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Effect of AGG Interruptions on FMR1 Maternal Transmissions.
Villate O, Ibarluzea N, Maortua H, de la Hoz AB, Rodriguez-Revenga L, Izquierdo-Álvarez S, Tejada MI. Villate O, et al. Among authors: de la hoz ab. Front Mol Biosci. 2020 Jul 14;7:135. doi: 10.3389/fmolb.2020.00135. eCollection 2020. Front Mol Biosci. 2020. PMID: 32766278 Free PMC article.
Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis.
Aguilera-Albesa S, de la Hoz AB, Ibarluzea N, Ordóñez-Castillo AR, Busto-Crespo O, Villate O, Ibiricu-Yanguas MA, Yoldi-Petri ME, García de Gurtubay I, Perez de Nanclares G, Pereda A, Tejada MI. Aguilera-Albesa S, et al. Among authors: de la hoz ab. Front Neurol. 2020 Feb 14;11:41. doi: 10.3389/fneur.2020.00041. eCollection 2020. Front Neurol. 2020. PMID: 32117010 Free PMC article.
Genetic profile of a large Spanish cohort with hypercalcemia.
García-Castaño A, Madariaga L, Gómez-Conde S, González P, Grau G, Rica I, de Nanclares GP, De la Hoz AB, Aguayo A, Martínez R, Urrutia I, Gaztambide S; Calcium Phosphorus Metabolism Molecular Biology Group; Castaño L. García-Castaño A, et al. Among authors: de la hoz ab. Front Endocrinol (Lausanne). 2024 Mar 22;15:1297614. doi: 10.3389/fendo.2024.1297614. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38586466 Free PMC article.
Severe neonatal jaundice due to a de novo glucose-6-phosphate dehydrogenase deficient mutation.
Del Orbe Barreto R, Arrizabalaga B, de la Hoz AB, Aragües P, Garcia-Ruiz JC, Arrieta A, Adán R, Manco L, Macedo-Ribeiro S, Bento C, Ribeiro ML. Del Orbe Barreto R, et al. Among authors: de la hoz ab. Int J Lab Hematol. 2016 Apr;38(2):e27-9. doi: 10.1111/ijlh.12455. Epub 2015 Dec 23. Int J Lab Hematol. 2016. PMID: 26693676 No abstract available.
Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.
García-Castaño A, Madariaga L, Antón-Gamero M, Mejia N, Ponce J, Gómez-Conde S, Pérez de Nanclares G, De la Hoz AB, Martínez R, Saso L, Martínez de LaPiscina I, Urrutia I, Velasco O, Aguayo A, Castaño L, Gaztambide S. García-Castaño A, et al. Among authors: de la hoz ab. PLoS One. 2020 Sep 30;15(9):e0239965. doi: 10.1371/journal.pone.0239965. eCollection 2020. PLoS One. 2020. PMID: 32997713 Free PMC article.
Five patients with disorders of calcium metabolism presented with GCM2 gene variants.
García-Castaño A, Madariaga L, Gómez-Conde S, Cordo CLR, López-Iglesias M, Garcia-Fernández Y, Martín A, González P, Goicolea I, de Nanclares GP, De la Hoz AB, Aguayo A, de LaPiscina IM, Martínez R, Saso L, Urrutia I, Velasco O, Castaño L, Gaztambide S. García-Castaño A, et al. Among authors: de la hoz ab. Sci Rep. 2021 Feb 3;11(1):2968. doi: 10.1038/s41598-021-82661-y. Sci Rep. 2021. PMID: 33536578 Free PMC article.
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