Morales F - Search Results

1

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

Morales F, Couto JM, Higham CF, Hogg G, Cuenca P, Braida C, Wilson RH, Adam B, del Valle G, Brian R, Sittenfeld M, Ashizawa T, Wilcox A, Wilcox DE, Monckton DG. Morales F, et al. Hum Mol Genet. 2012 Aug 15;21(16):3558-67. doi: 10.1093/hmg/dds185. Epub 2012 May 16. Hum Mol Genet. 2012. PMID: 22595968

2

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

Morales F, Vásquez M, Cuenca P, Campos D, Santamaría C, Del Valle G, Brian R, Sittenfeld M, Monckton DG. Morales F, et al. Eur J Hum Genet. 2015 May;23(5):646-53. doi: 10.1038/ejhg.2014.138. Epub 2014 Jul 23. Eur J Hum Genet. 2015. PMID: 25052313 Free PMC article.

3

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 patients.

Morales F, Vásquez M, Santamaría C, Cuenca P, Corrales E, Monckton DG. Morales F, et al. DNA Repair (Amst). 2016 Apr;40:57-66. doi: 10.1016/j.dnarep.2016.01.001. Epub 2016 Mar 8. DNA Repair (Amst). 2016. PMID: 26994442

4

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.

Corrales E, Vásquez M, Zhang B, Santamaría-Ulloa C, Cuenca P, Krahe R, Monckton DG, Morales F. Corrales E, et al. Among authors: morales f. PLoS One. 2019 May 2;14(5):e0216407. doi: 10.1371/journal.pone.0216407. eCollection 2019. PLoS One. 2019. PMID: 31048891 Free PMC article. Clinical Trial.

5

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

Morales F, Vásquez M, Corrales E, Vindas-Smith R, Santamaría-Ulloa C, Zhang B, Sirito M, Estecio MR, Krahe R, Monckton DG. Morales F, et al. Hum Mol Genet. 2020 Aug 29;29(15):2496-2507. doi: 10.1093/hmg/ddaa123. Hum Mol Genet. 2020. PMID: 32601694

6

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

Morales F, Corrales E, Zhang B, Vásquez M, Santamaría-Ulloa C, Quesada H, Sirito M, Estecio MR, Monckton DG, Krahe R. Morales F, et al. Hum Mol Genet. 2021 Dec 27;31(2):262-274. doi: 10.1093/hmg/ddab243. Hum Mol Genet. 2021. PMID: 34432028 Free PMC article.

7

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

Morales F, Corrales E, Vásquez M, Zhang B, Fernández H, Alvarado F, Cortés S, Santamaría-Ulloa C, Initiative-Mmdbdi MMDBD, Krahe R, Monckton DG. Morales F, et al. Hum Mol Genet. 2023 Jan 27;32(4):621-631. doi: 10.1093/hmg/ddac231. Hum Mol Genet. 2023. PMID: 36099027 Free article.

8

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

Higham CF, Morales F, Cobbold CA, Haydon DT, Monckton DG. Higham CF, et al. Among authors: morales f. Hum Mol Genet. 2012 Jun 1;21(11):2450-63. doi: 10.1093/hmg/dds059. Epub 2012 Feb 24. Hum Mol Genet. 2012. PMID: 22367968

9

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

Gomes-Pereira M, Hilley JD, Morales F, Adam B, James HE, Monckton DG. Gomes-Pereira M, et al. Among authors: morales f. Nucleic Acids Res. 2014 Jun;42(11):7047-56. doi: 10.1093/nar/gku285. Epub 2014 May 23. Nucleic Acids Res. 2014. PMID: 24860168 Free PMC article.

10

Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.

Morales F, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T. Morales F, et al. Hum Genet. 2007 Nov;122(3-4):413. doi: 10.1007/s00439-007-0411-6. Hum Genet. 2007. PMID: 17717708 No abstract available.

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