Search Results - "López Garrido, P"

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    Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2 by López-Garrido, M-P, Campos-Mollo, E, Harto, M-Á, Escribano, J

    Published in Clinical genetics (01-12-2009)
    “…Primary congenital glaucoma (PCG), a rare, severe and blinding disease, usually results from mutations in the CYP1B1 gene located in chromosome 2p22.2…”
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    Journal Article
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    Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma by López-Garrido, M-P, Blanco-Marchite, C, Sánchez-Sánchez, F, López-Sánchez, E, Chaqués-Alepuz, V, Campos-Mollo, E, Salinas-Sánchez, AS, Escribano, J

    Published in Clinical genetics (01-01-2010)
    “…López‐Garrido M‐P, Blanco‐Marchite C, Sánchez‐Sánchez F, López‐Sánchez E, Chaqués‐Alepuz V, Campos‐Mollo E, Salinas‐Sánchez AS, Escribano J. Functional…”
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    Journal Article
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    Co-inheritance of HNF1a and GCK mutations in a family with maturity-onset diabetes of the young (MODY): implications for genetic testing by López-Garrido, M. P., Herranz-Antolín, S., Alija-Merillas, M. J., Giralt, P., Escribano, J.

    Published in Clinical endocrinology (Oxford) (01-09-2013)
    “…Summary Objective To determine the genetic basis of dominant early‐onset diabetes mellitus in two families. Patients and methods Molecular analysis by PCR…”
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    Journal Article
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    Diabetes de comienzo en la infancia tratada con sulfonilureas by Palomo Atance, E, Ballester Herrera, M.J, Giralt Muiña, P, López Garrido, P

    “…La diabetes MODY ( maturity onset diabetes of the young ) tipo 3 pertenece al grupo de las diabetes monogénicas y está causada por mutaciones en los genes del…”
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    Journal Article
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