GENOMICA FUNCIONAL Y EVOLUTIVA
GENETICA DE MAMIFEROS
Hospital Universitari de Bellvitge
l'Hospitalet de Llobregat, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitari de Bellvitge (28)
2023
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Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?
International Journal of Molecular Sciences, Vol. 24, Núm. 17
2022
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Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome
Journal of Personalized Medicine, Vol. 12, Núm. 6
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Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility
Andrology, Vol. 10, Núm. 7, pp. 1339-1350
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Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia
Frontiers in Cell and Developmental Biology, Vol. 10
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Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia
Reproductive BioMedicine Online, Vol. 45, Núm. 2, pp. 332-340
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Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility
Communications Biology, Vol. 5, Núm. 1
2021
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Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort
Andrology, Vol. 9, Núm. 4, pp. 1151-1165
2020
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Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment
Fertility and Sterility, Vol. 114, Núm. 2, pp. 398-406
2019
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GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
Nature Communications, Vol. 10, Núm. 1
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Identification of a 3′-Untranslated Genetic Variant of RARB Associated With Carotid Intima-Media Thickness in Rheumatoid Arthritis: A Genome-Wide Association Study
Arthritis and Rheumatology, Vol. 71, Núm. 3, pp. 351-360
2017
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A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis
American Journal of Human Genetics, Vol. 100, Núm. 1, pp. 64-74
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An MIF promoter polymorphism is associated with susceptibility to pulmonary arterial hypertension in diffuse cutaneous systemic sclerosis
Journal of Rheumatology, Vol. 44, Núm. 10, pp. 1453-1457
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Analysis of ATP8B4 F436L Missense Variant in a Large Systemic Sclerosis Cohort
Arthritis and Rheumatology, Vol. 69, Núm. 6, pp. 1337-1338
2016
2015
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A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides
Annals of the Rheumatic Diseases, Vol. 74, Núm. 3
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A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility
American Journal of Human Genetics, Vol. 96, Núm. 4, pp. 565-580
2014
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A genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility
Arthritis Research and Therapy, Vol. 16, Núm. 1
2013
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A case-control study suggests that the CCR6 locus is not involved in the susceptibility to giant cell arteritis
Clinical and Experimental Rheumatology, Vol. 31, Núm. SUPPL.75
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Evidence of association of the NLRP1 gene with giant cell arteritis
Annals of the Rheumatic Diseases
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Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis
Annals of the Rheumatic Diseases, Vol. 72, Núm. 11, pp. 1882-1886