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118 results

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Page 1
SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.
Fernández-Cancio M, Audí L, Andaluz P, Torán N, Piró C, Albisu M, Gussinyé M, Yeste D, Clemente M, Martínez-Mora J, Blanco A, Granada ML, Marco M, Ferragut J, López-Siguero JP, Beneyto M, Carles C, Carrascosa A. Fernández-Cancio M, et al. Among authors: beneyto m. Int J Androl. 2011 Dec;34(6 Pt 2):e526-35. doi: 10.1111/j.1365-2605.2010.01136.x. Epub 2011 Jun 2. Int J Androl. 2011. PMID: 21631525
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, Vilaró E, Vicens-Calvet E, Gussinyé M, Albisu MA, Yeste D, Clemente M, Hernández de la Calle I, Del Campo M, Vendrell T, Blanco A, Martínez-Mora J, Granada ML, Salinas I, Forn J, Calaf J, Angerri O, Martínez-Sopena MJ, Del Valle J, García E, Gracia-Bouthelier R, Lapunzina P, Mayayo E, Labarta JI, Lledó G, Sánchez Del Pozo J, Arroyo J, Pérez-Aytes A, Beneyto M, Segura A, Borrás V, Gabau E, Caimarí M, Rodríguez A, Martínez-Aedo MJ, Carrera M, Castaño L, Andrade M, Bermúdez de la Vega JA; Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA). Audi L, et al. Among authors: beneyto m. J Clin Endocrinol Metab. 2010 Apr;95(4):1876-88. doi: 10.1210/jc.2009-2146. Epub 2010 Feb 11. J Clin Endocrinol Metab. 2010. PMID: 20150575 Free article.
Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.
Sánchez-Martínez R, Iriarte A, Mora-Luján JM, Patier JL, López-Wolf D, Ojeda A, Torralba MA, Juyol MC, Gil R, Añón S, Salazar-Mendiguchía J, Riera-Mestre A; RiHHTa Investigators of the Rare Diseases Working Group from the Spanish Society of Internal Medicine. Sánchez-Martínez R, et al. Orphanet J Rare Dis. 2020 Jun 5;15(1):138. doi: 10.1186/s13023-020-01422-8. Orphanet J Rare Dis. 2020. PMID: 32503579 Free PMC article.
Transfers of Care between Healthcare Professionals in Obstetric Units of Different Sizes across Spain and in a Hospital in Ireland: The MidconBirth Study.
Martín-Arribas A, Vila-Candel R, O'Connell R, Dillon M, Vila-Bellido I, Beneyto MÁ, De Molina-Fernández I, Rodríguez-Conesa N, González-Blázquez C, Escuriet R. Martín-Arribas A, et al. Among authors: beneyto ma. Int J Environ Res Public Health. 2020 Nov 13;17(22):8394. doi: 10.3390/ijerph17228394. Int J Environ Res Public Health. 2020. PMID: 33202745 Free PMC article.
Prevalence, clinical significance and prognosis value of liver stiffness measurement anomalies in transthyretin cardiac amyloidosis.
Lointier E, Cariou E, Beneyto M, Fournier P, Lavie-Badie Y, Eyharts D, Bureau C, Lairez O; Toulouse Amyloidosis Research Network collaborators. Lointier E, et al. Among authors: beneyto m. Int J Cardiol. 2024 Dec 1;416:132485. doi: 10.1016/j.ijcard.2024.132485. Epub 2024 Aug 24. Int J Cardiol. 2024. PMID: 39187068 Free article.
Extracardiac vagal stimulation using a widely available neuromuscular monitor.
Beneyto M, Rollin A, Timnou Bekouti J, Herviou N, Delasnerie H, Mondoly P, Cherbi M, Foltran D, Mandel F, Marimpouy N, Maury P. Beneyto M, et al. Heart Rhythm. 2025 Jan;22(1):277-279. doi: 10.1016/j.hrthm.2024.07.109. Epub 2024 Jul 31. Heart Rhythm. 2025. PMID: 39089564 Free article. No abstract available.
118 results