Works by Cazalla, Mario

Results: 12
    1

    Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.

    Published in:
    Clinical Genetics, 2025, v. 108, n. 2, p. 224, doi. 10.1111/cge.14761
    By:
    • Parra, Alejandro;
    • Jimenez‐Estrada, Juan A.;
    • Vásquez‐Amell, Valeria;
    • Cazalla, Mario;
    • Rodríguez‐Canó, Manuel;
    • Gallego‐Zazo, Natalia;
    • Miranda, Lucia;
    • Mora‐Gómez, Mónica;
    • Vallespín, Elena;
    • Mena, Rocío;
    • Fernández, Luis;
    • Silván, Cristina;
    • Arias, Pedro;
    • Dominguez‐Jiménez, Marta;
    • Guillén‐Navarro, Encarna;
    • Nevado, Julián;
    • Tenorio‐Castano, Jair;
    • Ruiz‐Pérez, Víctor L.;
    • Lapunzina, Pablo
    Publication type:
    Article
    2

    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
    3

    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
    4

    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
    5

    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
    6
    7
    8

    Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.

    Published in:
    Life (2075-1729), 2024, v. 14, n. 8, p. 1041, doi. 10.3390/life14081041
    By:
    • Sarmiento Doncel, Samuel;
    • Peláez, Ronald Guillermo;
    • Lapunzina, Pablo;
    • Corrales-Medina, Fernando F.;
    • Díaz Mosquera, Gina Alejandra;
    • Bonanad, Santiago;
    • Cortes, Javier Mauricio;
    • Cazalla, Mario;
    • Gallego, Natalia;
    • Querol-Giner, Felipe;
    • Tenorio, Jair;
    • López Guerrero, José A.
    Publication type:
    Article
    9

    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
    10

    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
    11

    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
    12

    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