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Silvia Cobelo-Gomez

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Articles 12
Citations 38
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Recent Articles
1.
Diaz-Lopez E, Sanchez-Iglesias S, Castro A, Cobelo-Gomez S, Prado-Morana T, Araujo-Vilar D, et al.
Int J Mol Sci . 2024 Sep; 25(17). PMID: 39273270
Lipodystrophic laminopathies are a group of ultra-rare disorders characterised by the presence of pathogenic variants in the same gene () and other related genes, along with an impaired adipose tissue...
2.
Cobelo-Gomez S, Sanchez-Iglesias S, Fernandez-Pombo A, Araujo-Vilar D
Int J Mol Sci . 2024 Jan; 25(2). PMID: 38279282
The accumulation of farnesylated prelamin A has been suggested as one of the mechanisms responsible for the loss of fat in type 2 familial partial lipodystrophy due to variants in...
3.
Fernandez-Pombo A, Prado-Morana T, Diaz-Lopez E, Sanchez-Iglesias S, Castro A, Cobelo-Gomez S, et al.
J Clin Med . 2023 Dec; 12(23). PMID: 38068396
Acquired generalised lipodystrophy (AGL) is a rare disorder characterised by the gradual loss of fat that tends to generalise over time, the origin of which is still not fully clarified....
4.
Fernandez-Pombo A, Sanchez-Iglesias S, Castro-Pais A, Ginzo-Villamayor M, Cobelo-Gomez S, Prado-Morana T, et al.
Front Endocrinol (Lausanne) . 2023 Nov; 14:1250203. PMID: 38034001
The rarity of lipodystrophies implies that they are not well-known, leading to delays in diagnosis/misdiagnosis. The aim of this study was to assess the natural course and comorbidities of generalised...
5.
Cobelo-Gomez S, Sanchez-Iglesias S, Rabano A, Senra A, Aguiar P, Gomez-Lado N, et al.
Neurobiol Dis . 2023 Sep; 187:106300. PMID: 37717662
Celia's encephalopathy or progressive encephalopathy with/without lipodystrophy is a neurodegenerative disease with a fatal prognosis in childhood. It is generally caused by the c.985C > T variant in the BSCL2...
6.
Araujo-Vilar D, Fernandez-Pombo A, Cobelo-Gomez S, Castro A, Sanchez-Iglesias S
Endocrinol Diabetes Nutr (Engl Ed) . 2023 Apr; 70(4):290-292. PMID: 37116975
No abstract available.
7.
Fernandez-Pombo A, Diaz-Lopez E, Castro A, Sanchez-Iglesias S, Cobelo-Gomez S, Prado-Morana T, et al.
Cells . 2023 Mar; 12(5). PMID: 36899861
Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to pathogenic variants in the gene. Its rarity implies that it is not well-known. The aim of this review...
8.
Araujo-Vilar D, Fernandez-Pombo A, Cobelo-Gomez S, Castro A, Sanchez-Iglesias S
Hormones (Athens) . 2022 Jul; 21(4):555-571. PMID: 35835948
With the exception of HIV-associated lipodystrophy, lipodystrophy syndromes are rare conditions characterized by a lack of adipose tissue, which is not generally recovered. As a consequence, an ectopic deposition of...
9.
Fernandez-Pombo A, Sanchez-Iglesias S, Cobelo-Gomez S, Hermida-Ameijeiras A, Araujo-Vilar D
Presse Med . 2021 Oct; 50(3):104071. PMID: 34610417
Lipodystrophies are a heterogeneous group of rare conditions characterised by the loss of adipose tissue. The most common forms are the familial partial lipodystrophy (FPLD) syndromes, which include a set...
10.
Araujo-Vilar D, Fernandez-Pombo A, Victoria B, Mosquera-Orgueira A, Cobelo-Gomez S, Castro-Pais A, et al.
J Clin Med . 2021 Apr; 10(7). PMID: 33916827
Type 2 familial partial lipodystrophy, or Dunnigan disease, is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution. This rare condition results from variants principally affecting exons 8 and...