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131 results on '"Audrezet, Marie-Pierre"'

1. Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease

Author

Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Schönauer, Ria, Sierks, Dana, Boerrigter, Melissa, Jawaid, Tabinda, Caroff, Lea, Audrezet, Marie-Pierre, Friedrich, Anja, Shaw, Melissa, Degenhardt, Jan, Forberger, Mirjam, de Fallois, Jonathan, Bläker, Hendrik, Bergmann, Carsten, Gödiker, Juliana, Schindler, Philipp, Schlevogt, Bernhard, Müller, Roman-U., Berg, Thomas, Patterson, Ilse, Griffiths, William J., Sayer, John A., Popp, Bernt, Torres, Vicente E., Hogan, Marie C., Somlo, Stefan, Watnick, Terry J., Nevens, Frederik, Besse, Whitney, Cornec-Le Gall, Emilie, Harris, Peter C., Drenth, Joost P.H., and Halbritter, Jan

Published
2024
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3. #2613 Clinical spectrum and prognosis of the atypical polycystic kidney disease caused by monoallelic loss-of-function IFT140 variants

Author

Zagorec, Nikola, primary, Calamel, Alizée, additional, Ars, Elisabet, additional, Ong, Albert, additional, Halbritter, Jan, additional, Audrezet, Marie-Pierre, additional, Pillay, Vignesh-Guru, additional, Meur, Yannick Le, additional, Sayer, John, additional, Group, Genkyst Study, additional, and Gall, Emilie Cornec-Le, additional

Published
2024
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4. Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease

Author

Schönauer, Ria, primary, Sierks, Dana, additional, Boerrigter, Melissa, additional, Jawaid, Tabinda, additional, Caroff, Lea, additional, Audrezet, Marie-Pierre, additional, Friedrich, Anja, additional, Shaw, Melissa, additional, Degenhardt, Jan, additional, Forberger, Mirjam, additional, de Fallois, Jonathan, additional, Bläker, Hendrik, additional, Bergmann, Carsten, additional, Gödiker, Juliana, additional, Schindler, Philipp, additional, Schlevogt, Bernhard, additional, Müller, Roman-U., additional, Berg, Thomas, additional, Patterson, Ilse, additional, Griffiths, William J., additional, Sayer, John A., additional, Ambrose, John C., additional, Arumugam, Prabhu, additional, Bevers, Roel, additional, Bleda, Marta, additional, Boardman-Pretty, Freya, additional, Boustred, Christopher R., additional, Brittain, Helen, additional, Caulfield, Mark J., additional, Chan, Georgia C., additional, Elgar, Greg, additional, Fowler, Tom, additional, Giess, Adam, additional, Hamblin, Angela, additional, Henderson, Shirley, additional, Hubbard, Tim J.P., additional, Jackson, Rob, additional, Jones, Louise J., additional, Kasperaviciute, Dalia, additional, Kayikci, Melis, additional, Kousathanas, Athanasios, additional, Lahnstein, Lea, additional, Leigh, Sarah E.A., additional, Leong, Ivonne U.S., additional, Lopez, Javier F., additional, Maleady-Crowe, Fiona, additional, McEntagart, Meriel, additional, Minneci, Federico, additional, Moutsianas, Loukas, additional, Mueller, Michael, additional, Murugaesu, Nirupa, additional, Need, Anna C., additional, O’Donovan, Peter, additional, Odhams, Chris A., additional, Patch, Christine, additional, Pereira, Mariana Buongermino, additional, Perez-Gil, Daniel, additional, Pullinger, John, additional, Rahim, Tahrima, additional, Rendon, Augusto, additional, Rogers, Tim, additional, Savage, Kevin, additional, Sawant, Kushmita, additional, Scott, Richard H., additional, Siddiq, Afshan, additional, Sieghart, Alexander, additional, Smith, Samuel C., additional, Sosinsky, Alona, additional, Stuckey, Alexander, additional, Tanguy, Mélanie, additional, Taylor Tavares, Ana Lisa, additional, Thomas, Ellen R.A., additional, Thompson, Simon R., additional, Tucci, Arianna, additional, Welland, Matthew J., additional, Williams, Eleanor, additional, Witkowska, Katarzyna, additional, Wood, Suzanne M., additional, Popp, Bernt, additional, Torres, Vicente E., additional, Hogan, Marie C., additional, Somlo, Stefan, additional, Watnick, Terry J., additional, Nevens, Frederik, additional, Besse, Whitney, additional, Cornec-Le Gall, Emilie, additional, Harris, Peter C., additional, Drenth, Joost P.H., additional, and Halbritter, Jan, additional

