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Page 1
Bone mineral density in familial partial lipodystrophy.
Fernández-Pombo A, Ossandon-Otero JA, Guillín-Amarelle C, Sánchez-Iglesias S, Castro AI, González-Méndez B, Rodríguez-García S, Rodriguez-Cañete L, Casanueva FF, Araújo-Vilar D. Fernández-Pombo A, et al. Clin Endocrinol (Oxf). 2018 Jan;88(1):44-50. doi: 10.1111/cen.13504. Epub 2017 Nov 20. Clin Endocrinol (Oxf). 2018. PMID: 29078011
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
Sánchez-Iglesias S, Crocker M, O'Callaghan M, Darling A, García-Cazorla A, Domingo-Jiménez R, Castro A, Fernández-Pombo A, Ruibal Á, Aguiar P, Garrido-Pumar M, Rodríguez-Núñez A, Álvarez-Escudero J, Brown RJ, Araújo-Vilar D. Sánchez-Iglesias S, et al. Neurogenetics. 2019 May;20(2):73-82. doi: 10.1007/s10048-019-00574-5. Epub 2019 Mar 23. Neurogenetics. 2019. PMID: 30903322 Free PMC article.
Lesion location and other predictive factors of dysphagia and its complications in acute stroke.
Fernández-Pombo A, Seijo-Raposo IM, López-Osorio N, Cantón-Blanco A, González-Rodríguez M, Arias-Rivas S, Rodríguez-Yáñez M, Santamaría-Nieto A, Díaz-Ortega C, Gómez-Vázquez E, Martínez-Olmos MÁ. Fernández-Pombo A, et al. Clin Nutr ESPEN. 2019 Oct;33:178-182. doi: 10.1016/j.clnesp.2019.05.019. Epub 2019 Jun 6. Clin Nutr ESPEN. 2019. PMID: 31451257
LipoDDx: a mobile application for identification of rare lipodystrophy syndromes.
Araújo-Vilar D, Fernández-Pombo A, Rodríguez-Carnero G, Martínez-Olmos MÁ, Cantón A, Villar-Taibo R, Hermida-Ameijeiras Á, Santamaría-Nieto A, Díaz-Ortega C, Martínez-Rey C, Antela A, Losada E, Muy-Pérez AE, González-Méndez B, Sánchez-Iglesias S. Araújo-Vilar D, et al. Orphanet J Rare Dis. 2020 Apr 2;15(1):81. doi: 10.1186/s13023-020-01364-1. Orphanet J Rare Dis. 2020. PMID: 32241282 Free PMC article.
Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis.
Vázquez-Mosquera ME, González-Vioque E, Barbosa-Gouveia S, Bellido-Guerrero D, Tejera-Pérez C, Martinez-Olmos MA, Fernández-Pombo A, Castaño-González LA, Chans-Gerpe R, Couce ML. Vázquez-Mosquera ME, et al. Orphanet J Rare Dis. 2022 Mar 4;17(1):105. doi: 10.1186/s13023-022-02263-3. Orphanet J Rare Dis. 2022. PMID: 35246208 Free PMC article.
Lipodystrophy-associated progeroid syndromes.
Araújo-Vilar D, Fernández-Pombo A, Cobelo-Gómez S, Castro AI, Sánchez-Iglesias S. Araújo-Vilar D, et al. Hormones (Athens). 2022 Dec;21(4):555-571. doi: 10.1007/s42000-022-00386-7. Epub 2022 Jul 15. Hormones (Athens). 2022. PMID: 35835948 Review.
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