Lipodystrophy-associated progeroid syndromes.
Araújo-Vilar D, Fernández-Pombo A, Cobelo-Gómez S, Castro A, Sánchez-Iglesias S
Hormones (Athens) 2022. Review.
doi: 10.1007/s42000-022-00386-7
Familial partial lipodystrophy syndromes.
Fernández-Pombo A, Sánchez-Iglesias S, Cobelo-Gómez S, Hermida-Ameijeiras A, Araújo-Vilar D.
Presse Med. 2021; 50(3): 104071. Review.
doi:
10.1016/j.lpm.2021.104071
Variable expressivity and allelic heterogeneity in type 2 Familial partial lipodystrophy: the p.(Thr528Met) LMNA variant.
Araújo-Vilar D, Fernández-Pombo A, Victoria-Martínez B, Mosquera-Orgueira A, Cobelo-Gómez S, Castro-Pais A, Hermida-Ameijeiras A, Loidi L, Sánchez-Iglesias S.
J. Clin. Med. 2021; 10(7): 1497.
doi:
10.3390/jcm10071497
Celia's encephalopathy (BSCL2-gene-related): current understanding.
Sánchez-Iglesias
S, Fernández-Pombo A, Cobelo-Gómez S, Hermida-Ameijeiras A,
Alarcón-Martínez H, Domingo-Jiménez R, Ruíz-Riquelme A.I., Requena J.R.,
Araújo-Vilar D.
J. Clin. Med. 2021; 10(7): 1435.
Review.
doi:
10.3390/jcm10071435
Variable expressivity in type 2 Familial partial lipodystrophy related to R482 and N466 variants in the LMNA gene.
Araújo-Vilar D, Sánchez-Iglesias S, Castro A.I., Cobelo-Gómez S, Hermida-Ameijeiras H, Rodríguez-Carnero G, Casanueva F.F., Fernández-Pombo A
J. Clin. Med. 2021; 10(6): 1259.
doi:
10.3390/jcm10061259
Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
Neurol Sci. 2021; 42(4): 1597-1598.
doi: 10.1007/s10072-020-04780-0
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.
Orphanet J Rare Dis. 2020; 15(1): 81.
doi: 10.1186/s13023-020-01364-1
Immunological features of patients affected by Barraquer-Simons syndrome.
Corvillo F, Ceccarini G, Nozal P, Magno S, Pelosini C, Garrido S, López-Lera A, Moraru M, Vilches C, Fornaciari S, Gabbriellini S, Santini F, Araújo-Vilar D, López-Trascasa M.
Orphanet J Rare Dis. 2020; 15(1): 9.
doi: 10.1186/s13023-019-1292-1
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.
Case Rep Endocrinol. 2019: 2502174.
doi: 10.1155/2019/2502174
[Hyperpigmented macula: An adverse reaction of treatment with metreleptin].
Araújo-Vilar D, Quinteiro S, Fernández-Pompo A, Sánchez-Iglesias S.
An Pediatr (Barc).
2019; pii: S1695-4033(19)30294-2.
doi:
10.1016/j.anpedi.2019.09.014
Altered
adipocyte differentiation and unbalanced autophagy in type 2 Familial
Partial Lipodystrophy: an in vitro and in vivo study of adipose tissue
browning.
Pellegrini C, Columbaro M, Schena E, Prencipe S, Andrenacci D, Iozzo P, Angela Guzzardi M, Capanni C, Mattioli E, Loi M, Araujo-Vilar D, Squarzoni S, Cinti S, Morselli P, Giorgetti A, Zanotti L, Gambineri A, Lattanzi G.
Exp Mol Med. 2019; 51(8): 1-17.
doi: 10.1038/s12276-019-0289-0
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy.
Fernández-Marmiesse A, Sánchez-Iglesias S, Darling A, O'Callaghan MM, Tonda R, Jou C, Araújo-Vilar D.
Seizure. 2019; 71: 161-165.
doi: 10.1016/j.seizure.2019.07.019
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.