Published
2024
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5. Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis

Author

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, and Cornec-Le Gall, Emilie

Published
2022
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7. Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease

Author

Huynh, Vinh T., Audrézet, Marie-Pierre, Sayer, John A., Ong, Albert C., Lefevre, Siriane, Le Brun, Valoris, Després, Aurore, Senum, Sarah R., Chebib, Fouad T., Barroso-Gil, Miguel, Patel, Chirag, Mallett, Andrew J., Goel, Himanshu, Mallawaarachchi, Amali C., Van Eerde, Albertien M., Ponlot, Eléonore, Kribs, Marc, Le Meur, Yannick, Harris, Peter C., and Cornec-Le Gall, Emilie

Published
2020
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12. CFTR‐France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants

Author

Claustres, Mireille, Thèze, Corinne, des Georges, Marie, Baux, David, Girodon, Emmanuelle, Bienvenu, Thierry, Audrezet, Marie‐Pierre, Dugueperoux, Ingrid, Férec, Claude, Lalau, Guy, Pagin, Adrien, Kitzis, Alain, Thoreau, Vincent, Gaston, Véronique, Bieth, Eric, Malinge, Marie‐Claire, Reboul, Marie‐Pierre, Fergelot, Patricia, Lemonnier, Lydie, Mekki, Chadia, Fanen, Pascale, Bergougnoux, Anne, Sasorith, Souphatta, Raynal, Caroline, and Bareil, Corinne

Published
2017
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13. Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases

Author

Jordan, Penelope, primary, Dorval, Guillaume, additional, Arrondel, Christelle, additional, Morinière, Vincent, additional, Tournant, Carole, additional, Audrezet, Marie‐Pierre, additional, Michel‐Calemard, Laurence, additional, Putoux, Audrey, additional, Lesca, Gaethan, additional, Labalme, Audrey, additional, Whalen, Sandra, additional, Loeuillet, Laurence, additional, Martinovic, Jelena, additional, Attie‐Bitach, Tania, additional, Bessières, Bettina, additional, Schaefer, Elise, additional, Scheidecker, Sophie, additional, Lambert, Laetitia, additional, Beneteau, Claire, additional, Patat, Olivier, additional, Boute‐Benejean, Odile, additional, Molin, Arnaud, additional, Guimiot, Fabien, additional, Fontanarosa, Nicolas, additional, Nizon, Mathilde, additional, Lefebvre, Mathilde, additional, Jeanpierre, Cécile, additional, Saunier, Sophie, additional, and Heidet, Laurence, additional

Published
2022
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14. Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin

Author

Mekahli, Djalila, Decuypere, Jean-Paul, Sammels, Eva, Welkenhuyzen, Kirsten, Schoeber, Joost, Audrezet, Marie-Pierre, Corvelyn, Anniek, Dechênes, Georges, Ong, Albert C. M., Wilmer, Martijn J., van den Heuvel, Lambertus, Bultynck, Geert, Parys, Jan B., Missiaen, Ludwig, Levtchenko, Elena, and De Smedt, Humbert

Published
2014
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20. GENOTYPE-PHENOTYPE CORRELATION IN A PEDIATRIC ADPKD COHORT

Author

Giel, Dorien, Rechter, Stephanie, Breysem, Luc, Hindryckx, An, Janssens, Peter, Decuypere, Jean-Paul, Bammens, Bert, Corveleyn, Anniek, Ferec, Claude, Rudi Vennekens, Audrezet, Marie-Pierre, Harris, Peter, Mekahli, Djalila, Clinical sciences, Faculty of Medicine and Pharmacy, Internal Medicine Specializations, and Nephrology

