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Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM. Lemmers RJ, et al. Among authors: ramos arroyo ma. Hum Mol Genet. 2015 Feb 1;24(3):659-69. doi: 10.1093/hmg/ddu486. Epub 2014 Sep 25. Hum Mol Genet. 2015. PMID: 25256356 Free PMC article.
Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.
Ruiz de Sabando A, Urrutia Lafuente E, Galbete A, Ciosi M, García Amigot F, García Solaesa V; Spanish HD Collaborative group; Monckton DG, Ramos-Arroyo MA. Ruiz de Sabando A, et al. Among authors: ramos arroyo ma. Hum Mol Genet. 2023 Mar 6;32(6):897-906. doi: 10.1093/hmg/ddac224. Hum Mol Genet. 2023. PMID: 36130218 Free PMC article.
Genetic services in Spain.
Ramos-Arroyo MA, Benitez J, Estivill J. Ramos-Arroyo MA, et al. Eur J Hum Genet. 1997;5 Suppl 2:163-8. Eur J Hum Genet. 1997. PMID: 9450217 No abstract available.
New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.
Pérez-Grijalba V, García-Oguiza A, López M, Armstrong J, García-Miñaur S, Mesa-Latorre JM, O'Callaghan M, Pineda Marfa M, Ramos-Arroyo MA, Santos-Simarro F, Seidel V, Domínguez-Garrido E. Pérez-Grijalba V, et al. Among authors: ramos arroyo ma. Mol Genet Genomic Med. 2019 Nov;7(11):e972. doi: 10.1002/mgg3.972. Epub 2019 Sep 30. Mol Genet Genomic Med. 2019. PMID: 31566936 Free PMC article.
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
Cohen AS, Yap DB, Lewis ME, Chijiwa C, Ramos-Arroyo MA, Tkachenko N, Milano V, Fradin M, McKinnon ML, Townsend KN, Xu J, Van Allen MI, Ross CJ, Dobyns WB, Weaver DD, Gibson WT. Cohen AS, et al. Among authors: ramos arroyo ma. Hum Mutat. 2016 Mar;37(3):301-7. doi: 10.1002/humu.22946. Epub 2016 Jan 12. Hum Mutat. 2016. PMID: 26694085 Free PMC article.
69 results