Neurogenetics. 2019; 20(2): 73-82
doi: 10.1007/s10048-019-00574-5
Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy.
Oral EA, Gorden P, Cochran E, Araújo-Vilar D, Savage DB, Long A, Fine G, Salinardi T, Brown RJ.
Endocrine. 2019; 64(3): 500-511
doi: 10.1007/s12020-019-01862-8.
Laminopathies.
Lattanzi G, Maggi L, Araújo-Vilar D.
Nucleus. 2019; 9: 543-544.
doi: 10.1080/19491034.2018.1515606
Does seipin play a role in oxidative stress protection and peroxisome biogenesis? New insights from human brain utopsies.
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.
Neuroscience. 2019; 396: 119-137.
doi: 10.1016/j.neuroscience.2018.11.004
Diagnosis and treatment of lipodystrophy: a step-by-step approach.
Araújo-Vilar D, Santini F.
J Endocrinol Invest. 2019; 42(1): 61-73.
doi: 10.1007/s40618-018-0887-z.
Autoantibodies against Perilipin 1 as a cause of acquired generalized lipodystrophy.
Corvillo F, Aparicio V, López-Lera A, Garrido S, Araújo-Vilar D, de Miguel MP, López-Trascasa M.
Front Immunol. 2018;9: 2142.
doi: 10.3389/fimmu.2018.02142.
Guillín-Amarelle
C, Sánchez-Iglesias S, Mera A, Pintos E, Castro-Pais A,
Rodríguez-Cañete L, Pardo J, Casanueva FF, Araújo-Vilar D.
Arch Endocrinol Metab. 2018 Jun;62(3):376-382.
doi: 10.20945/2359-3997000000048.
Brown RJ, Oral EA, Cochran E, Araújo-Vilar D, Savage DB, Long A, Fine G, Salinardi T, Gorden P.
Endocrine. 2018; 60(3): 479-489.
doi: 10.1007/s12020-018-1589-1.
Guillín-Amarelle C, Fernández-Pombo A, Sánchez-Iglesias S, Araújo-Vilar D.
Nucleus. 2018; 9(1): 249-260.
doi: 10.1080/19491034.2018.1454167.
Araújo-Vilar
D, Domingo-Jiménez R, Ruibal Á, Aguiar P, Ibáñez-Micó S, Garrido-Pumar
M, Martínez-Olmos MÁ, López-Soler C, Guillín-Amarelle C,
González-Rodríguez M, Rodríguez-Núñez A, Álvarez-Escudero J, Liñares-Paz
M, González-Méndez B, Rodríguez-García S, Sánchez-Iglesias S.
Eur J Hum Genet. 2018; 26(3): 396-406.
doi: 10.1038/s41431-017-0052-8.
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.
Clin Endocrinol (Oxf). 2018; 88(1): 44-50.
doi: 10.1111/cen.13504.
Chiquette E, Oral EA, Garg A, Araújo-Vilar D, Dhankhar P.
Diabetes Metab Syndr Obes. 2017; 10: 375-383.
doi: 10.2147/DMSO.S130810.
[Acantosis nigricans in severe insulin resistance syndromes].
Araújo-Vilar D, Barreiro J, Sánchez-Iglesias S, Guillín-Amarelle C.
An Pediatr (Barc). 2017; 86(3): 166-168.
doi: 10.1016/j.anpedi.2016.01.003.
Tu Y, Sánchez-Iglesias S, Araújo-Vilar D, Fong LG, Young SG.
Nucleus. 2016; 7(5): 512-521.
doi: 10.1080/19491034.2016.1242542.
Guillín-Amarelle C, Sánchez-Iglesias S, Castro-Pais A, Rodriguez-Cañete L, Ordóñez-Mayán L, Pazos M, González-Méndez B, Rodríguez-García S, Casanueva FF, Fernández-Marmiesse A, Araújo-Vilar D.
Endocrine. 2016; 54(2): 411-421.
doi: 10.1007/s12020-016-1002-x.
