Found: 7

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  • Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.

    Published in:
    Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.645595
    By:
    • Nevado, Julián;
    • Bel-Fenellós, Cristina;
    • Sandoval-Talamantes, Ana Karen;
    • Hernández, Adolfo;
    • Biencinto-López, Chantal;
    • Martínez-Fernández, María Luisa;
    • Barrúz, Pilar;
    • Santos-Simarro, Fernando;
    • Mori-Álvarez, María Ángeles;
    • Mansilla, Elena;
    • García-Santiago, Fé Amalia;
    • Valcorba, Isabel;
    • Sáenz-Rico, Belén;
    • Martínez-Frías, María Luisa;
    • Lapunzina, Pablo
    Publication type:
    Article

  • Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.

    Published in:
    Human Mutation, 2020, v. 41, n. 1, p. 265, doi. 10.1002/humu.23921
    By:
    • Palencia‐Campos, Adrián;
    • Martínez‐Fernández, María‐Luisa;
    • Altunoglu, Umut;
    • Soto‐Bielicka, Patricia;
    • Torres, Antonio;
    • Marín, Purificación;
    • Aller, Elena;
    • Şentürk, Leyli;
    • Berköz, Ömer;
    • Yıldıran, Mehmet;
    • Kayserili, Hülya;
    • Gil‐Camarero, Elena;
    • Colli‐Lista, Gloria;
    • Sanchís‐Calvo, Amparo;
    • Carretero, Alba;
    • Guillén‐Navarro, Encarna;
    • López‐González, Vanesa;
    • Ballesta‐Martínez, María;
    • Rosell, Jordi;
    • Aglan, Mona S.
    Publication type:
    Article

  • Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2034, doi. 10.1002/ajmg.a.37117
    By:
    • Martínez‐Fernández, María Luisa;
    • Fernández‐Toral, Joaquin;
    • Llano‐Rivas, Isabel;
    • Bermejo‐Sánchez, Eva;
    • MacDonald, Alexandra;
    • Martínez‐Frías, María Luisa
    Publication type:
    Article

  • Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1243, doi. 10.1002/ajmg.a.36878
    By:
    • Arroyo‐Carrera, Ignacio;
    • de Zaldívar Tristancho, María Solo;
    • Bermejo‐Sánchez, Eva;
    • Martínez‐Fernández, María Luisa;
    • López‐Lafuente, Amparo;
    • MacDonald, Alexandra;
    • Zúñiga, Ángel;
    • Luis Gómez‐Skarmeta, José;
    • Luisa Martínez‐Frías, María
    Publication type:
    Article

  • Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 639, doi. 10.1002/ajmg.a.36330
    By:
    • Martínez‐Frías, María Luisa;
    • Ocejo‐Vinyals, Javier Gonzalo;
    • Arteaga, Rosa;
    • Martínez‐Fernández, María Luisa;
    • MacDonald, Alexandra;
    • Pérez‐Belmonte, Elena;
    • Bermejo‐Sánchez, Eva;
    • Martínez, Salvador
    Publication type:
    Article

  • Haploinsufficiency of BMP 4 gene may be the underlying cause of Frías syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 338, doi. 10.1002/ajmg.a.36224
    By:
    • Martínez‐Fernández, María Luisa;
    • Bermejo‐Sánchez, Eva;
    • Fernández, Belén;
    • MacDonald, Alexandra;
    • Fernández‐Toral, Joaquín;
    • Martínez‐Frías, María Luisa
    Publication type:
    Article

  • A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2281, doi. 10.1002/ajmg.a.35862
    By:
    • Carrascosa ‐ Romero, María CarmEN;
    • Suela, Javier;
    • Pardal ‐ Fernández, José Manuel;
    • Bermejo ‐ Sánchez, Eva;
    • Vidal ‐ Company, Alberto;
    • MacDonald, Alexandra;
    • Tébar ‐ Gil, Roque;
    • Martínez ‐ Fernández, María Luisa;
    • Martínez ‐ Frías, María Luisa
    Publication type:
    Article