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Transfers of Care between Healthcare Professionals in Obstetric Units of Different Sizes across Spain and in a Hospital in Ireland: The MidconBirth Study.
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.
[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].
Ejarque I, Millán-Salvador JM, Oltra S, Pesudo-Martínez JV, Beneyto M, Pérez-Aytés A.
Ejarque I, et al.
Rev Neurol. 2015 May 1;60(9):408-12.
Rev Neurol. 2015.
PMID: 25912702
Review.
Spanish.
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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.
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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.
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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.
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
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