapunzina, Pablo, Riancho-Zarrabeitia, Leyre, Riancho, José A.
Publicado 2022

Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years

por Borobia, Alberto M., Dapia, Irene, Tong, Hoi Y., Arias, Pedro, Muñoz, Mario, Tenorio, Jair, Hernández, Rafael, García García, Irene, Gordo, Gema, Ramírez, Elena, Frías, Jesús, Lapunzina, Pablo, Carcas, Antonio J.
Publicado 2017

Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital

por Sandoval-Talamantes, Ana Karen, Mori, María Ángeles, Santos-Simarro, Fernando, García-Miñaur, Sixto, Mansilla, Elena, Tenorio, Jair Antonio, Peña, Carolina, Adan, Carmen, Fernández-Elvira, María, Rueda, Inmaculada, Lapunzina, Pablo, Nevado, Julián
Publicado 2023

Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome

por García‐Santiago, Fe Amalia, Martínez‐Payo, Cristina, Mansilla, Elena, Santos‐Simarro, Fernando, Ruiz de Azua Ballesteros, Miguel, Mori, María Ángeles, Antolín Alvarado, Eugenia, Nieto, Yolanda, Vallcorba, Isabel, Tenorio, Jair, Nevado, Julián, Lapunzina, Pablo
Publicado 2021

The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances

por Monteagudo-Sánchez, Ana, Hernandez Mora, Jose Ramon, Simon, Carlos, Burton, Adam, Tenorio, Jair, Lapunzina, Pablo, Clark, Stephen, Esteller, Manel, Kelsey, Gavin, López-Siguero, Juan Pedro, de Nanclares, Guiomar Perez, Torres-Padilla, Maria-Elena, Monk, David
Publicado 2020

Radiological Findings in Multidetector Computed Tomography (MDCT) of Hereditary and Sporadic Pulmonary Veno-Occlusive Disease: Certainties and Uncertainties

por Pérez Núñez, Marta, Alonso Charterina, Sergio, Pérez-Olivares, Carmen, Revilla Ostolaza, Yolanda, Morales Ruiz, Rafael, Enguita Valls, Ana Belén, Tenorio, Jair Antonio, Gallego Zazo, Natalia, De Pablo Gafas, Alicia, Lapunzina, Pablo, Rodríguez Chaverri, Adriana, Escribano Subías, Pilar
Publicado 2021

A Six-attribute Classification of Genetic Mosaicism

por Martínez-Glez, Víctor, Tenorio, Jair, Nevado, Julián, Gordo, Gema, Rodríguez-Laguna, Lara, Feito, Marta, de Lucas, Raúl, Pérez-Jurado, Luis A., Pérez, Víctor L. Ruiz, Torrelo, Antonio, Spinner, Nancy B., Happle, Rudolf, Biesecker, Leslie G., Lapunzina, Pablo
Publicado 2020

Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4

por Hernandez-Gonzalez, Ignacio, Tenorio, Jair, Palomino-Doza, Julian, Martinez Meñaca, Amaya, Morales Ruiz, Rafael, Lago-Docampo, Mauro, Valverde Gomez, María, Gomez Roman, Javier, Enguita Valls, Ana Belén, Perez-Olivares, Carmen, Valverde, Diana, Gil Carbonell, Joan, Garrido-Lestache Rodríguez-Monte, Elvira, del Cerro, Maria Jesus, Lapunzina, Pablo, Escribano-Subias, Pilar
Publicado 2020

Epigenome-wide association study of COVID-19 severity with respiratory failure

por Castro de Moura, Manuel, Davalos, Veronica, Planas-Serra, Laura, Alvarez-Errico, Damiana, Arribas, Carles, Ruiz, Montserrat, Aguilera-Albesa, Sergio, Troya, Jesús, Valencia-Ramos, Juan, Vélez-Santamaria, Valentina, Rodríguez-Palmero, Agustí, Villar-Garcia, Judit, Horcajada, Juan P., Albu, Sergiu, Casasnovas, Carlos, Rull, Anna, Reverte, Laia, Dietl, Beatriz, Dalmau, David, Arranz, Maria J., Llucià-Carol, Laia, Planas, Anna M., Pérez-Tur, Jordi, Fernandez-Cadenas, Israel, Villares, Paula, Tenorio, Jair, Colobran, Roger, Martin-Nalda, Andrea, Soler-Palacin, Pere, Vidal, Francesc, Pujol, Aurora, Esteller, Manel
Publicado 2021

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

por Baldassarri, Margherita, Picchiotti, Nicola, Fava, Francesca, Fallerini, Chiara, Benetti, Elisa, Daga, Sergio, Valentino, Floriana, Doddato, Gabriella, Furini, Simone, Giliberti, Annarita, Tita, Rossella, Amitrano, Sara, Bruttini, Mirella, Croci, Susanna, Meloni, Ilaria, Pinto, Anna Maria, Iuso, Nicola, Gabbi, Chiara, Sciarra, Francesca, Venneri, Mary Anna, Gori, Marco, Sanarico, Maurizio, Crawley, Francis P., Pagotto, Uberto, Fanelli, Flaminia, Mezzullo, Marco, Dominguez-Garrido, Elena, Planas-Serra, Laura, Schlüter, Agatha, Colobran, Roger, Soler-Palacin, Pere, Lapunzina, Pablo, Tenorio, Jair, Pujol, Aurora, Castagna, Maria Grazia, Marcelli, Marco, Isidori, Andrea M., Renieri, Alessandra, Frullanti, Elisa, Mari, Francesca
Publicado 2021

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

por 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
Publicado 2022

Further delineation of Malan syndrome

por Priolo, Manuela, Schanze, Denny, Tatton‐Brown, Katrin, Mulder, Paul A., Tenorio, Jair, Kooblall, Kreepa, Acero, Inés Hernández, Alkuraya, Fowzan S., Arias, Pedro, Bernardini, Laura, Bijlsma, Emilia K., Cole, Trevor, Coubes, Christine, Dapia, Irene, Davies, Sally, Di Donato, Nataliya, Elcioglu, Nursel H., Fahrner, Jill A., Foster, Alison, González, Noelia García, Huber, Ilka, Iascone, Maria, Kaiser, Ann‐Sophie, Kamath, Arveen, Liebelt, Jan, Lynch, Sally Ann, Maas, Saskia M., Mammì, Corrado, Mathijssen, Inge B., McKee, Shane, Menke, Leonie A., Mirzaa, Ghayda M., Montgomery, Tara, Neubauer, Dorothee, Neumann, Thomas E., Pintomalli, Letizia, Pisanti, Maria Antonietta, Plomp, Astrid S., Price, Sue, Salter, Claire, Santos‐Simarro, Fernando, Sarda, Pierre, Segovia, Mabel, Shaw‐Smith, Charles, Smithson, Sarah, Suri, Mohnish, Valdez, Rita Maria, Van Haeringen, Arie, Van Hagen, Johanna M., Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V., Zenker, Martin, Hennekam, Raoul C.
Publicado 2018