Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

33 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
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
Lipodystrophic laminopathies: Diagnostic clues.
Guillín-Amarelle C, Fernández-Pombo A, Sánchez-Iglesias S, Araújo-Vilar D. Guillín-Amarelle C, et al. Nucleus. 2018 Jan 1;9(1):249-260. doi: 10.1080/19491034.2018.1454167. Nucleus. 2018. PMID: 29557732 Free PMC article. Review.
Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain Autopsies.
Sánchez-Iglesias S, Fernández-Liste A, Guillín-Amarelle C, Rábano A, Rodriguez-Cañete L, González-Méndez B, Fernández-Pombo A, Senra A, Araújo-Vilar D. Sánchez-Iglesias S, et al. Neuroscience. 2019 Jan 1;396:119-137. doi: 10.1016/j.neuroscience.2018.11.004. Epub 2018 Nov 15. Neuroscience. 2019. PMID: 30447390 Free article.
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.
Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation.
Fernández-Pombo A, Cameselle-Teijeiro JM, Puñal-Rodríguez JA, Loidi L, Peinó-García R, Cabanas-Rodríguez P, Garrido-Pumar M, Baleato-González S, Flores-Ríos E, Araújo-Vilar D. Fernández-Pombo A, et al. Case Rep Endocrinol. 2019 Oct 27;2019:2502174. doi: 10.1155/2019/2502174. eCollection 2019. Case Rep Endocrinol. 2019. PMID: 31781416 Free PMC article.
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.
Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.
Sánchez-Iglesias S, Fernández-Pombo A, Cobelo-Gómez S, Hermida-Ameijeiras Á, Alarcón-Martínez H, Domingo-Jiménez R, Ruíz Riquelme AI, Requena JR, Araújo-Vilar D. Sánchez-Iglesias S, et al. J Clin Med. 2021 Apr 1;10(7):1435. doi: 10.3390/jcm10071435. J Clin Med. 2021. PMID: 33916074 Free PMC article. Review.
33 results