Type of PKD1 Mutation Influences Renal Outcome in ADPKD
LE GALL, Emilie Cornec, AUDREZET, Marie-Pierre, GUILLODO, Marie-Paule, GRALL-JEZEQUEL, Anne, SALIOU, Philippe, FEREC, Claude, LE MEUR, Yannick, CHEN, Jian-Min, HOURMANT, Maryvonne, MORIN, Marie-Pascale, PERRICHOT, Régine, CHARASSE, Christophe, WHEBE, Bassem, RENAUDINEAU, Eric, JOUSSET, Philippe
Published in Journal of the American Society of Nephrology (01.06.2013)
Published in Journal of the American Society of Nephrology (01.06.2013)
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Journal Article
Gene conversion: mechanisms, evolution and human disease
Chen, Jian-Min, Patrinos, George P, Cooper, David N, Chuzhanova, Nadia, Férec, Claude
Published in Nature reviews. Genetics (01.10.2007)
Published in Nature reviews. Genetics (01.10.2007)
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Journal Article
Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On
Cornec-Le Gall, Emilie, Audrézet, Marie-Pierre, Le Meur, Yannick, Chen, Jian-Min, Férec, Claude
Published in Human mutation (01.12.2014)
Published in Human mutation (01.12.2014)
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Journal Article
Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele
Fichou, Yann, Parchure, Disha, Gogri, Harita, Gopalkrishnan, Vidya, Le Maréchal, Cédric, Chen, Jian‐Min, Férec, Claude, Madkaikar, Manisha, Ghosh, Kanjaksha, Kulkarni, Swati
Published in Transfusion (Philadelphia, Pa.) (01.06.2018)
Published in Transfusion (Philadelphia, Pa.) (01.06.2018)
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Journal Article
Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients
Audrézet, Marie-Pierre, Cornec-Le Gall, Emilie, Chen, Jian-Min, Redon, Sylvia, Quéré, Isabelle, Creff, Joelle, Bénech, Caroline, Maestri, Sandrine, Le Meur, Yann, Férec, Claude
Published in Human mutation (01.08.2012)
Published in Human mutation (01.08.2012)
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Journal Article
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis
Hamada, Shin, Masson, Emmanuelle, Chen, Jian‐Min, Sakaguchi, Reiko, Rebours, Vinciane, Buscail, Louis, Matsumoto, Ryotaro, Tanaka, Yu, Kikuta, Kazuhiro, Kataoka, Fumiya, Sasaki, Akira, Le Rhun, Marc, Audin, Hela, Lachaux, Alain, Caumont, Bernard, Lorenzo, Diane, Billiemaz, Kareen, Besnard, Raphael, Koch, Stéphane, Lamireau, Thierry, De Koninck, Xavier, Génin, Emmanuelle, Cooper, David N., Mori, Yasuo, Masamune, Atsushi, Férec, Claude
Published in Human mutation (01.02.2022)
Published in Human mutation (01.02.2022)
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Journal Article
Chronic pancreatitis: genetics and pathogenesis
Chen, Jian-Min, Férec, Claude
Published in Annual review of genomics and human genetics (01.09.2009)
Published in Annual review of genomics and human genetics (01.09.2009)
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Journal Article
Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression
Raud, Loann, Le Tertre, Marlène, Vigneron, Léonie, Ka, Chandran, Richard, Gaëlle, Callebaut, Isabelle, Chen, Jian‐Min, Férec, Claude, Le Gac, Gérald, Fichou, Yann
Published in Transfusion (Philadelphia, Pa.) (01.08.2021)
Published in Transfusion (Philadelphia, Pa.) (01.08.2021)
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Journal Article
Expanding ACMG variant classification guidelines into a general framework
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
Published in Human genomics (16.08.2022)
Published in Human genomics (16.08.2022)
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Journal Article
5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity
Lin, Jin‐Huan, Masson, Emmanuelle, Boulling, Arnaud, Hayden, Matthew, Cooper, David N., Férec, Claude, Liao, Zhuan, Chen, Jian‐Min
Published in Human mutation (01.08.2020)
Published in Human mutation (01.08.2020)
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Journal Article
A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis
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
Published in Nature genetics (01.05.2015)
Published in Nature genetics (01.05.2015)
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Journal Article
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis
Masson, Emmanuelle, Rebours, Vinciane, Buscail, Louis, Frete, Frédérique, Pagenault, Mael, Lachaux, Alain, Chevaux, Jean‐Baptiste, Génin, Emmanuelle, Cooper, David N., Férec, Claude, Chen, Jian‐Min
Published in Human mutation (01.04.2021)
Published in Human mutation (01.04.2021)
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Journal Article
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics
Cooper, David N, Chen, Jian-Min, Ball, Edward V, Howells, Katy, Mort, Matthew, Phillips, Andrew D, Chuzhanova, Nadia, Krawczak, Michael, Kehrer-Sawatzki, Hildegard, Stenson, Peter D
Published in Human mutation (01.06.2010)
Published in Human mutation (01.06.2010)
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Journal Article
Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia
Guéguen, Paul, Dupuis, Arnaud, Py, Jean‐Yves, Desprès, Aurore, Masson, Emmanuelle, Le Marechal, Cédric, Cooper, David N., Gachet, Christian, Chen, Jian‐Min, Férec, Claude
Published in Transfusion (Philadelphia, Pa.) (01.10.2020)
Published in Transfusion (Philadelphia, Pa.) (01.10.2020)
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Journal Article
On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease
Cooper, David N., Bacolla, Albino, Férec, Claude, Vasquez, Karen M., Kehrer-Sawatzki, Hildegard, Chen, Jian-Min
Published in Human mutation (01.10.2011)
Published in Human mutation (01.10.2011)
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Journal Article
First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts
Lin, Jin‐Huan, Tang, Xin‐Ying, Boulling, Arnaud, Zou, Wen‐Bin, Masson, Emmanuelle, Fichou, Yann, Raud, Loann, Le Tertre, Marlène, Deng, Shun‐Jiang, Berlivet, Isabelle, Ka, Chandran, Mort, Matthew, Hayden, Matthew, Leman, Raphaël, Houdayer, Claude, Le Gac, Gerald, Cooper, David N., Li, Zhao‐Shen, Férec, Claude, Liao, Zhuan, Chen, Jian‐Min
Published in Human mutation (01.10.2019)
Published in Human mutation (01.10.2019)
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Journal Article
Competing endogenous RNA network analysis of the molecular mechanisms of ischemic stroke
Chen, Jian-Min, Li, Xiao-Lu, Yang Ye, Xu, Sen-Ming, Chen, Qing-Fa, Xu, Jian-Wen
Published in BMC genomics (08.02.2023)
Published in BMC genomics (08.02.2023)
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Journal Article
Size distributions of polycyclic aromatic hydrocarbons in urban atmosphere: sorption mechanism and source contributions to respiratory deposition
Lv, Yan, Li, Xiang, Xu, Ting Ting, Cheng, Tian Tao, Yang, Xin, Chen, Jian Min, Iinuma, Yoshiteru, Herrmann, Hartmut
Published in Atmospheric chemistry and physics (08.03.2016)
Published in Atmospheric chemistry and physics (08.03.2016)
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