Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients

por Vindas Smith, Rebeca, Fiore, Michele, Vásquez Cerdas, Melissa, Cuenca Berger, Patricia, del Valle Carazo, Gerardo, Lagostena, Laura, Gaitán Peñas, Héctor, Estevez Povedano, Raúl, Push, Michael, Morales Montero, Fernando
Publicado 2018

Intermediate and expanded FMR1 alleles in an autistic Costa Rican population

por Vindas Smith, Rebeca, Sequeira Cordero, Andrey, Castro Volio, Isabel, Jiménez González, Patricia, Cuenca Berger, Patricia, Saborío Rocafort, Manuel, Fallas Delgado, Marietha, Vásquez Cerdas, Melissa
Publicado 2022

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenital (Becker disease) carrying a new mutation in the CLCN1 gene

por Morales Montero, Fernando, Cuenca Berger, Patricia, del Valle Carazo, Gerardo, Vásquez Cerdas, Melissa, Brian Gago, Roberto, Sittenfeld Appel, Mauricio, Johnson, Keith, Lin, Xi, Ashizawa, Tetsuo
Publicado 2019

Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1

por Corrales Acuña, Eyleen Vanessa, Vásquez Cerdas, Melissa, Zhang, Baili, Santamaría Ulloa, Carolina, Cuenca Berger, Patricia, Krahe, Ralf, Monckton, Darren G., Morales Montero, Fernando
Publicado 2020

Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1

por Morales Montero, Fernando, Vásquez Cerdas, Melissa, Cuenca Berger, Patricia, Campos Ramírez, Domingo, Santamaría Ulloa, Carolina, del Valle Carazo, Gerardo, Brian Gago, Roberto, Sittenfeld Appel, Mauricio, Monckton, Darren G.
Publicado 2015

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity

por Higham, Catherine, Hogg, Grant, Braida, Claudia, del Valle Carazo, Gerardo, Brian Gago, Roberto, Sittenfeld Appel, Mauricio, Ashizawa, Tetsuo, Wilcox, Alison, Couto, Jillian M., Morales Montero, Fernando, Cuenca Berger, Patricia, Wilson, Richard H., Adam, Berit, Wilcox, Dougals E., Monckton, Darren G.
Publicado 2013

Relation of atrophic gastritis with Helicobacter pylori-CagA+ and interleukin-1 polymorphisms

por Sierra Ramos, Rafaela, Une, Clas Allan, Ramírez Mayorga, Vanessa, Alpízar Alpízar, Warner, González, María I., Ramírez, José A., de Mascarel, Antoine, Cuenca Berger, Patricia, Pérez Pérez, Guillermo Ignacio, Mégraud, Francis
Publicado 2015