Subjects
pediatric, Genotype, phebotype, ADPKD
Published
2020

21. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018)

Author

Leman, Raphael, Gaildrat, Pascaline, Le Gac, Gerald, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M., Boutry-Kryza, Nadia, Leone, Melanie, Mazoyer, Sylvie, Bonnet-Dorion, Francoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Francoise, Parsons, Michael T., Rousselin, Antoine, Davy, Gregoire, Castelain, Gaia, Castera, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Ferec, Claude, Spurdle, Amanda B., Martins, Alexandra, Krieger, Sophie, Houdayer, Claude, Leman, Raphael, Gaildrat, Pascaline, Le Gac, Gerald, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M., Boutry-Kryza, Nadia, Leone, Melanie, Mazoyer, Sylvie, Bonnet-Dorion, Francoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Francoise, Parsons, Michael T., Rousselin, Antoine, Davy, Gregoire, Castelain, Gaia, Castera, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Ferec, Claude, Spurdle, Amanda B., Martins, Alexandra, Krieger, Sophie, and Houdayer, Claude

Published
2020

24. Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the www.hgvs.org vas deferens

Author

Steiner, Bernhard, Rosendahl, Jonas, Witt, Heiko, Teich, Niels, Keim, Volker, Schulz, Hans-Ulrich, Pfützer, Roland, Lühr, Matthias, Gress, Thomas M., Nickel, Renate, Landt, Olfert, Koudova, Monika, Macek, Milan, Jr, Farre, Antoni, Casals, Teresa, Desax, Marie-Claire, Gallati, Sabina, Gomez-Lira, Macarena, Audrezet, Marie Pierre, Férec, Claude, des Georges, Marie, Claustres, Mireille, and Truninger, Kaspar

Published
2011
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25. P1799GENOTYPE-PHENOTYPE CORRELATION IN A PEDIATRIC ADPKD COHORT

Author

Van Giel, Dorien, primary, De Rechter, Stéphanie, primary, Breysem, Luc, primary, Hindryckx, An, primary, Janssens, Peter, primary, Decuypere, Jean-Paul, primary, Bammens, Bert, primary, Corveleyn, Anniek, primary, Férec, Claude, primary, Vennekens, Rudi, primary, Audrezet, Marie-Pierre, primary, Harris, Peter, primary, and Mekahli, Djalila, primary

Published
2020
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26. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Author

Leman, Raphaël, primary, Gaildrat, Pascaline, primary, Le Gac, Gérald, primary, Ka, Chandran, primary, Fichou, Yann, primary, Audrezet, Marie-Pierre, primary, Caux-Moncoutier, Virginie, primary, Caputo, Sandrine M, primary, Boutry-Kryza, Nadia, primary, Léone, Mélanie, primary, Mazoyer, Sylvie, primary, Bonnet-Dorion, Françoise, primary, Sevenet, Nicolas, primary, Guillaud-Bataille, Marine, primary, Rouleau, Etienne, primary, Bressac-de Paillerets, Brigitte, primary, Wappenschmidt, Barbara, primary, Rossing, Maria, primary, Muller, Danielle, primary, Bourdon, Violaine, primary, Revillon, Françoise, primary, Parsons, Michael T, primary, Rousselin, Antoine, primary, Davy, Grégoire, primary, Castelain, Gaia, primary, Castéra, Laurent, primary, Sokolowska, Joanna, primary, Coulet, Florence, primary, Delnatte, Capucine, primary, Férec, Claude, primary, Spurdle, Amanda B, primary, Martins, Alexandra, primary, Krieger, Sophie, primary, and Houdayer, Claude, primary

Published
2019
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29. Analysis of genomic CFTR DNA

Author

Férec, Claude, Le Maréchal, Cédric, Audrézet, Marie-Pierre, Farinha, Carlos M., Amaral, Margarida D., Gallati, Sabina, Sanz, Javier, Steiner, Bernhard, Mouchel, Nathalie, Harris, Ann, and Schwarz, Martin J.