Brown RJ, Araujo-Vilar
D, Cheung PT, Dunger D, Garg A, Jack M, Mungai L, Oral EA, Patni N,
Rother KI, von Schnurbein J, Sorkina E, Stanley T, Vigouroux C, Wabitsch
M, Williams R, Yorifuji T.
J Clin Endocrinol Metab. 2016; 101(12): 4500-4511.
doi: 10.1210/jc.2016-2466.
Panikkath R, Panikkath D, Sanchez-Iglesias S, Araujo-Vilar D, Lado-Abeal J.
J Investig Med High Impact Case Rep. 2016; 4(3): 2324709616658495.
doi: 10.1177/2324709616658495.
Jéru I, Vatier C, Araujo-Vilar D, Vigouroux C, Lascols O.
Eur J Hum Genet. 2017; 25(2).
doi: 10.1038/ejhg.2016.102.
Sánchez-Iglesias S, Unruh-Pinheiro A, Guillín-Amarelle C, González-Méndez B, Ruiz-Riquelme A, Rodríguez-Cañete BL, Rodríguez-García S, Guillén-Navarro E, Domingo-Jiménez R, Araújo-Vilar D.
PLoS One. 2016; 11(7): e0158874.
doi: 10.1371/journal.pone.0158874.
Jéru I, Vatier C, Araujo-Vilar D, Vigouroux C, Lascols O.
Eur J Hum Genet. 2016; 24(11).
doi: 10.1038/ejhg.2016.53.
Ruiz-Riquelme
A, Sánchez-Iglesias S, Rábano A, Guillén-Navarro E, Domingo-Jiménez R,
Ramos A, Rosa I, Senra A, Nilsson P, García Á, Araújo-Vilar D, Requena
JR.
Neurobiol Dis. 2015; 83:44-53.
doi: 10.1016/j.nbd.2015.08.006.
Araujo-Vilar
D, Sánchez-Iglesias S, Guillín-Amarelle C, Castro A, Lage M, Pazos M,
Rial JM, Blasco J, Guillén-Navarro E, Domingo-Jiménez R, del Campo MR,
González-Méndez B, Casanueva FF.
Endocrine. 2015; 49(1): 139-47.
doi: 10.1007/s12020-014-0450-4.
Guillín-Amarelle C, Sánchez-Iglesias S, Araújo-Vilar D.
Med Clin (Barc). 2015; 144(2): 80-7.
doi: 10.1016/j.medcli.2014.02.024.
A new seipin-associated neurodegenerative syndrome.
Guillén-Navarro
E, Sánchez-Iglesias S, Domingo-Jiménez R, Victoria B, Ruiz-Riquelme A,
Rábano A, Loidi L, Beiras A, González-Méndez B, Ramos A, López-González
V, Ballesta-Martínez MJ, Garrido-Pumar M, Aguiar P, Ruibal A, Requena
JR, Araújo-Vilar D.
J Med Genet. 2013; 50(6): 401-9.
doi: 10.1136/jmedgenet-2013-101525.
Ramos-Leví
AM, Díaz-Pérez A, Sobrido MJ, Piñeiro-Hermida S, Blanco-Arias P,
Cabezas-Agrícola JM, Pascual-Pascual SI, Araújo-Vilar D.
Muscle Nerve. 2012; 46(6): 961-4.
doi: 10.1002/mus.23466.
Araújo-Vilar
D, Victoria B, González-Méndez B, Barreiro F, Fernández-Rodríguez B,
Cereijo R, Gallego-Escuredo JM, Villarroya F, Pañeda-Menéndez A.
Clin Endocrinol (Oxf). 2012; 76(6): 816-24.
doi: 10.1111/j.1365-2265.2011.04208.x.
Lado Abeal J, Albero Gamboa R, Araujo Vilar D, Barca Mallo O, Bernabeú Moron I, Calvo MT, Castro Piedras I, Martin Calamata J, Palos Paz F, Peinó R, Peteiro D, Victoria B.
