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Page 1
Novel genes and sex differences in COVID-19 severity.
Cruz R, Diz-de Almeida S, López de Heredia M, Quintela I, Ceballos FC, Pita G, Lorenzo-Salazar JM, González-Montelongo R, Gago-Domínguez M, Sevilla Porras M, Tenorio Castaño JA, Nevado J, Aguado JM, Aguilar C, Aguilera-Albesa S, Almadana V, Almoguera B, Alvarez N, Andreu-Bernabeu Á, Arana-Arri E, Arango C, Arranz MJ, Artiga MJ, Baptista-Rosas RC, Barreda-Sánchez M, Belhassen-Garcia M, Bezerra JF, Bezerra MAC, Boix-Palop L, Brion M, Brugada R, Bustos M, Calderón EJ, Carbonell C, Castano L, Castelao JE, Conde-Vicente R, Cordero-Lorenzana ML, Cortes-Sanchez JL, Corton M, Darnaude MT, De Martino-Rodríguez A, Del Campo-Pérez V, Diaz de Bustamante A, Domínguez-Garrido E, Luchessi AD, Eiros R, Estigarribia Sanabria GM, Carmen Fariñas M, Fernández-Robelo U, Fernández-Rodríguez A, Fernández-Villa T, Gil-Fournier B, Gómez-Arrue J, González Álvarez B, Gonzalez Bernaldo de Quirós F, González-Peñas J, Gutiérrez-Bautista JF, Herrero MJ, Herrero-Gonzalez A, Jimenez-Sousa MA, Lattig MC, Liger Borja A, Lopez-Rodriguez R, Mancebo E, Martín-López C, Martín V, Martinez-Nieto O, Martinez-Lopez I, Martinez-Resendez MF, Martinez-Perez A, Mazzeu JF, Merayo Macías E, Minguez P, Moreno Cuerda V, Silbiger V… See abstract for full author list ➔ Cruz R, et al. Among authors: lapunzina p. Hum Mol Genet. 2022 Nov 10;31(22):3789-3806. doi: 10.1093/hmg/ddac132. Hum Mol Genet. 2022. PMID: 35708486 Free PMC article.
Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism.
Romanelli V, Nevado J, Fraga M, Trujillo AM, Mori MÁ, Fernández L, Pérez de Nanclares G, Martínez-Glez V, Pita G, Meneses H, Gracia R, García-Miñaur S, García de Miguel P, Lecumberri B, Rodríguez JI, González Neira A, Monk D, Lapunzina P. Romanelli V, et al. Among authors: lapunzina p. J Med Genet. 2011 Mar;48(3):212-6. doi: 10.1136/jmg.2010.081919. Epub 2010 Nov 19. J Med Genet. 2011. PMID: 21097775
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: lapunzina p. 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.
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.
Palomares M, Delicado A, Mansilla E, de Torres ML, Vallespín E, Fernandez L, Martinez-Glez V, García-Miñaur S, Nevado J, Simarro FS, Ruiz-Perez VL, Lynch SA, Sharkey FH, Thuresson AC, Annerén G, Belligni EF, Martínez-Fernández ML, Bermejo E, Nowakowska B, Kutkowska-Kazmierczak A, Bocian E, Obersztyn E, Martínez-Frías ML, Hennekam RC, Lapunzina P. Palomares M, et al. Among authors: lapunzina p. Am J Hum Genet. 2011 Aug 12;89(2):295-301. doi: 10.1016/j.ajhg.2011.06.012. Epub 2011 Jul 28. Am J Hum Genet. 2011. PMID: 21802062 Free PMC article.
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.
Armengol L, Nevado J, Serra-Juhé C, Plaja A, Mediano C, García-Santiago FA, García-Aragonés M, Villa O, Mansilla E, Preciado C, Fernández L, Ángeles Mori M, García-Pérez L, Lapunzina PD, Pérez-Jurado LA. Armengol L, et al. Hum Genet. 2012 Mar;131(3):513-23. doi: 10.1007/s00439-011-1095-5. Hum Genet. 2012. PMID: 21975797 Free PMC article. Clinical Trial.
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.
Puig-Hervás MT, Temtamy S, Aglan M, Valencia M, Martínez-Glez V, Ballesta-Martínez MJ, López-González V, Ashour AM, Amr K, Pulido V, Guillén-Navarro E, Lapunzina P, Caparrós-Martín JA, Ruiz-Perez VL. Puig-Hervás MT, et al. Among authors: lapunzina p. Hum Mutat. 2012 Oct;33(10):1444-9. doi: 10.1002/humu.22133. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22689593
Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients.
Cardoso LC, Tenorio Castaño JA, Pereira HS, Lima MA, Dos Santos AC, de Faria PS, Ferman S, Seuánez HN, Nevado JB, de Almeida JC, Lapunzina P, Vargas FR. Cardoso LC, et al. Among authors: lapunzina p. Genet Mol Biol. 2012 Dec;35(4):714-24. doi: 10.1590/S1415-47572012005000073. Epub 2012 Nov 9. Genet Mol Biol. 2012. PMID: 23271929 Free PMC article.
Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.
Guillén-Navarro E, Ballesta-Martínez MJ, Valencia M, Bueno AM, Martinez-Glez V, López-González V, Burnyte B, Utkus A, Lapunzina P, Ruiz-Perez VL. Guillén-Navarro E, et al. Among authors: lapunzina p. Am J Med Genet A. 2014 May;164A(5):1136-42. doi: 10.1002/ajmg.a.36409. Epub 2014 Jan 29. Am J Med Genet A. 2014. PMID: 24478195
New microdeletion and microduplication syndromes: A comprehensive review.
Nevado J, Mergener R, Palomares-Bralo M, Souza KR, Vallespín E, Mena R, Martínez-Glez V, Mori MÁ, Santos F, García-Miñaur S, García-Santiago F, Mansilla E, Fernández L, de Torres ML, Riegel M, Lapunzina P. Nevado J, et al. Among authors: lapunzina p. Genet Mol Biol. 2014 Mar;37(1 Suppl):210-9. doi: 10.1590/s1415-47572014000200007. Genet Mol Biol. 2014. PMID: 24764755 Free PMC article. Review.
283 results