Published
2004
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32. Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Author

Moradkhani, Kamran, primary, Cuisset, Laurence, additional, Boisseau, Pierre, additional, Pichon, Olivier, additional, Lebrun, Marine, additional, Hamdi‐Rozé, Houda, additional, Maurin, Marie‐Laure, additional, Gruchy, Nicolas, additional, Manca‐Pellissier, Marie‐Christine, additional, Malzac, Perrine, additional, Bilan, Frédéric, additional, Audrezet, Marie‐Pierre, additional, Saugier‐Veber, Pascale, additional, Fauret‐Amsellem, Anne‐Laure, additional, Missirian, Chantal, additional, Kuentz, Paul, additional, Egea, Gregory, additional, Guichet, Agnès, additional, Creveaux, Isabelle, additional, Janel, Caroline, additional, Harzallah, Ines, additional, Touraine, Renaud, additional, Goumy, Carole, additional, Joyé, Nicole, additional, Puechberty, Jacques, additional, Haquet, Emmanuelle, additional, Chantot‐Bastaraud, Sandra, additional, Schmitt, Sébastien, additional, Gosset, Philippe, additional, Duban‐Bedu, Bénédicte, additional, Delobel, Bruno, additional, Vago, Philippe, additional, Vialard, François, additional, Gomes, Denise Molina, additional, Siffroi, Jean‐Pierre, additional, Bonnefont, Jean‐Paul, additional, Dupont, Jean‐Michel, additional, Jonveaux, Philippe, additional, Doco‐Fenzy, Martine, additional, Sanlaville, Damien, additional, and Le Caignec, Cédric, additional

Published
2019
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33. Combined Consideration of Sex, Genotype, and Total Liver Volume Progression Determines the Risk of Hospitalization in an International Multicenter Cohort of Autosomal Dominant Polycystic Liver Disease

Author

Sierks, Dana, Schönauer, Ria A., Boerrigter, Melissa M., Jawaid, Tabinda, Audrezet, Marie-Pierre, Caroff, Léa, Degenhardt, Jan C., de Fallois, Jonathan, Schlevogt, Bernhard, Berg, Thomas, Nevens, Frederik, Watnick, Terry J., Sayer, John A., Besse, Whitney, Gall, Emilie Cornec-Le, Harris, Peter C., Drenth, Joost P., and Halbritter, Jan

Published
2023
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34. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Author

Leman, Raphael, Gaildrat, Pascaline, Gac, Gerald L., Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M., Boutry-Kryza, Nadia, Leone, Melanie, Mazoyer, Sylvie, Bonnet-Dorion, Francoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Francoise, Parsons, Michael T., Rousselin, Antoine, Davy, Gregoire, Castelain, Gaia, Castera, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Ferec, Claude, Spurdle, Amanda B., Martins, Alexandra, Krieger, Sophie, Houdayer, Claude, Leman, Raphael, Gaildrat, Pascaline, Gac, Gerald L., Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M., Boutry-Kryza, Nadia, Leone, Melanie, Mazoyer, Sylvie, Bonnet-Dorion, Francoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Francoise, Parsons, Michael T., Rousselin, Antoine, Davy, Gregoire, Castelain, Gaia, Castera, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Ferec, Claude, Spurdle, Amanda B., Martins, Alexandra, Krieger, Sophie, and Houdayer, Claude

Abstract

Variant interpretation is the key issue in molecular diagnosis. Spliceogenic variants exemplify this issue as each nucleotide variant can be deleterious via disruption or creation of splice site consensus sequences. Consequently, reliable in silico prediction of variant spliceogenicity would be a major improvement. Thanks to an international effort, a set of 395 variants studied at the mRNA level and occurring in 5' and 3' consensus regions (defined as the 11 and 14 bases surrounding the exon/intron junction, respectively) was collected for 11 different genes, including BRCA1, BRCA2, CFTR and RHD, and used to train and validate a new prediction protocol named Splicing Prediction in Consensus Elements (SPiCE). SPiCE combines in silico predictions fromSpliceSiteFinder-like and MaxEntScan and uses logistic regression to define optimal decision thresholds. It revealed an unprecedented sensitivity and specificity of 99.5 and 95.2%, respectively, and the impact on splicing was correctly predicted for 98.8% of variants. We therefore propose SPiCE as the new tool for predicting variant spliceogenicity. It could be easily implemented in any diagnostic laboratory as a routine decision making tool to help geneticists to face the deluge of variants in the next-generation sequencing era. SPiCE is accessible at (https://sourceforge.net/projects/spicev2-1/).

