Nation‐wide investigation of RHD variants in Thai blood donors: Impact for molecular diagnostics
Thongbut, Jairak, Laengsri, Vishuda, Raud, Loann, Promwong, Charuporn, I‐Na‐Ayudhya, Chartchalerm, Férec, Claude, Nuchnoi, Pornlada, Fichou, Yann
Published in Transfusion (Philadelphia, Pa.) (01.03.2021)
Published in Transfusion (Philadelphia, Pa.) (01.03.2021)
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Journal Article
Mutations to ALG5 Cause Autosomal Dominant Fibrocystic Kidney Disease: PO1245
Lemoine, Hugo, Raud, Loann, Olinger, Eric G., Sayer, John A., Harris, Peter C., Meur, Yannick Le, Audrezet, Marie-Pierre, Gall, Emilie Cornec-Le
Published in Journal of the American Society of Nephrology (01.10.2021)
Published in Journal of the American Society of Nephrology (01.10.2021)
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Journal Article
Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype
Raud, Loann, Ka, Chandran, Gourlaouen, Isabelle, Callebaut, Isabelle, Férec, Claude, Le Gac, Gérald, Fichou, Yann
Published in Transfusion (Philadelphia, Pa.) (01.04.2019)
Published in Transfusion (Philadelphia, Pa.) (01.04.2019)
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Journal Article
Comprehensive Molecular Analysis of Serologically D-Negative and Weak/Partial D Phenotype in Thai Blood Donors
Thongbut, Jairak, Raud, Loann, Férec, Claude, Promwong, Charuporn, Nuchnoi, Pornlada, Fichou, Yann
Published in Transfusion medicine and hemotherapy (01.02.2020)
Published in Transfusion medicine and hemotherapy (01.02.2020)
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Journal Article
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis
Lemoine, Hugo, Raud, Loann, Foulquier, François, Sayer, John A., Lambert, Baptiste, Olinger, Eric, Lefèvre, Siriane, Knebelmann, Bertrand, Harris, Peter C., Trouvé, Pascal, Desprès, Aurore, Duneau, Gabrielle, Matignon, Marie, Poyet, Anais, Jourde-Chiche, Noémie, Guerrot, Dominique, Lemoine, Sandrine, Seret, Guillaume, Barroso-Gil, Miguel, Bingham, Coralie, Gilbert, Rodney, Le Meur, Yannick, Audrézet, Marie-Pierre, Cornec-Le Gall, Emilie
Published in American journal of human genetics (04.08.2022)
Published in American journal of human genetics (04.08.2022)
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Journal Article
Missense RHD SNVs 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.) (2021)
Published in Transfusion (Philadelphia, Pa.) (2021)
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Journal Article
Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes
Le Tertre, Marlène, Ka, Chandran, Raud, Loann, Berlivet, Isabelle, Gourlaouen, Isabelle, Richard, Gaëlle, Uguen, Kévin, Chen, Jian-Min, Férec, Claude, Fichou, Yann, Le Gac, Gérald
Published in Blood cells, molecules, & diseases (01.03.2021)
Published in Blood cells, molecules, & diseases (01.03.2021)
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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
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
Comprehensive Molecular Analysis of Serologically D-Negative and Weak/Partial D Phenotype in Thai Blood Donors
Thongbut, Jairak, Raud, Loann, Férec, Claude, Promwong, Charuporn, Nuchnoi, Pornlada, Fichou, Yann
Published in Transfusion medicine and hemotherapy (10.02.2020)
Published in Transfusion medicine and hemotherapy (10.02.2020)
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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, 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
Altération du mécanisme d’épissage dans l’affaiblissement de l’expression membranaire de l’antigène D
Raud, Loann, Vigneron, Léonie, Ka, Chandran, Gourlaouen, Isabelle, Callebaut, Isabelle, Férec, Claude, Le Gac, Gérald, Fichou, Yann
Published in Transfusion clinique et biologique : journal de la Société française de transfusion sanguine (01.09.2019)
Published in Transfusion clinique et biologique : journal de la Société française de transfusion sanguine (01.09.2019)
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Journal Article
First estimation of the scale of canonical 5' splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications
Jin-Huan, Lin, Xin-Ying, Tang, Boulling, Arnaud, Zou, Wen-Bin, Masson, Emmanuelle, Fichou, Yann, Raud, Loann, Marlene Le Tertre, Shun-Jiang Deng, Berlivet, Isabelle, Chandran Ka, Mort, Matthew, Hayden, Matthew, Gerald Le Gac, Cooper, David N, Zhao-Shen, Li, Ferec, Claude, Liao, Zhuan, Chen, Jian-Min
Published in bioRxiv (27.11.2018)
Published in bioRxiv (27.11.2018)
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