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Lista de obras de Bernardo Antonio Pons-Estel

A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus

artículo científico publicado en 2008

A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus

scholarly article by Zubin Patel published in April 2018

ABIN1 dysfunction as a genetic basis for lupus nephritis

artículo científico publicado en 2013

Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus

artículo científico publicado en 2011

Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility

artículo científico publicado en 2011

Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus

artículo científico publicado en 2012

Evaluation of TRAF6 in a large multiancestral lupus cohort

artículo científico publicado en 2012

Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein

artículo científico publicado en 2012

Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups

artículo científico publicado en 2012

Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study

artículo científico publicado en 2012

Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus

artículo científico publicado en 2009

Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study

artículo científico publicado en 2010

Impact of genetic ancestry and sociodemographic status on the clinical expression of systemic lupus erythematosus in American Indian-European populations

artículo científico publicado en 2012

MicroRNA-3148 modulates allelic expression of toll-like receptor 7 variant associated with systemic lupus erythematosus

artículo científico publicado en 2013

Novel association of acid phosphatase locus 1*C allele with systemic lupus erythematosus

artículo científico publicado en 2011

PTPN22 association in systemic lupus erythematosus (SLE) with respect to individual ancestry and clinical sub-phenotypes

artículo científico publicado en 2013

PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6.

artículo científico publicado en 2014

Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus

artículo científico publicado en 2011

Preferential binding to Elk-1 by SLE-associated IL10 risk allele upregulates IL10 expression

artículo científico publicado en 2013

Promoter Insertion/Deletion in the IRF5 Gene Is Highly Associated with Susceptibility to Systemic Lupus Erythematosus in Distinct Populations, But Exerts a Modest Effect on Gene Expression in Peripheral Blood Mononuclear Cells

article

Trans-ancestral studies fine map the SLE-susceptibility locus TNFSF4.

artículo científico publicado en 2013

Transancestral mapping and genetic load in systemic lupus erythematosus

artículo científico

Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries

artículo científico publicado en 2012