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September 27, 2025
Compound Heterozygous Complete Loss-of-Function <i>SPINK1</i> Variants as a Novel Cause of Severe Infantile Isolated Exocrine Pancreatic Insufficiency
Emmanuelle Masson, Marc Wangermez, David Tougeron, et al.
Gut
|
August 7, 2015
Identification of a functional PRSS1 promoter variant in linkage disequilibrium with the chronic pancreatitis-protecting rs10273639
Arnaud Boulling, Masahiro Sato, Emmanuelle Masson, et al.
Genes
|
November 27, 2021
Chronic Pancreatitis: The True Pathogenic Culprit within the <i>SPINK1</i> N34S-Containing Haplotype Is No Longer at Large
Na Pu, Emmanuelle Masson, David N Cooper, et al.
European Journal of Human Genetics : EJHG
|
July 11, 2006
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene
Emmanuelle Masson, Cédric Le Maréchal, Jian-Min Chen, et al.
American Journal of Human Genetics
|
September 12, 2024
Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism
Emmanuelle Masson, Sandrine Maestri, Valérie Bordeau, et al.
Genes
|
November 18, 2020
Role of the Common <i>PRSS1-PRSS2</i> Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses
Anthony F Herzig, Emmanuelle Génin, David N Cooper, et al.
Gut
|
March 12, 2024
Strengths and limitations of AlphaMissense in <i>CPA1</i> missense variant classification
Ya-Hui Wang, Emmanuelle Masson, Zhuan Liao, et al.
Genes
|
April 3, 2021
Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review
Jian-Min Chen, Anthony F Herzig, Emmanuelle Génin, et al.
Human Genomics
|
March 27, 2025
Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer
Qi-Wen Wang, Wen-Bin Zou, Emmanuelle Masson, et al.
Clinics and Research in Hepatology and Gastroenterology
|
April 24, 2024
Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis
Solène Dermine, Emmanuelle Masson, Emmanuelle Girodon-Boulandet, et al.
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Search research articles
Search
Showing results (11-20 of 77) with videos related to
Sort By:
Page
of 8
Genes
|
September 27, 2025
Compound Heterozygous Complete Loss-of-Function <i>SPINK1</i> Variants as a Novel Cause of Severe Infantile Isolated Exocrine Pancreatic Insufficiency
Emmanuelle Masson, Marc Wangermez, David Tougeron, et al.
Gut
|
August 7, 2015
Identification of a functional PRSS1 promoter variant in linkage disequilibrium with the chronic pancreatitis-protecting rs10273639
Arnaud Boulling, Masahiro Sato, Emmanuelle Masson, et al.
Genes
|
November 27, 2021
Chronic Pancreatitis: The True Pathogenic Culprit within the <i>SPINK1</i> N34S-Containing Haplotype Is No Longer at Large
Na Pu, Emmanuelle Masson, David N Cooper, et al.
European Journal of Human Genetics : EJHG
|
July 11, 2006
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene
Emmanuelle Masson, Cédric Le Maréchal, Jian-Min Chen, et al.
American Journal of Human Genetics
|
September 12, 2024
Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism
Emmanuelle Masson, Sandrine Maestri, Valérie Bordeau, et al.
Genes
|
November 18, 2020
Role of the Common <i>PRSS1-PRSS2</i> Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses
Anthony F Herzig, Emmanuelle Génin, David N Cooper, et al.
Gut
|
March 12, 2024
Strengths and limitations of AlphaMissense in <i>CPA1</i> missense variant classification
Ya-Hui Wang, Emmanuelle Masson, Zhuan Liao, et al.
Genes
|
April 3, 2021
Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review
Jian-Min Chen, Anthony F Herzig, Emmanuelle Génin, et al.
Human Genomics
|
March 27, 2025
Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer
Qi-Wen Wang, Wen-Bin Zou, Emmanuelle Masson, et al.
Clinics and Research in Hepatology and Gastroenterology
|
April 24, 2024
Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis
Solène Dermine, Emmanuelle Masson, Emmanuelle Girodon-Boulandet, et al.
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of 8