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66 résultats

	Pour les 66 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 3 Page suivante	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		Toward a clinical diagnostic pipeline for SPINK1 intronic variants Xin-Ying Tang , Jin-Huan Lin , Wen-Bin Zou , Emmanuelle Masson , Arnaud Boulling , et al. Human Genomics, 2019, 13 (1), pp.785-786. ⟨10.1186/s40246-019-0193-7⟩ Article dans une revue inserm-02862487v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis Arnaud Boulling , Amandine Abrantes , Emmanuelle Masson , David Cooper , Michel Robaszkiewicz , et al. Human Mutation, 2016, 37 (11), pp.1149-1152. ⟨10.1002/humu.23053⟩ Article dans une revue hal-02946953v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The three common polymorphisms p.A986S, p.R990G and p.Q1011E in the calcium sensing receptor (CASR) are not associated with chronic pancreatitis Maren Ewers , Lucie Canaff , Antonia Em. Weh , Emmanuelle Masson , Katharina Eiseler , et al. Pancreatology, 2021, 21 (7), pp.1299-1304. ⟨10.1016/j.pan.2021.08.008⟩ Article dans une revue hal-03700599v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene Agnieszka Magdalena Rygiel , Lara Sophie Unger , Franziska Lena Sörgel , Emmanuelle Masson , Ryotaro Matsumoto , et al. Pancreatology, 2022, 22 (5), pp.564-571. ⟨10.1016/j.pan.2022.04.015⟩ Article dans une revue hal-03706146v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Asian Population Is More Prone to Develop High-Risk Myelodysplastic Syndrome, Concordantly with Their Propensity to Exhibit High-Risk Cytogenetic Aberrations Yan Jiang , Jean-Richard Eveillard , Marie-Anne Couturier , Benoit Soubise , Jian-Min Chen , et al. Cancers, 2021, 13 (3), pp.481. ⟨10.3390/cancers13030481⟩ Article dans une revue hal-03701100v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis Emmanuelle Masson , Maren Ewers , Sumit Paliwal , Kiyoshi Kume , Virginie Scotet , et al. Pancreatology, 2022, 23 (1), pp.48-56. ⟨10.1016/j.pan.2022.11.013⟩ Article dans une revue hal-03921852v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants Hao Wu , Jin-Huan Lin , Xin-Ying Tang , Gaëlle Marenne , Wen-Bin Zou , et al. Human Genomics, 2024, 18 (1), pp.21. ⟨10.1186/s40246-024-00586-9⟩ Article dans une revue hal-04503184v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene Théa Venet , Emmanuelle Masson , Cécile Talbotec , Kareen Billiemaz , Renaud Touraine , et al. Human Mutation, 2017, 38 (12), pp.1660-1665. ⟨10.1002/humu.23343⟩ Article dans une revue inserm-02862494v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in Mice Xiao-Tong Mao , Wen-Bin Zou , Yu Cao , Yuan-Chen Wang , Shun-Jiang Deng , et al. Cellular and Molecular Gastroenterology and Hepatology, 2022, 14 (1), pp.55-74. ⟨10.1016/j.jcmgh.2022.03.013⟩ Article dans une revue hal-03705593v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Functional Analysis of Eight Missense Mutations in the SPINK1 Gene Arnaud Boulling , Steven Keiles , Emmanuelle Masson , Jian-Min Chen , Claude Férec Pancreas, 2012, 41 (2), pp.329-330. ⟨10.1097/MPA.0b013e3182277b83⟩ Article dans une revue hal-02946693v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Genetic analysis of the STIM1 gene in chronic pancreatitis Emmanuelle Masson , Wen-Bin Zou , Claudia Ruffert , Vanessa Holste , Patrick Michl , et al. 2022 Pré-publication, Document de travail hal-03811468v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function Yuepeng Hu , Guofu Zhang , Qi Yang , Na Pu , Kaiwei Li , et al. Lipids in Health and Disease, 2023, 22 (1), pp.119. ⟨10.1186/s12944-023-01875-3⟩ Article dans une revue hal-04188283v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis Xiao-Yao Li , Na Pu , Wei-Wei Chen , Xiao-Lei Shi , Guo-Fu Zhang , et al. Lipids in Health and Disease, 2020, 19 (1), pp.63. ⟨10.1186/s12944-020-01249-z⟩ Article dans une revue hal-03700919v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Most unambiguous loss-of-function CPA1 mutations are unlikely to predispose to chronic pancreatitis Jin-Huan Lin , Arnaud Boulling , Emmanuelle Masson , David Cooper , Zhao-Shen Li , et al. Gut, 2020, 69 (4), pp.785-786. ⟨10.1136/gutjnl-2019-318564⟩ Article dans une revue hal-02947002v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Local DNA sequence determinants of FUT2 copy number variation. Jian-Min Chen , David N. Cooper , Claude Férec Transfusion, 2011, 51 (6), pp.1359-61. ⟨10.1111/j.1537-2995.2011.03080.x⟩ Article dans une revue istex inserm-00600676v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis Miguel Burgos , Reginald Philippe , Fabrice Antigny , Paul Buscaglia , Emmanuelle Masson , et al. Journal of Cell Science, 2021, 134 (3), ⟨10.1242/jcs.244012⟩ Article dans une revue hal-03368019v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Toward a clinical diagnostic pipeline for SPINK1 intronic variants Xin-Ying Tang , Jin-Huan Lin , Wen-Bin Zou , Emmanuelle Masson , Arnaud Boulling , et al. Human Genomics, 2019, 13 (1), pp.8. ⟨10.1186/s40246-019-0193-7⟩ Article dans une revue hal-03546059v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing Hao Wu , Arnaud Boulling , David Cooper , Zhao-Shen Li , Zhuan Liao , et al. Gut, 2017, 66 (12), pp.2195-2196. ⟨10.1136/gutjnl-2017-313948⟩ Article dans une revue hal-02946961v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Gene–environment interaction between APOA5 c.553G>T and