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M

M. Perez

Researcher at Wellcome Trust Sanger Institute

Publications -  15
Citations -  3922

M. Perez is an academic researcher from Wellcome Trust Sanger Institute. The author has contributed to research in topics: Genome-wide association study & Ichthyosis. The author has an hindex of 7, co-authored 14 publications receiving 3571 citations.

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Journal ArticleDOI

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Stephen Sawcer, +265 more
- 10 Aug 2011 - 
TL;DR: In this article, a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, they have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci.
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Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Lam C. Tsoi, +215 more
- 01 Dec 2012 - 
TL;DR: A meta-analysis of genome-wide association studies and independent data sets genotyped on the Immunochip identified 15 new susceptibility loci, increasing to 36 the number associated with psoriasis in European individuals, and identified five independent signals within previously known loci.
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Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

Jeffrey C. Barrett, +90 more
- 15 Nov 2009 - 
TL;DR: The Wellcome Trust Case Control Consortium 2 performed a genome-wide association scan for ulcerative colitis in 2,361 cases and 5,417 controls as mentioned in this paper, finding significant evidence of association at three new loci, each containing at least one biologically relevant candidate gene, on chromosomes 20q13 (HNF4A), 16q22 (CDH1 and CDH3), and 7q31 (LAMB1).
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Generalized acquired cutis laxa associated with coeliac disease: evidence of immunoglobulin A deposits on the dermal elastic fibres.

TL;DR: A 35‐year‐old man with generalized acquired cutis laxa (GACL) associated with a persistent papular erythematous eruption that histopathologically showed some resemblance to dermatitis herpetiformis is reported, suggesting that destruction of elastic tissue may be immunologically mediated.
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Papules in the auricular concha: lichen amyloidosus in a case of biphasic amyloidosis.

TL;DR: The first reported case of a biphasic form of amyloidosis whose lichenoid counterpart consists of papules on the ears is presented, suggesting that primary cutaneous localized amyloidsosis may have peculiar clinical manifestations depending on the location of the lesion.