Found: 8

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  • 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

  • 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

  • Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 2, p. 140, doi. 10.1111/cge.14440
    By:
    • Parra, Alejandro;
    • Pascual, Patricia;
    • Cazalla, Mario;
    • Arias, Pedro;
    • Gallego‐Zazo, Natalia;
    • San‐Martín, Esteban A.;
    • Silván, Cristina;
    • Santos‐Simarro, Fernando;
    • Plasencia, Antonio;
    • Rosa, Alberto L.;
    • Blanquer, Aleixandre;
    • Garcı'a‐Alix, Alfredo;
    • Santana, Alfredo;
    • Delicado, Alicia;
    • Alonso, Almudena;
    • Rodriguez, Amaya;
    • Sanchis, Amparo;
    • Moreno, Ana;
    • Gar‐cía, Ana Patiño;
    • Vega, Ana
    Publication type:
    Article

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

    Published in:
    Diagnostics (2075-4418), 2021, v. 11, n. 1, p. 141, doi. 10.3390/diagnostics11010141
    By:
    • 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
    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

  • 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

  • Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.

    Published in:
    Genes, 2023, v. 14, n. 6, p. 1179, doi. 10.3390/genes14061179
    By:
    • Parra, Alejandro;
    • Rabin, Rachel;
    • Pappas, John;
    • Pascual, Patricia;
    • Cazalla, Mario;
    • Arias, Pedro;
    • Gallego-Zazo, Natalia;
    • Santana, Alfredo;
    • Arroyo, Ignacio;
    • Artigas, Mercè;
    • Pachajoa, Harry;
    • Alanay, Yasemin;
    • Akgun-Dogan, Ozlem;
    • Ruaud, Lyse;
    • Couque, Nathalie;
    • Levy, Jonathan;
    • Porras-Hurtado, Gloria Liliana;
    • Santos-Simarro, Fernando;
    • Ballesta-Martinez, Maria Juliana;
    • Guillén-Navarro, Encarna
    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