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Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
Tenorio-Castano J, Gómez ÁS, Coronado M, Rodríguez-Martín P, Parra A, Pascual P, Cazalla M, Gallego N, Arias P, Morales AV, Nevado J, Lapunzina P. Tenorio-Castano J, et al. Among authors: gallego n. Clin Genet. 2023 Dec;104(6):637-647. doi: 10.1111/cge.14423. Epub 2023 Sep 13. Clin Genet. 2023. PMID: 37702321 Review.
HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19.
Castro-Santos P, Rojas-Martinez A, Riancho JA, Lapunzina P, Flores C, Carracedo Á, Díaz-Peña R; Scourge Cohort Group. Castro-Santos P, et al. HLA. 2023 Dec;102(6):731-739. doi: 10.1111/tan.15160. Epub 2023 Aug 1. HLA. 2023. PMID: 37528566
Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.
Pairo-Castineira E, Rawlik K, Bretherick AD, Qi T, Wu Y, Nassiri I, McConkey GA, Zechner M, Klaric L, Griffiths F, Oosthuyzen W, Kousathanas A, Richmond A, Millar J, Russell CD, Malinauskas T, Thwaites R, Morrice K, Keating S, Maslove D, Nichol A, Semple MG, Knight J, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Begg C, Walsh T, Tenesa A, Flores C, Riancho JA, Rojas-Martinez A, Lapunzina P; GenOMICC Investigators; SCOURGE Consortium; ISARICC Investigators; 23andMe COVID-19 Team; Yang J, Ponting CP, Wilson JF, Vitart V, Abedalthagafi M, Luchessi AD, Parra EJ, Cruz R, Carracedo A, Fawkes A, Murphy L, Rowan K, Pereira AC, Law A, Fairfax B, Hendry SC, Baillie JK. Pairo-Castineira E, et al. Nature. 2023 Jul;619(7971):E61. doi: 10.1038/s41586-023-06383-z. Nature. 2023. PMID: 37433877 Free PMC article. No abstract available.
Improvement in Quality of Life With the Use of a Technological System Among Patients With Chronic Disease Followed Up in Primary Care (TeNDER Project): Protocol for a Randomized Controlled Trial.
Lozano Hernández CM, Medina-García R, de Hoyos-Alonso MC, Garrido-Barral A, Minué Lorenzo C, Sanz-Cuesta T, Serrano J, Del Rio Ponce A, Gómez-Gascón T, Del Cura-González I; TeNDER Group Primary Care. Lozano Hernández CM, et al. JMIR Res Protoc. 2023 Jul 3;12:e47331. doi: 10.2196/47331. JMIR Res Protoc. 2023. PMID: 37399054 Free PMC article.
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.
Pairo-Castineira E, Rawlik K, Bretherick AD, Qi T, Wu Y, Nassiri I, McConkey GA, Zechner M, Klaric L, Griffiths F, Oosthuyzen W, Kousathanas A, Richmond A, Millar J, Russell CD, Malinauskas T, Thwaites R, Morrice K, Keating S, Maslove D, Nichol A, Semple MG, Knight J, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Begg C, Walsh T, Tenesa A, Flores C, Riancho JA, Rojas-Martinez A, Lapunzina P; GenOMICC Investigators; SCOURGE Consortium; ISARICC Investigators; 23andMe COVID-19 Team; Yang J, Ponting CP, Wilson JF, Vitart V, Abedalthagafi M, Luchessi AD, Parra EJ, Cruz R, Carracedo A, Fawkes A, Murphy L, Rowan K, Pereira AC, Law A, Fairfax B, Hendry SC, Baillie JK. Pairo-Castineira E, et al. Nature. 2023 May;617(7962):764-768. doi: 10.1038/s41586-023-06034-3. Epub 2023 May 17. Nature. 2023. PMID: 37198478 Free PMC article.
Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension.
Vera-Zambrano A, Lago-Docampo M, Gallego N, Franco-Gonzalez JF, Morales-Cano D, Cruz-Utrilla A, Villegas-Esguevillas M, Fernández-Malavé E, Escribano-Subías P, Tenorio-Castaño JA, Perez-Vizcaino F, Valverde D, González T; Spanish group of Ion Channels in Pulmonary Hypertension (SICPH) investigators; Cogolludo A. Vera-Zambrano A, et al. Among authors: gallego n. Am J Respir Cell Mol Biol. 2023 Aug;69(2):147-158. doi: 10.1165/rcmb.2022-0245OC. Am J Respir Cell Mol Biol. 2023. PMID: 36917789
International multicenter survey on screening and confirmatory testing in primary aldosteronism.
Naruse M, Murakami M, Katabami T, Kocjan T, Parasiliti-Caprino M, Quinkler M, St-Jean M, O'Toole S, Ceccato F, Kraljevic I, Kastelan D, Tsuiki M, Deinum J, Torre EM, Puar T, Markou A, Piaditis G, Laycock K, Wada N, Grytaas MA, Kobayashi H, Tanabe A, Tong CV, Gallego NV, Gruber S, Beuschlein F, Kürzinger L, Sukor N, Azizan EABA, Ragnarsson O, Nijhoff MF, Maiolino G, Dalmazi GD, Kalugina V, Lacroix A, Furnica RM, Suzuki T. Naruse M, et al. Among authors: gallego nv. Eur J Endocrinol. 2023 Jan 10;188(1):lvac002. doi: 10.1093/ejendo/lvac002. Eur J Endocrinol. 2023. PMID: 36726325
88 results