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943 results

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Page 1
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Mundi Dhahrabi HA, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Martin CA, et al. Among authors: pujol r. Am J Hum Genet. 2024 May 2;111(5):996. doi: 10.1016/j.ajhg.2024.04.008. Am J Hum Genet. 2024. PMID: 38701747 Free PMC article. No abstract available.
Low-level NRLP3 somatic mosaicism in adult-onset cryopyrin-associated periodic syndrome misdiagnosed as chronic urticaria.
Pesqué D, Mensa-Vilaró A, García-Herrera A, Planella-Fontanillas N, March-Rodríguez Á, Pujol RM, Aróstegui JI, Giménez-Arnau AM. Pesqué D, et al. Among authors: pujol rm. J Allergy Clin Immunol Pract. 2024 Apr 30:S2213-2198(24)00435-5. doi: 10.1016/j.jaip.2024.04.049. Online ahead of print. J Allergy Clin Immunol Pract. 2024. PMID: 38697474 No abstract available.
Rationale and study design for an Individualized PeriopeRative Open lung VEntilatory approach in Emergency Abdominal Laparotomy/scopy: study protocol for a prospective international randomized controlled trial.
Laguna G, Suárez-Sipmann F, Tusman G, Ripollés J, Díaz-Cambronero O, Pujol R, Rivas E, Garutti I, Mellado R, Vallverdú J, Jacas A, Fervienza A, Marrero R, Librero J, Villar J, Ferrando C. Laguna G, et al. Among authors: pujol r. Rev Esp Anestesiol Reanim (Engl Ed). 2024 Apr 16:S2341-1929(24)00075-1. doi: 10.1016/j.redare.2024.04.007. Online ahead of print. Rev Esp Anestesiol Reanim (Engl Ed). 2024. PMID: 38636796
Treatment of extramammary Paget's disease with imiquimod in a real-life setting: a multicenter retrospective analysis in Spain.
Escolà H, Llombart B, Escolà-Rodríguez A, Barchino-Ortiz L, Marcoval J, Alcaraz I, Beà-Ardébol S, Toll A, Miñano-Medrano R, Rodríguez-Jiménez P, López-Nuñez M, Ferrándiz-Pulido C, Jaka A, Masferrer E, Aguayo-Ortiz RS, Yébenes M, Arandes-Marcocci J, Ruiz-Salas V, Turrión-Merino L, Just M, Sánchez-Schmidt J, Leal L, Mayo-Martínez F, Haya-Martínez L, Sandoval-Clavijo A, Greta Dradi G, Delgado Y, Verdaguer-Faja J, López-Castillo D, Pujol RM, Deza G. Escolà H, et al. Among authors: pujol rm. Clin Exp Dermatol. 2024 Mar 26:llae092. doi: 10.1093/ced/llae092. Online ahead of print. Clin Exp Dermatol. 2024. PMID: 38531692
Polysensitization in the Spanish Contact Dermatitis Registry (REIDAC): A 2019-2022 prospective study with cluster and network analysis.
Pesqué D, Borrego L, Zaragoza-Ninet V, Sanz-Sánchez T, Miquel-Miquel FJ, González-Pérez R, Silvestre JF, Córdoba-Guijarro S, Carrascosa JM, Gatica-Ortega ME, Ruiz-González I, Mercader-García P, Tous-Romero F, Ortiz de Frutos FJ, Serra-Baldrich E, Pastor-Nieto MA, Rodríguez-Serna M, Sánchez-Pérez J, Sánchez-Gilo A, Melé-Ninot G, Sánchez-Pedreño Guillén P, Pujol RM, Giménez-Arnau AM. Pesqué D, et al. Among authors: pujol rm. J Eur Acad Dermatol Venereol. 2024 Feb 27. doi: 10.1111/jdv.19934. Online ahead of print. J Eur Acad Dermatol Venereol. 2024. PMID: 38411353
Hepatic inflammatory pseudotumours mimicking metastatic disease in a non-HIV patient with secondary syphilis.
Planella-Fontanillas N, Rial-Villavecchia A, Villar-García J, Parra-Navarro L, Santiago-Díaz P, Pujol RM, Rodríguez-Morera J. Planella-Fontanillas N, et al. Among authors: pujol rm. J Eur Acad Dermatol Venereol. 2024 Feb 10. doi: 10.1111/jdv.19847. Online ahead of print. J Eur Acad Dermatol Venereol. 2024. PMID: 38339861 No abstract available.
943 results