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Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
Sarrión P, Sangorrin A, Urreizti R, Delgado A, Artuch R, Martorell L, Armstrong J, Anton J, Torner F, Vilaseca MA, Nevado J, Lapunzina P, Asteggiano CG, Balcells S, Grinberg D. Sarrión P, et al. Among authors: martorell l. Sci Rep. 2013;3:1346. doi: 10.1038/srep01346. Sci Rep. 2013. PMID: 23439489 Free PMC article.
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE, García-Miñaur S, Lapunzina P. Romanelli V, et al. Among authors: martorell l. Eur J Hum Genet. 2011 Apr;19(4):416-21. doi: 10.1038/ejhg.2010.236. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248736 Free PMC article.
PLP1 gene analysis in 88 patients with leukodystrophy.
Martínez-Montero P, Muñoz-Calero M, Vallespín E, Campistol J, Martorell L, Ruiz-Falcó MJ, Santana A, Pons R, Dinopoulos A, Sierra C, Nevado J, Molano J. Martínez-Montero P, et al. Among authors: martorell l. Clin Genet. 2013 Dec;84(6):566-71. doi: 10.1111/cge.12103. Epub 2013 Mar 11. Clin Genet. 2013. PMID: 23347225
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.
Roldán M, Nolasco GA, Armengol L, Frías M, Morell M, García-Aragonés M, Epifani F, Muchart J, Ramírez-Almaraz ML, Martorell L, Hernando-Davalillo C, Urreizti R, Serrano M. Roldán M, et al. Among authors: martorell l. Int J Mol Sci. 2023 Sep 5;24(18):13699. doi: 10.3390/ijms241813699. Int J Mol Sci. 2023. PMID: 37762002 Free PMC article.
210 results