Med Clin (Barc). 2011; 137(12): 551-4.
doi: 10.1016/j.medcli.2010.11.037.
Araújo-Vilar D.
An Pediatr (Barc).
2011; 74(6): 423-4; author reply 424-6.
doi: 10.1016/j.anpedi.2010.12.015.
Peteiro-González D, Fernández-Rodríguez B, Cabezas-Agrícola JM, Araújo-Vilar D.
Diabetes Res Clin Pract. 2011; 91(3): e61-3.
doi: 10.1016/j.diabres.2010.11.026.
Victoria B, Cabezas-Agrícola JM, González-Méndez B, Lattanzi G, Del Coco R, Loidi L, Barreiro F, Calvo C, Lado-Abeal J, Araújo-Vilar D.
Diabet Med. 2010; 27(10): 1178-87.
doi: 10.1111/j.1464-5491.2010.03052.x.
Lado-Abeal J, Calvo RM, Victoria B, Castro I, Obregon MJ, Araujo-Vilar D.
Thyroid. 2010;20(4): 419-24.
doi: 10.1089/thy.2009.0267.
Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijóo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N.
J Clin Endocrinol Metab. 2010; 95(2): 779-88.
doi: 10.1210/jc.2009-0651.
Domínguez-Gerpe L, Araújo-Vilar D.
Curr Aging Sci. 2008; 1(3): 202-12.
Fernández-Rodríguez E, Villar-Taibo R, Pinal-Osorio I, Cabezas-Agrícola JM, Anido-Herranz U, Prieto A, Casanueva FF, Araujo-Vilar D.
Arq Bras Endocrinol Metabol. 2008; 52(6): 1066-70.
Araújo-Vilar
D, Lattanzi G, González-Méndez B, Costa-Freitas AT, Prieto D, Columbaro
M, Mattioli E, Victoria B, Martínez-Sánchez N, Ramazanova A, Fraga M,
Beiras A, Forteza J, Domínguez-Gerpe L, Calvo C, Lado-Abeal J.
J Med Genet. 2009; 46(1): 40-8.
doi: 10.1136/jmg.2008.059485.
Lago-Lestón R, Iglesias MJ, San-José E, Areal C, Eiras A, Araújo-Vilar D, Lado-Abeal J, Domínguez-Gerpe L.
Clin Endocrinol (Oxf). 2009; 70(4): 636-43.
doi: 10.1111/j.1365-2265.2008.03377.x.
Palos-Paz
F, Perez-Guerra O, Cameselle-Teijeiro J, Rueda-Chimeno C,
Barreiro-Morandeira F, Lado-Abeal J; Galician Group for the Study of
Toxic Multinodular Goitre, Araujo Vilar D, Argueso R, Barca O,
Botana M, Cabezas-Agrícola JM, Catalina P, Dominguez Gerpe L, Fernandez
T, Mato A, Nuño A, Penin M, Victoria B.
Eur J Endocrinol. 2008; 159(5): 623-31.
doi: 10.1530/EJE-08-0313.
Araújo-Vilar
D, Lado-Abeal J, Palos-Paz F, Lattanzi G, Bandín MA, Bellido D,
Domínguez-Gerpe L, Calvo C, Pérez O, Ramazanova A, Martínez-Sánchez N,
Victoria B, Costa-Freitas AT.
Clin Endocrinol (Oxf). 2008 Jul;69(1):61-8.
doi: 10.1111/j.1365-2265.2007.03146.x.
Palos F, García-Rendueles ME, Araujo-Vilar
D, Obregon MJ, Calvo RM, Cameselle-Teijeiro J, Bravo SB, Perez-Guerra
O, Loidi L, Czarnocka B, Alvarez P, Refetoff S, Dominguez-Gerpe L,
Alvarez CV, Lado-Abeal J.
J Clin Endocrinol Metab. 2008; 93(1): 267-77.
doi: 10.1210/jc.2007-0539.