Результаты поиска авторов

1

Kérwá

artículo original

High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations

по Higham, Catherine, Morales Montero, Fernando, Cobbold, Christina, Haydon, Daniel, Monckton, Darren G.

Опубликовано 2012

Институт: Universidad de Costa Rica

Repositorio: Kérwá

2

Kérwá

artículo original

Disease-associated CAG·CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion

по Gomes Prereira, Mario, James D., Hilley, Morales Montero, Fernando, Berit, Adam, James, Helen E., Monckton, Darren G.

Опубликовано 2014

Институт: Universidad de Costa Rica

Repositorio: Kérwá

3

Kérwá

artículo original

A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patien...

по Morales Montero, Fernando, Vásquez Cerdas, Melissa, Santamaría Ulloa, Carolina, Cuenca Berger, Patricia, Corrales Acuña, Eyleen Vanessa, Monckton, Darren G.

Опубликовано 2016

Институт: Universidad de Costa Rica

Repositorio: Kérwá

4

Kérwá

artículo original

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

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

Опубликовано 2019

Институт: Universidad de Costa Rica

Repositorio: Kérwá

5

Kérwá

artículo original

Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset

по Morales Montero, Fernando, Vásquez Cerdas, Melissa, Corrales Acuña, Eyleen Vanessa, Vindas Smith, Rebeca, Santamaría Ulloa, Carolina, Zhang, Baili, Sirito, Mario, Estecio, Marcos Roberto, Krahe, Ralf, Monckton, Darren G.

Опубликовано 2020

Институт: Universidad de Costa Rica

Repositorio: Kérwá

6

Kérwá

artículo original

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

по 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.

Опубликовано 2014

Институт: Universidad de Costa Rica

Repositorio: Kérwá

7

Kérwá

artículo original

Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent

по Morales Montero, Fernando, Corrales Acuña, Eyleen Vanessa, Zhang, Baili, Vásquez Cerdas, Melissa, Santamaría Ulloa, Carolina, Quesada Leitón, Hazel Paola, Sirito, Mario, Estecio, Marcos Roberto, Monckton, Darren G., Krahe, Ralf

Опубликовано 2021

Институт: Universidad de Costa Rica

Repositorio: Kérwá

8

Kérwá

artículo original

MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

по Flower, Michael, Lomeikaite, Vilija, Ciosi, Marc, Cumming, Sarah, Morales Montero, Fernando, Lo, Kitty, Hensman Moss, Davina, Jones, Lesley, Holmans, Peter A., TRACK-HD Investigators, OPTIMISTIC Consortium, Monckton, Darren G., Tabrizi, Sarah J.

Опубликовано 2019

Институт: Universidad de Costa Rica

Repositorio: Kérwá

9

Kérwá

artículo original

Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1

по Morales Montero, Fernando, Corrales Acuña, Eyleen Vanessa, Vásquez Cerdas, Melissa, Zhang, Baili, Fernández Morales, Húberth, Alvarado Calderón, Fernando, Cortés Fernández, Sergio, Santamaría Ulloa, Carolina, Marigold Myotonic Dystrophy Biomarkers Discovery Initiative-MMDBDI, Krahe, Ralf, Monckton, Darren G.

Опубликовано 2023

Институт: Universidad de Costa Rica

Repositorio: Kérwá

10

Kérwá

artículo original

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

по 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.

Опубликовано 2012

Институт: Universidad de Costa Rica

Repositorio: Kérwá