Search Results - "López‐Garrido, M. P."

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

“…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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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

“…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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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.

“…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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Co‐inheritance of HNF 1a 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.

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Autoimmune hemolytic anemia and carcinoma of the larynx: an exceptional association by Garrido López, M P, Artal Cortés, A, Zamora Auñón, P

“…The purpose of this annotation is to review the serological data to diagnosis, severity of the disease, treatment and prognosis of the autoimmune haemolytic…”
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Pleural effusion as the first manifestation of Waldenström's macroglobulinemia by López-Garrido, M P, Cabrera-Torres, A, Gómez Morales, M, Almagro, M, de Pablos, J M, Moratalla, A, González de Vega, J M

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