Listar Medicina, ciencias biomédicas y salud pública por autor "Zhang, Baili"
Mostrando ítems 1-2 de 2
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Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset
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. (2020-06-30)In myotonic dystrophy type 1 (DM1), somatic mosaicism of the (CTG)n repeat expansion is age-dependent, tissue-specific and expansion-biased. These features contribute toward variation in disease severity and confound ... -
Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent
Morales Montero, Fernando; Corrales Acuña, Eyleen Vanessa; Zhang, Baili; Vásquez Cerdas, Melissa; Santamaría Ulloa, Carolina; Quesada Leitón, Hazel; Sirito, Mario; Estecio, Marcos Roberto; Monckton, Darren G.; Krahe, Ralf (2021)Myotonic dystrophy type 1 (DM1) is a complex disease with a wide spectrum of symptoms. The exact relationship between mutant CTG repeat expansion size and clinical outcome remains unclear. DM1 congenital patients (CDM) ...