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Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.
Eur J Hum Genet. 2024 Mar 4. doi: 10.1038/s41431-024-01546-6. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38433266
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.
Hum Mol Genet. 2023 Mar 6;32(6):897-906. doi: 10.1093/hmg/ddac224.
Hum Mol Genet. 2023.
PMID: 36130218
Free PMC article.
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Deep learning-based approach to the characterization and quantification of histopathology in mouse models of colitis.
Kobayashi S, Shieh J, Ruiz de Sabando A, Kim J, Liu Y, Zee SY, Prasanna P, Bialkowska AB, Saltz JH, Yang VW.
Kobayashi S, et al. Among authors: ruiz de sabando a.
PLoS One. 2022 Aug 29;17(8):e0268954. doi: 10.1371/journal.pone.0268954. eCollection 2022.
PLoS One. 2022.
PMID: 36037173
Free PMC article.
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KLF5 protects the intestinal epithelium against Th17 immune response in a murine colitis model.
Shieh J, Chu TH, Liu Y, Kim J, Ruiz de Sabando A, Kobayashi S, Zee SY, Sheridan BS, Bialkowska AB, Yang VW.
Shieh J, et al. Among authors: ruiz de sabando a.
JCI Insight. 2022 Apr 8;7(7):e153488. doi: 10.1172/jci.insight.153488.
JCI Insight. 2022.
PMID: 35393949
Free PMC article.
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Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain.
Vicente E, Ruiz de Sabando A, García F, Gastón I, Ardanaz E, Ramos-Arroyo MA.
Vicente E, et al. Among authors: ruiz de sabando a.
Orphanet J Rare Dis. 2021 Feb 10;16(1):77. doi: 10.1186/s13023-021-01699-3.
Orphanet J Rare Dis. 2021.
PMID: 33568143
Free PMC article.
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Ganglion Cell Layer Thinning in Alzheimer's Disease.
López-de-Eguileta A, Cerveró A, Ruiz de Sabando A, Sánchez-Juan P, Casado A.
López-de-Eguileta A, et al. Among authors: ruiz de sabando a.
Medicina (Kaunas). 2020 Oct 21;56(10):553. doi: 10.3390/medicina56100553.
Medicina (Kaunas). 2020.
PMID: 33096909
Free PMC article.
Review.
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Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).
Ruiz de Sabando A, Urrutia Lafuente E, García-Amigot F, Alonso Sánchez A, Morales Garofalo L, Moreno S, Ardanaz E, Ramos-Arroyo MA.
Ruiz de Sabando A, et al.
BMC Cancer. 2019 Nov 27;19(1):1145. doi: 10.1186/s12885-019-6277-x.
BMC Cancer. 2019.
PMID: 31771539
Free PMC article.
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ML264, A Novel Small-Molecule Compound That Potently Inhibits Growth of Colorectal Cancer.
Ruiz de Sabando A, Wang C, He Y, García-Barros M, Kim J, Shroyer KR, Bannister TD, Yang VW, Bialkowska AB.
Ruiz de Sabando A, et al.
Mol Cancer Ther. 2016 Jan;15(1):72-83. doi: 10.1158/1535-7163.MCT-15-0600. Epub 2015 Nov 30.
Mol Cancer Ther. 2016.
PMID: 26621868
Free PMC article.
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