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Items: 1 to 20 of 44

1.

Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene.

Silva P, Justicia A, Regueiro A, Fariña S, Couselo JM, Loidi L.

Genes Immun. 2017 Sep;18(3):197-199. doi: 10.1038/gene.2017.14. Epub 2017 Aug 3.

PMID:
28769069
2.

Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.

Gonzalez F, Loidi L, Abalo-Lojo JM.

Ophthalmic Genet. 2017 May-Jun;38(3):277-280. doi: 10.1080/13816810.2016.1210649. Epub 2016 Aug 2.

PMID:
27485918
3.

Pegvisomant-Induced Cholestatic Hepatitis in an Acromegalic Patient with UGT1A1 (⁎) 28 Mutation.

Mallea-Gil MS, Bernabeu I, Spiraquis A, Avangina A, Loidi L, Ballarino C.

Case Rep Endocrinol. 2016;2016:2087102. doi: 10.1155/2016/2087102. Epub 2016 Feb 9.

4.

A Calcitonin Non-producing Neuroendocrine Tumor of the Thyroid Gland.

Kasajima A, Cameselle-Teijeiro J, Loidi L, Takahashi Y, Nakashima N, Sato S, Fujishima F, Watanabe M, Nakazawa T, Naganuma H, Kondo T, Kato R, Sasano H.

Endocr Pathol. 2016 Dec;27(4):325-331.

PMID:
26860935
5.

Contact dermatitis caused by polyethylene glycol-7 monooleate.

Conejero C, Loidi L, Hervella M.

Contact Dermatitis. 2015 Mar;72(3):185-6. doi: 10.1111/cod.12340. Epub 2015 Jan 21. No abstract available.

PMID:
25604056
6.

Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation.

Resende E, Gόmez GN, Nascimento M, Loidi L, Saborido Fiaño R, Cabanas Rodrίguez P, Castro-Feijoo L, Barreiro Conde J.

Hormones (Athens). 2015 Apr-Jun;14(2):312-6. doi: 10.14310/horm.2002.1513.

7.

Dermoscopic features of pagetoid dyskeratosis of the palm.

Loidi L, Mitxelena J, Córdoba A, Yanguas I.

Actas Dermosifiliogr. 2014 Oct;105(8):804-5. doi: 10.1016/j.ad.2013.12.005. Epub 2014 Feb 22. English, Spanish. No abstract available.

PMID:
24565210
8.

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 Jun;50(6):401-9. doi: 10.1136/jmedgenet-2013-101525. Epub 2013 Apr 6.

PMID:
23564749
9.

Determinants of serum concentrations of lipopolysaccharide-binding protein (LBP) in the adult population: the role of obesity.

Gonzalez-Quintela A, Alonso M, Campos J, Vizcaino L, Loidi L, Gude F.

PLoS One. 2013;8(1):e54600. doi: 10.1371/journal.pone.0054600. Epub 2013 Jan 22.

10.

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F.

Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi: 10.1016/j.ajhg.2011.11.020. Epub 2011 Dec 29.

11.

Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.

Morey M, Castro-Feijóo L, Barreiro J, Cabanas P, Pombo M, Gil M, Bernabeu I, Díaz-Grande JM, Rey-Cordo L, Ariceta G, Rica I, Nieto J, Vilalta R, Martorell L, Vila-Cots J, Aleixandre F, Fontalba A, Soriano-Guillén L, García-Sagredo JM, García-Miñaur S, Rodríguez B, Juaristi S, García-Pardos C, Martínez-Peinado A, Millán JM, Medeira A, Moldovan O, Fernandez A, Loidi L.

BMC Med Genet. 2011 Sep 8;12:116. doi: 10.1186/1471-2350-12-116.

12.

CAMT in a female with developmental delay, facial malformations and central nervous system anomalies.

Martinón-Torres N, Vázquez-Donsión M, Loidi L, Couselo JM.

Pediatr Blood Cancer. 2011 Mar;56(3):452-3. doi: 10.1002/pbc.22904. Epub 2010 Nov 12.

PMID:
21225925
13.

Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant.

Parajes S, González-Quintela A, Campos J, Quinteiro C, Domínguez F, Loidi L.

BMC Genet. 2010 Dec 10;11:110. doi: 10.1186/1471-2156-11-110.

14.

Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy.

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 Oct;27(10):1178-87. doi: 10.1111/j.1464-5491.2010.03052.x.

PMID:
20854387
15.

Pegvisomant-induced liver injury is related to the UGT1A1*28 polymorphism of Gilbert's syndrome.

Bernabeu I, Marazuela M, Lucas T, Loidi L, Alvarez-Escolá C, Luque-Ramírez M, Fernandez-Rodriguez E, Paniagua AE, Quinteiro C, Casanueva FF.

J Clin Endocrinol Metab. 2010 May;95(5):2147-54. doi: 10.1210/jc.2009-2547. Epub 2010 Mar 5.

PMID:
20207827
16.

Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.

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 Feb;95(2):779-88. doi: 10.1210/jc.2009-0651. Epub 2010 Jan 20.

17.

The exon 3-deleted growth hormone receptor is associated with better response to pegvisomant therapy in acromegaly.

Bernabeu I, Alvarez-Escolá C, Quinteiro C, Lucas T, Puig-Domingo M, Luque-Ramírez M, de Miguel-Novoa P, Fernandez-Rodriguez E, Halperin I, Loidi L, Casanueva FF, Marazuela M.

J Clin Endocrinol Metab. 2010 Jan;95(1):222-9. doi: 10.1210/jc.2009-1630. Epub 2009 Oct 22.

PMID:
19850678
18.

Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.

Bleicken C, Loidi L, Dhir V, Parajes S, Quinteiro C, Dominguez F, Grötzinger J, Sippell WG, Riepe FG, Arlt W, Krone N.

Hum Mutat. 2009 Feb;30(2):E443-50. doi: 10.1002/humu.20926.

PMID:
19058224
19.

Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

Castro-Feijóo L, Loidi L, Vidal A, Parajes S, Rosón E, Alvarez A, Cabanas P, Barreiro J, Alonso A, Domínguez F, Pombo M.

Eur J Endocrinol. 2008 Sep;159(3):243-9. doi: 10.1530/EJE-08-0393. Epub 2008 Jun 26.

20.

Serum TNF-alpha levels in relation to alcohol consumption and common TNF gene polymorphisms.

Gonzalez-Quintela A, Campos J, Loidi L, Quinteiro C, Perez LF, Gude F.

Alcohol. 2008 Sep;42(6):513-8. doi: 10.1016/j.alcohol.2008.04.008. Epub 2008 Jun 24.

PMID:
18579335

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