Search Results - Astiazarán, Mirena C.

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  1. 1
    Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population

    Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population by Macriz-Romero, Nicole, Vera-Duarte, Guillermo Raul, Guerrero-Becerril, Jesus, Chacón-Camacho, Oscar Francisco, Astiazarán, Mirena C, Zenteno, Juan Carlos, Graue-Hernandez, Enrique O.

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  2. 2
    Next generation sequencing‐based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes

    Next generation sequencing‐based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes by Astiazarán, Mirena C., García‐Montaño, Leopoldo A., Sánchez‐Moreno, Francisco, Matiz‐Moreno, Humberto, Zenteno, Juan C.

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  3. 3
    Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation

    Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation by López-Rubio, Salvador, Chacon-Camacho, Oscar F, Matsui, Rodrigo, Guadarrama-Vallejo, Dalia, Astiazarán, Mirena C, Zenteno, Juan C

    Published in Molecular vision
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  4. 4
    PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants

    PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants by Pérez‐Solórzano, Sofía, Chacón‐Camacho, Oscar F, Astiazarán, Mirena C, Ledesma‐Gil, Gerardo, Zenteno, Juan Carlos

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  5. 5
    Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

    Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes by Bhoj, Elizabeth J., Haye, Damien, Toutain, Annick, Bonneau, Dominique, Nielsen, Irene Kibæk, Lund, Ida Bay, Bogaard, Pauline, Leenskjold, Stine, Karaer, Kadri, Wild, Katherine T., Grand, Katheryn L., Astiazaran, Mirena C., Gonzalez-Nieto, Luis A., Carvalho, Ana, Lehalle, Daphné, Amudhavalli, Shivarajan M., Repnikova, Elena, Saunders, Carol, Thiffault, Isabelle, Saadi, Irfan, Li, Dong, Hakonarson, Hakon, Vial, Yoann, Zackai, Elaine, Callier, Patrick, Drunat, Séverine, Verloes, Alain

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