Kết quả tìm kiếm tác giả

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

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

Được phát hành 2012

Tổ chức giáo dục: 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

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

Được phát hành 2014

Tổ chức giáo dục: 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...

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

Được phát hành 2016

Tổ chức giáo dục: 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

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

Được phát hành 2019

Tổ chức giáo dục: Universidad de Costa Rica

Repositorio: Kérwá

5

Kérwá

artículo original

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

Bằng 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.

Được phát hành 2014

Tổ chức giáo dục: Universidad de Costa Rica

Repositorio: Kérwá

6

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

Bằng 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.

Được phát hành 2020

Tổ chức giáo dục: 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

Bằng 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

Được phát hành 2021

Tổ chức giáo dục: 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

Bằng 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.

Được phát hành 2019

Tổ chức giáo dục: 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

Bằng 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.

Được phát hành 2023

Tổ chức giáo dục: 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

Bằng 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.

Được phát hành 2012

Tổ chức giáo dục: Universidad de Costa Rica

Repositorio: Kérwá