Cuenca P - Search Results

1

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. Among authors: cuenca p. 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.

2

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. Among authors: cuenca p. 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

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. Among authors: cuenca p. 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: cuenca p. 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

Disabilities caused by unstable mutations in Costa Rica.

Cuenca P, Morales F, Castro I. Cuenca P, et al. Rev Biol Trop. 2004 Sep;52(3):501-5. doi: 10.15517/rbt.v1i2.15288. Rev Biol Trop. 2004. PMID: 17361543

6

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. Among authors: cuenca p. Hum Genet. 2007 Nov;122(3-4):413. doi: 10.1007/s00439-007-0411-6. Hum Genet. 2007. PMID: 17717708 No abstract available.

7

Gene symbol: CLCN1. Disease: Myotonia congenita.

Morales F, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T. Morales F, et al. Among authors: cuenca p. Hum Genet. 2008 Feb;123(1):104-5. Hum Genet. 2008. PMID: 18386321 No abstract available.

8

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

Morales F, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T. Morales F, et al. Among authors: cuenca p. Rev Biol Trop. 2008 Mar;56(1):1-11. doi: 10.15517/rbt.v56i1.5505. Rev Biol Trop. 2008. PMID: 18624224

9

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

Vindas-Smith R, Fiore M, Vásquez M, Cuenca P, Del Valle G, Lagostena L, Gaitán-Peñas H, Estevez R, Pusch M, Morales F. Vindas-Smith R, et al. Among authors: cuenca p. Hum Mutat. 2016 Jan;37(1):74-83. doi: 10.1002/humu.22916. Epub 2015 Oct 28. Hum Mutat. 2016. PMID: 26510092

10

[Unstable mutations, new challenges for genetic counseling of inherited disorders].

Cuenca P, Morales F. Cuenca P, et al. Rev Biol Trop. 2004 Sep;52(3):491-9. Rev Biol Trop. 2004. PMID: 17361542 Review. Spanish.

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