Published
2018

35. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018)

Author

Leman, Raphael, Gaildrat, Pascaline, Gac, Gerald L., Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M., Boutry-Kryza, Nadia, Leone, Melanie, Mazoyer, Sylvie, Bonnet-Dorion, Francoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Francoise, Parsons, Michael T., Rousselin, Antoine, Davy, Gregoire, Castelain, Gaia, Castera, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Ferec, Claude, Spurdle, Amanda B., Martins, Alexandra, Krieger, Sophie, Houdayer, Claude, Leman, Raphael, Gaildrat, Pascaline, Gac, Gerald L., Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M., Boutry-Kryza, Nadia, Leone, Melanie, Mazoyer, Sylvie, Bonnet-Dorion, Francoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Francoise, Parsons, Michael T., Rousselin, Antoine, Davy, Gregoire, Castelain, Gaia, Castera, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Ferec, Claude, Spurdle, Amanda B., Martins, Alexandra, Krieger, Sophie, and Houdayer, Claude

Published
2018

37. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Author

Leman, Raphaël, primary, Gaildrat, Pascaline, additional, Gac, Gérald L, additional, Ka, Chandran, additional, Fichou, Yann, additional, Audrezet, Marie-Pierre, additional, Caux-Moncoutier, Virginie, additional, Caputo, Sandrine M, additional, Boutry-Kryza, Nadia, additional, Léone, Mélanie, additional, Mazoyer, Sylvie, additional, Bonnet-Dorion, Françoise, additional, Sevenet, Nicolas, additional, Guillaud-Bataille, Marine, additional, Rouleau, Etienne, additional, Paillerets, Brigitte Bressac-de, additional, Wappenschmidt, Barbara, additional, Rossing, Maria, additional, Muller, Danielle, additional, Bourdon, Violaine, additional, Revillon, Françoise, additional, Parsons, Michael T, additional, Rousselin, Antoine, additional, Davy, Grégoire, additional, Castelain, Gaia, additional, Castéra, Laurent, additional, Sokolowska, Joanna, additional, Coulet, Florence, additional, Delnatte, Capucine, additional, Férec, Claude, additional, Spurdle, Amanda B, additional, Martins, Alexandra, additional, Krieger, Sophie, additional, and Houdayer, Claude, additional

Published
2018
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38. Large phenotypic spectrum associated with two new deep intronic variants on the CFTR gene

Author

Bergougnoux, Anne, primary, Deletang, Karine, additional, Varilh, Jessica, additional, Houriez, Florence, additional, Altieri, Jean-Pierre, additional, Koenig, Michel, additional, Férec, Claude, additional, Mireille, Claustres, additional, Bienvenu, Thierry, additional, Audrezet, Marie-Pierre, additional, Pagin, Adrien, additional, Girodon, Emmanuelle, additional, Raynal, Caroline, additional, and Taulan-Cadars, Magali, additional

Published
2018
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39. The expanded French compassionate programme for elexacaftor–tezacaftor–ivacaftor use in people with cystic fibrosis without a F508del CFTRvariant: a real-world study

