A Conservative Assessment of the Major Genetic Causes of Idiopathic Chronic Pancreatitis: Data from a Comprehensive Analysis of PRSS1, SPINK1, CTRC and CFTR Genes in 253 Young Fren...

por Masson, Emmanuelle, Chen, Jian-Min, Audrézet, Marie-Pierre, Cooper, David N., Férec, Claude
Publicado 2013

Chronic Pancreatitis: The True Pathogenic Culprit within the SPINK1 N34S-Containing Haplotype Is No Longer at Large

por Pu, Na, Masson, Emmanuelle, Cooper, David N., Génin, Emmanuelle, Férec, Claude, Chen, Jian-Min
Publicado 2021

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

por Herzig, Anthony F., Génin, Emmanuelle, Cooper, David N., Masson, Emmanuelle, Férec, Claude, Chen, Jian-Min
Publicado 2020

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

por Chen, Jian-Min, Herzig, Anthony F., Génin, Emmanuelle, Masson, Emmanuelle, Cooper, David N., Férec, Claude
Publicado 2021

The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted

por Chen, Jian-Min, Lin, Jin-Huan, Masson, Emmanuelle, Liao, Zhuan, Férec, Claude, Cooper, David N., Hayden, Matthew
Publicado 2020

Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date

por Zhang, Guofu, Hu, Yuepeng, Yang, Qi, Pu, Na, Li, Gang, Zhang, Jingzhu, Tong, Zhihui, Masson, Emmanuelle, Cooper, David N., Chen, Jian-Min, Li, Weiqin
Publicado 2023

Assessing the pathological relevance of SPINK1 promoter variants

por Boulling, Arnaud, Witt, Heiko, Chandak, Giriraj Ratan, Masson, Emmanuelle, Paliwal, Sumit, Bhaskar, Seema, Reddy, D Nageshwar, Cooper, David N, Chen, Jian-Min, Férec, Claude
Publicado 2011

Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays

por Lin, Jin-Huan, Wu, Hao, Zou, Wen-Bin, Masson, Emmanuelle, Fichou, Yann, Le Gac, Gerald, Cooper, David N., Férec, Claude, Liao, Zhuan, Chen, Jian-Min
Publicado 2021

Expanding ACMG variant classification guidelines into a general framework

por Masson, Emmanuelle, Zou, Wen-Bin, Génin, Emmanuelle, Cooper, David N., Le Gac, Gerald, Fichou, Yann, Pu, Na, Rebours, Vinciane, Férec, Claude, Liao, Zhuan, Chen, Jian-Min
Publicado 2022

Natural history of SPINK1 germline mutation related-pancreatitis

por Muller, Nelly, Sarantitis, Ioannis, Rouanet, Marie, de Mestier, Louis, Halloran, Christopher, Greenhalf, William, Férec, Claude, Masson, Emmanuelle, Ruszniewski, Philippe, Lévy, Philippe, Neoptolemos, John, Buscail, Louis, Rebours, Vinciane
Publicado 2019

Toward a clinical diagnostic pipeline for SPINK1 intronic variants

por Tang, Xin-Ying, Lin, Jin-Huan, Zou, Wen-Bin, Masson, Emmanuelle, Boulling, Arnaud, Deng, Shun-Jiang, Cooper, David N., Liao, Zhuan, Férec, Claude, Li, Zhao-Shen, Chen, Jian-Min
Publicado 2019

Mutational Analysis of ATP8B1 in Patients with Chronic Pancreatitis

por van der Woerd, Wendy L., van Haaften-Visser, Désirée Y., van de Graaf, Stan F. J., Férec, Claude, Masson, Emmanuelle, Stapelbroek, Janneke M., Bugert, Peter, Witt, Heiko, Houwen, Roderick H. J.
Publicado 2013

A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis

por Fjeld, Karianne, Weiss, Frank Ulrich, Lasher, Denise, Rosendahl, Jonas, Chen, Jian-Min, Johansson, Bente B., Kirsten, Holger, Ruffert, Claudia, Masson, Emmanuelle, Steine, Solrun J., Bugert, Peter, Cnop, Miriam, Grützmann, Robert, Mayerle, Julia, Mössner, Joachim, Ringdal, Monika, Schulz, Hans-Ulrich, Sendler, Matthias, Simon, Peter, Sztromwasser, Paweł, Torsvik, Janniche, Scholz, Markus, Tjora, Erling, Férec, Claude, Witt, Heiko, Lerch, Markus M., Njølstad, Pål R., Johansson, Stefan, Molven, Anders
Publicado 2015

SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis

por Zou, Wen-Bin, Tang, Xin-Ying, Zhou, Dai-Zhan, Qian, Yang-Yang, Hu, Liang-Hao, Yu, Fei-Fei, Yu, Dong, Wu, Hao, Deng, Shun-Jiang, Lin, Jin-Huan, Zhao, An-Jing, Zhao, Zhen-Hua, Wu, Hong-Yu, Zhu, Jia-Hui, Qian, Wei, Wang, Lei, Xin, Lei, Wang, Min-Jun, Wang, Li-Juan, Fang, Xue, He, Lin, Masson, Emmanuelle, Cooper, David N., Férec, Claude, Li, Zhao-Shen, Chen, Jian-Min, Liao, Zhuan
Publicado 2018

Common variants in glyoxalase I do not increase chronic pancreatitis risk

por Kaune, Tom, Hollenbach, Marcus, Keil, Bettina, Chen, Jian-Min, Masson, Emmanuelle, Becker, Carla, Damm, Marko, Ruffert, Claudia, Grützmann, Robert, Hoffmeister, Albrecht, te Morsche, Rene H. M., Cavestro, Giulia Martina, Zuppardo, Raffaella Alessia, Saftoiu, Adrian, Malecka-Panas, Ewa, Głuszek, Stanislaw, Bugert, Peter, Lerch, Markus M., Weiss, Frank Ulrich, Zou, Wen-Bin, Liao, Zhuan, Hegyi, Peter, Drenth, Joost PH, Riedel, Jan, Férec, Claude, Scholz, Markus, Kirsten, Holger, Tóth, Andrea, Ewers, Maren, Witt, Heiko, Griesmann, Heidi, Michl, Patrick, Rosendahl, Jonas
Publicado 2019

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

por Rosendahl, Jonas, Kirsten, Holger, Hegyi, Eszter, Kovacs, Peter, Weiss, Frank Ulrich, Laumen, Helmut, Lichtner, Peter, Ruffert, Claudia, Chen, Jian-Min, Masson, Emmanuelle, Beer, Sebastian, Zimmer, Constantin, Seltsam, Katharina, Algül, Hana, Bühler, Florence, Bruno, Marco J, Bugert, Peter, Burkhardt, Ralph, Cavestro, Giulia Martina, Cichoz-Lach, Halina, Farré, Antoni, Frank, Josef, Gambaro, Giovanni, Gimpfl, Sebastian, Grallert, Harald, Griesmann, Heidi, Grützmann, Robert, Hellerbrand, Claus, Hegyi, Péter, Hollenbach, Marcus, Iordache, Sevastitia, Jurkowska, Grazyna, Keim, Volker, Kiefer, Falk, Krug, Sebastian, Landt, Olfert, Leo, Milena Di, Lerch, Markus M, Lévy, Philippe, Löffler, Markus, Löhr, Matthias, Ludwig, Maren, Macek, Milan, Malats, Nuria, Malecka-Panas, Ewa, Malerba, Giovanni, Mann, Karl, Mayerle, Julia, Mohr, Sonja, te Morsche, Rene H M, Motyka, Marie, Mueller, Sebastian, Müller, Thomas, Nöthen, Markus M, Pedrazzoli, Sergio, Pereira, Stephen P, Peters, Annette, Pfützer, Roland, Real, Francisco X, Rebours, Vinciane, Ridinger, Monika, Rietschel, Marcella, Rösmann, Eva, Saftoiu, Adrian, Schneider, Alexander, Schulz, Hans-Ulrich, Soranzo, Nicole, Soyka, Michael, Simon, Peter, Skipworth, James, Stickel, Felix, Strauch, Konstantin, Stumvoll, Michael, Testoni, Pier Alberto, Tönjes, Anke, Werner, Lena, Werner, Jens, Wodarz, Norbert, Ziegler, Martin, Masamune, Atsushi, Mössner, Joachim, Férec, Claude, Michl, Patrick, P H Drenth, Joost, Witt, Heiko, Scholz, Markus, Sahin-Tóth, Miklós
Publicado 2018