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List of works by Emmanuelle Masson

5' splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity

scientific article published on 05 May 2020

Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis

scientific article published on 20 January 2020

Common variants in glyoxalase I do not increase chronic pancreatitis risk

scientific article published on 29 October 2019

First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts

scientific article published on 24 June 2019

Functional Analysis of Eight Missense Mutations in the SPINK1 Gene ⬇️

scientific article published on 01 March 2012

Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis

scientific article

Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype

scientific article published on 29 May 2017

Most unambiguous loss-of-function CPA1 mutations are unlikely to predispose to chronic pancreatitis

scientific article published on 12 March 2019

Mutational analysis of ATP8B1 in patients with chronic pancreatitis

scientific article

Natural history of SPINK1 germline mutation related-pancreatitis

scientific article published on 15 October 2019

No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations

scientific article published on 02 March 2016

PRSS1 copy number variants and promoter polymorphisms in pancreatitis: common pathogenetic mechanism, different genetic effects.

scientific article

Protease-Sensitive Pancreatic Lipase Variants Are Associated With Early Onset Chronic Pancreatitis

scientific article published on 01 June 2019

Role of the Common PRSS1-PRSS2 Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses

scientific article published on 13 November 2020

Severe acute pancreatitis in a child with phenylketonuria

scientific article published on 06 January 2019

Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene

scientific article

The CTRB1-CTRB2 risk allele for chronic pancreatitis discovered in European populations does not contribute to disease risk variation in the Chinese population due to near allele fixation

scientific article published on 26 September 2017

The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency

scientific article published on 16 December 2020

Toward a clinical diagnostic pipeline for SPINK1 intronic variants

scientific article published on 12 February 2019

Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis

scientific article published on 10 January 2020

Variants in CPA1 are strongly associated with early onset chronic pancreatitis

scientific article published on 18 August 2013

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