Author

Burgel, Pierre-Régis, Sermet-Gaudelus, Isabelle, Girodon, Emmanuelle, Durieu, Isabelle, Houdouin, Véronique, Audousset, Camille, Macey, Julie, Grenet, Dominique, Porzio, Michele, Murris-Espin, Marlène, Reix, Philippe, Baravalle, Mélisande, Belleguic, Chantal, Mely, Laurent, Verhille, Juliette, Weiss, Laurence, Reynaud-Gaubert, Martine, Mittaine, Marie, Hamidfar, Rebecca, Ramel, Sophie, Cosson, Laure, Douvry, Benoit, Danner-Boucher, Isabelle, Foucaud, Pierre, Roy, Charlotte, Burnet, Espérie, Raynal, Caroline, Audrezet, Marie-Pierre, Da Silva, Jennifer, Martin, Clémence, Kanaan, Reem, Carlier, Nicolas, Honoré, Isabelle, Chedevergne, Frédérique, Dreano, Elise, Hatton, Aurélie, Hinzpeter, Alexandre, Pranke, Iwona, Le Clainche-Viala, Laurence, Mayer, Sophie, Corvol, Harriet, Thouvenin, Guillaume, de Miranda, Sandra, Remus, Natascha, Douvry, Benoit, Duthoit, Louise, Perez, Thierry, Le Rouzic, Olivier, Wizla, Nathalie, Bon, Claire, Bui, Stéphanie, Poey, Nora, Stremler, Nathalie, Coltey, Bérengère, Dufeu, Nadine, Lebihan, Jean, Gabsi, Asma, Pouradier, Delphine, Andrejak, Claire, Rames, Cinthia, Dupuy-Grasset, Magali, Languepin, Jeanne, Marguet, Christophe, Pramil, Stéphanie, Arnouat, Baptiste, Fanton, Annlyse, Abely, Michel, Ravoninjatovo, Bruno, Blondé, Aurore, Guillaumot, Anne, Kieffer, Sebastien, Tatopoulos, Aurélie, Nove-Josserand, Raphaële, Ohlmann, Camille, Perrin, Thomas, Reynaud, Quitterie, Llerena, Catherine, Quétant, Sébastien, Valois, Sophie, Dalphin, Marie-Laure, Richaud-Thiriez, Bénédicte, Deneuville, Eric, Chiron, Raphael, Socchi, Floriane, Bihouée, Tiphaine, Mankikian, Julie, Flament, Thomas, Coolen-Allou, Nathalie, Gachelin, Elsa, Périsson, Caroline, Vuillard, Constance, Dupuis, Marion, Alkoussa, Wael, Marchal, Sarah, Leroy, Sylvie, Scalbert, Manuela, Campbell, Karine, Laurans, Muriel, Labbé, Guillaume, Montcouquiol, Sylvie, Priou, Pascaline, de Carli, Paola, Lemonnier, Lydie, Dehillotte, Clémence, and Nouvel, Thierry

Abstract

Elexacaftor–tezacaftor–ivacaftor has been approved in Europe for people with cystic fibrosis with at least one F508del CFTRvariant. Additionally, it is approved by the US Food and Drug Administration (FDA) for people with cystic fibrosis with at least one of 177 rare variants. The aims of this study were to describe the clinical response to elexacaftor–tezacaftor–ivacaftor for people with cystic fibrosis without a F508del CFTRvariant in France and to determine CFTRvariant responsiveness to elexacaftor–tezacaftor–ivacaftor based on the observed clinical response.

Published
2024
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40. Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis

Author

Scotet, Virginie, de Braekeleer, Marc, Roussey, Michel, Rault, Gilles, Parent, Philippe, Dagorne, Michel, Journel, Hubert, Lemoigne, Auguste, Codet, Jean-Pierre, Catheline, Michel, David, Veronique, Chaventre, Andre, Dugueperoux, Ingrid, Verlingue, Claudine, Quere, Isabelle, Mercier, Bernard, Audrezet, Marie-Pierre, and Ferec, Claude

Subjects
Medical screening -- France, Infants (Newborn) -- Medical examination, Cystic fibrosis -- Diagnosis
Published
2000

42. Small-scale high-throughput sequencing–based identification of new therapeutic tools in cystic fibrosis

Author

Bonini, Jennifer, primary, Varilh, Jessica, additional, Raynal, Caroline, additional, Thèze, Corinne, additional, Beyne, Emmanuelle, additional, Audrezet, Marie-Pierre, additional, Ferec, Claude, additional, Bienvenu, Thierry, additional, Girodon, Emmanuelle, additional, Tuffery-Giraud, Sylvie, additional, Des Georges, Marie, additional, Claustres, Mireille, additional, and Taulan-Cadars, Magali, additional

