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Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers.
Berrocoso S, Amayra I, Lázaro E, Martínez O, López-Paz JF, García M, Pérez M, Al-Rashaida M, Rodríguez AA, Luna PM, Pérez-Núñez P, Blanco R, Nevado J. Berrocoso S, et al. Among authors: nevado j. Orphanet J Rare Dis. 2020 Oct 19;15(1):293. doi: 10.1186/s13023-020-01476-8. Orphanet J Rare Dis. 2020. PMID: 33076957 Free PMC article.
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
van Dijk FS, Semler O, Etich J, Köhler A, Jimenez-Estrada JA, Bravenboer N, Claeys L, Riesebos E, Gegic S, Piersma SR, Jimenez CR, Waisfisz Q, Flores CL, Nevado J, Harsevoort AJ, Janus GJM, Franken AAM, van der Sar AM, Meijers-Heijboer H, Heath KE, Lapunzina P, Nikkels PGJ, Santen GWE, Nüchel J, Plomann M, Wagener R, Rehberg M, Hoyer-Kuhn H, Eekhoff EMW, Pals G, Mörgelin M, Newstead S, Wilson BT, Ruiz-Perez VL, Maugeri A, Netzer C, Zaucke F, Micha D. van Dijk FS, et al. Among authors: nevado j. Am J Hum Genet. 2020 Oct 9:S0002-9297(20)30329-3. doi: 10.1016/j.ajhg.2020.09.009. Online ahead of print. Am J Hum Genet. 2020. PMID: 33053334
Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.
Espeche LD, Solari AP, Mori MÁ, Arenas RM, Palomares M, Pérez M, Martínez C, Lotersztein V, Segovia M, Armando R, Dain LB, Nevado J, Lapunzina P, Rozental S. Espeche LD, et al. Among authors: nevado j. Mol Biol Rep. 2020 Sep;47(9):6863-6878. doi: 10.1007/s11033-020-05743-6. Epub 2020 Sep 13. Mol Biol Rep. 2020. PMID: 32920771
Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.
Ziats CA, Jain L, McLarney B, Vandenboom E, DuPont BR, Rogers C, Sarasua S, Nevado J, Cordisco EL, Phelan K, Boccuto L. Ziats CA, et al. Among authors: nevado j. Eur J Med Genet. 2020 Nov;63(11):104042. doi: 10.1016/j.ejmg.2020.104042. Epub 2020 Aug 19. Eur J Med Genet. 2020. PMID: 32822873
A six-attribute classification of genetic mosaicism.
Martínez-Glez V, Tenorio J, Nevado J, Gordo G, Rodríguez-Laguna L, Feito M, de Lucas R, Pérez-Jurado LA, Ruiz Pérez VL, Torrelo A, Spinner NB, Happle R, Biesecker LG, Lapunzina P. Martínez-Glez V, et al. Among authors: nevado j. Genet Med. 2020 Jul 14. doi: 10.1038/s41436-020-0877-3. Online ahead of print. Genet Med. 2020. PMID: 32661356 Free article. Review.
Polyphenols Attenuate Highly-Glycosylated Haemoglobin-Induced Damage in Human Peritoneal Mesothelial Cells.
Sánchez-Rodríguez C, Peiró C, Rodríguez-Mañas L, Nevado J. Sánchez-Rodríguez C, et al. Among authors: nevado j. Antioxidants (Basel). 2020 Jul 1;9(7):572. doi: 10.3390/antiox9070572. Antioxidants (Basel). 2020. PMID: 32630324 Free PMC article.
Co-occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2.
Peces R, Mena R, Martín Y, Hernández C, Peces C, Tellería D, Cuesta E, Selgas R, Lapunzina P, Nevado J. Peces R, et al. Among authors: nevado j. Mol Genet Genomic Med. 2020 Aug;8(8):e1321. doi: 10.1002/mgg3.1321. Epub 2020 Jun 13. Mol Genet Genomic Med. 2020. PMID: 32533764 Free PMC article.
Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early-onset and fast cyst progression.
Peces R, Mena R, Peces C, Cuesta E, Selgas R, Barruz P, Lapunzina P, Nevado J. Peces R, et al. Among authors: nevado j. Clin Genet. 2020 Jun;97(6):857-868. doi: 10.1111/cge.13738. Epub 2020 Mar 25. Clin Genet. 2020. PMID: 32166738
Macrophage HIF-1α mediates obesity-related adipose tissue dysfunction via interleukin-1 receptor-associated kinase M.
Poblete JMS, Ballinger MN, Bao S, Alghothani M, Nevado JB Jr, Eubank TD, Christman JW, Magalang UJ. Poblete JMS, et al. Among authors: nevado jb jr. Am J Physiol Endocrinol Metab. 2020 May 1;318(5):E689-E700. doi: 10.1152/ajpendo.00174.2019. Epub 2020 Mar 10. Am J Physiol Endocrinol Metab. 2020. PMID: 32154744
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J. Pascual-Alonso A, et al. Among authors: nevado j. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32043567
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