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Page 1
Sotos Syndrome and Nephrocalcinosis, a Rare But Possible Association due to Impact on Contiguous Genes.
González-Rodríguez JD, Inglés-Torres EQ, Cabrera-Sevilla JE, Ibáñez-Micó S, Bermejo-Costa F, Vera-Carbonell A, Bafalliu-Vidal JA, Cortés-Mora P, Lorente-Nicolás A, Donate-Legaz JM. González-Rodríguez JD, et al. J Clin Res Pediatr Endocrinol. 2023 Aug 10. doi: 10.4274/jcrpe.galenos.2023.2023-3-11. Online ahead of print. J Clin Res Pediatr Endocrinol. 2023. PMID: 37559368 Free article.
Can acetazolamide be used to treat diseases involving increased bone mineral density?
González-Rodríguez JD, Luis-Yanes MI, Inglés-Torres E, Arango-Sancho P, Cabrera-Sevilla JE, Duque-Fernández MR, Gil-Sánchez S, García-Nieto VM. González-Rodríguez JD, et al. Intractable Rare Dis Res. 2016 Nov;5(4):284-289. doi: 10.5582/irdr.2016.01067. Intractable Rare Dis Res. 2016. PMID: 27904825 Free PMC article.
Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.
Rodríguez-Rubio E, Gil-Peña H, Chocron S, Madariaga L, de la Cerda-Ojeda F, Fernández-Fernández M, de Lucas-Collantes C, Gil M, Luis-Yanes MI, Vergara I, González-Rodríguez JD, Ferrando S, Antón-Gamero M, Carrasco Hidalgo-Barquero M, Fernández-Escribano A, Fernández-Maseda MÁ, Espinosa L, Oliet A, Vicente A, Ariceta G, Santos F; RenalTubeGroup. Rodríguez-Rubio E, et al. Orphanet J Rare Dis. 2021 Feb 27;16(1):104. doi: 10.1186/s13023-021-01729-0. Orphanet J Rare Dis. 2021. PMID: 33639975 Free PMC article.
Multidisciplinary management improves the genetic diagnosis of hereditary kidney diseases in the next generation sequencing (NGS) era.
Galán Carrillo I, Galbis Martínez L, Martínez V, Roca Meroño S, Ramos F, González Rodríguez JD, Piñero Fernández J, Guillén Navarro E. Galán Carrillo I, et al. Among authors: gonzalez rodriguez jd. Nefrologia (Engl Ed). 2024 Jan-Feb;44(1):69-76. doi: 10.1016/j.nefroe.2024.02.002. Epub 2024 Feb 27. Nefrologia (Engl Ed). 2024. PMID: 38418364 Free article.
Autosomal dominant polycystic kidney disease in young adults.
Martínez V, Furlano M, Sans L, Pulido L, García R, Pérez-Gómez MV, Sánchez-Rodríguez J, Blasco M, Castro-Alonso C, Fernández-Fresnedo G, Robles NR, Valenzuela MP, Naranjo J, Martín N, Pilco M, Agraz-Pamplona I, González-Rodríguez JD, Panizo N, Fraga G, Fernández L, López MT, Dall'Anese C, Ortiz A, Torra R; participants in the REPQRAD. Martínez V, et al. Among authors: gonzalez rodriguez jd. Clin Kidney J. 2022 Nov 29;16(6):985-995. doi: 10.1093/ckj/sfac251. eCollection 2023 Jun. Clin Kidney J. 2022. PMID: 37260991 Free PMC article.
Hypophosphataemic Rickets: Similar Phenotype of Different Diseases.
de la Cerda-Ojeda F, González-Rodríguez JD, Madariaga L, Martínez-Díaz-Guerra G, Matoses-Ruipérez ML. de la Cerda-Ojeda F, et al. Adv Ther. 2020 May;37(Suppl 2):80-88. doi: 10.1007/s12325-019-01182-3. Epub 2020 Mar 31. Adv Ther. 2020. PMID: 32236875 Review.
Renal water handling in urinary tract infections.
González-Rodríguez JD, García-Nieto VM. González-Rodríguez JD, et al. Pediatr Nephrol. 2024 Apr;39(4):1315-1316. doi: 10.1007/s00467-023-06181-9. Epub 2023 Oct 13. Pediatr Nephrol. 2024. PMID: 37831121 No abstract available.
25 results