pregnancy in hypertriglyceridemia-induced acute pancreatitis Na Pu , Qi Yang , Xiao-Lei Shi , Wei-Wei Chen , Xiao-Yao Li , et al. Journal of clinical lipidology, 2020, 14 (4), pp.498-506. ⟨10.1016/j.jacl.2020.05.003⟩ Article dans une revue hal-03700390v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis Emmanuelle Génin , David Cooper , Emmanuelle Masson , Férec Claude , Jian-Min Chen Gut, 2021 Article dans une revue hal-03618383v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		No Convincing Evidence to Support a Bimodal Age of Onset in Idiopathic Chronic Pancreatitis Jian-Min Chen , David Cooper , Claude Férec Clinical Gastroenterology and Hepatology, 2022, 20 (1), pp.244-245. ⟨10.1016/j.cgh.2021.01.049⟩ Article dans une revue hal-03700590v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis Karianne Fjeld , Emmanuelle Masson , Jin-Huan Lin , Patrick Michl , Tomasz Stokowy , et al. Pancreatology, 2020, 20 (3), pp.377-384. ⟨10.1016/j.pan.2020.01.011⟩ Article dans une revue hal-03617720v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review Jian-Min Chen , Anthony Herzig , Emmanuelle Génin , Emmanuelle Masson , David Cooper , et al. Genes, 2021, 12 (4), pp.471. ⟨10.3390/genes12040471⟩ Article dans une revue hal-03700585v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clinical interpretation of SPINK1 and CTRC variants in pancreatitis Emmanuelle Girodon , Vinciane Rebours , Jian-Min Chen , Adrien Pagin , Philippe Levy , et al. Pancreatology, 2020, 20 (7), pp.1354-1367. ⟨10.1016/j.pan.2020.09.001⟩ Article dans une revue hal-03617783v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Strengths and limitations of AlphaMissense in CPA1 missense variant classification Ya-Hui Wang , Emmanuelle Masson , Zhuan Liao , Claude Férec , Wen-Bin Zou , et al. Gut, 2024, pp.gutjnl-2024-332120. ⟨10.1136/gutjnl-2024-332120⟩ Article dans une revue hal-04504482v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis Wen-Bin Zou , David Cooper , Emmanuelle Masson , Na Pu , Zhuan Liao , et al. Human Genetics, 2022, 41 (4), pp.581-588. ⟨10.1007/s00439-022-02436-x⟩ Article dans une revue hal-03706750v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		No Association Between CEL–HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations Wen-Bin Zou , Arnaud Boulling , Atsushi Masamune , Prachand Issarapu , Emmanuelle Masson , et al. Gastroenterology, 2016, 150 (7), pp.1558-1560.e5. ⟨10.1053/j.gastro.2016.02.071⟩ Article dans une revue hal-02946806v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		In silico prioritization and further functional characterization of SPINK1 intronic variants Wen-Bin Zou , Hao Wu , Arnaud Boulling , David Cooper , Zhao-Shen Li , et al. Human Genomics, 2017, 11 (1), ⟨10.1186/s40246-017-0103-9⟩ Article dans une revue hal-02946980v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis Wen-Bin Zou , Arnaud Boulling , Emmanuelle Masson , David Cooper , Zhuan Liao , et al. Gut, 2016, 65 (5), pp.884-886. ⟨10.1136/gutjnl-2015-311168⟩ Article dans une revue hal-02946789v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity Jin‐huan Lin , Emmanuelle Masson , Arnaud Boulling , Matthew Hayden , David Cooper , et al. Human Mutation, 2020, 41 (8), pp.1358-1364. ⟨10.1002/humu.24029⟩ Article dans une revue hal-02947032v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

Toward a clinical diagnostic pipeline for SPINK1 intronic variants

Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis

The three common polymorphisms p.A986S, p.R990G and p.Q1011E in the calcium sensing receptor (CASR) are not associated with chronic pancreatitis

Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene

Asian Population Is More Prone to Develop High-Risk Myelodysplastic Syndrome, Concordantly with Their Propensity to Exhibit High-Risk Cytogenetic Aberrations

The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

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

The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in Mice

Functional Analysis of Eight Missense Mutations in the SPINK1 Gene

Genetic analysis of the STIM1 gene in chronic pancreatitis

The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function

Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis

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

Local DNA sequence determinants of FUT2 copy number variation.

The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis

Toward a clinical diagnostic pipeline for SPINK1 intronic variants

In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing

Gene–environment interaction between APOA5 c.553G>T and pregnancy in hypertriglyceridemia-induced acute pancreatitis

NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis

No Convincing Evidence to Support a Bimodal Age of Onset in Idiopathic Chronic Pancreatitis

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

Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review

Clinical interpretation of SPINK1 and CTRC variants in pancreatitis

Strengths and limitations of AlphaMissense in CPA1 missense variant classification

Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis

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

In silico prioritization and further functional characterization of SPINK1 intronic variants

Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis

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