Published
2015
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44. Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin

Author

Mekahli, Djalila, primary, Decuypere, Jean-Paul, additional, Sammels, Eva, additional, Welkenhuyzen, Kirsten, additional, Schoeber, Joost, additional, Audrezet, Marie-Pierre, additional, Corvelyn, Anniek, additional, Dechênes, Georges, additional, Ong, Albert C. M., additional, Wilmer, Martijn J., additional, van den Heuvel, Lambertus, additional, Bultynck, Geert, additional, Parys, Jan B., additional, Missiaen, Ludwig, additional, Levtchenko, Elena, additional, and De Smedt, Humbert, additional

Published
2013
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45. Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens

Author

Steiner, Bernhard, primary, Rosendahl, Jonas, additional, Witt, Heiko, additional, Teich, Niels, additional, Keim, Volker, additional, Schulz, Hans-Ulrich, additional, Pfützer, Roland, additional, Löhr, Matthias, additional, Gress, Thomas M., additional, Nickel, Renate, additional, Landt, Olfert, additional, Koudova, Monika, additional, Macek Jr, Milan, additional, Farre, Antoni, additional, Casals, Teresa, additional, Desax, Marie-Claire, additional, Gallati, Sabina, additional, Gomez-Lira, Macarena, additional, Audrezet, Marie Pierre, additional, Férec, Claude, additional, des Georges, Marie, additional, Claustres, Mireille, additional, and Truninger, Kaspar, additional

Published
2012
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46. Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens

Author

Steiner, Bernhard, primary, Rosendahl, Jonas, additional, Witt, Heiko, additional, Teich, Niels, additional, Keim, Volker, additional, Schulz, Hans‐Ulrich, additional, Pfützer, Roland, additional, Lühr, Matthias, additional, Gress, Thomas M., additional, Nickel, Renate, additional, Landt, Olfert, additional, Koudova, Monika, additional, Macek, Milan, additional, Farre, Antoni, additional, Casals, Teresa, additional, Desax, Marie‐Claire, additional, Gallati, Sabina, additional, Gomez‐Lira, Macarena, additional, Audrezet, Marie Pierre, additional, Férec, Claude, additional, des Georges, Marie, additional, Claustres, Mireille, additional, and Truninger, Kaspar, additional

Published
2011
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48. Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?

Author

Scotet, Virginie, Audrezet, Marie-Pierre, Roussey, Michel, Rault, Gilles, Dirou-Prigent, Anne, Journel, Hubert, Moisan-Petit, Valerie, Storni, Veronique, and Ferec, Claude

Subjects
Cystic fibrosis -- Diagnosis, Cystic fibrosis -- Genetic aspects, Cystic fibrosis -- Drug therapy, Infants (Newborn) -- Health aspects, Infants (Newborn) -- Medical examination, Infants (Newborn) -- Usage
Abstract

BACKGROUND. Cystic fibrosis newborn screening is now implemented universally in France, as well as in many states in the United States and in various areas of Europe and Australia. Because the screening protocol usually includes the analysis of the most common CFTR mutations, it is of the utmost importance that only mutations that result in classical cystic fibrosis are included in this test. The panels of mutations used in most cystic fibrosis newborn screening programs enable the detection of a relatively frequent CFTR variant (R117H) whose implication in cystic fibrosis remains unclear. Physicians, therefore, have difficulty managing detected compound heterozygotes with this variant, which raises the issue of the appropriateness of extended testing in families and of the legitimate use of prenatal diagnosis. OBJECTIVE. The aim of this study was to describe the clinical outcome of the children found to be compound heterozygous for R117H by screening in Brittany (western France), where cystic fibrosis newborn screening was set up in 1989, and to assess whether this CFTR variant should be included in the newborn screening mutation panels. METHODS. Data on clinical status were obtained by the referring pediatricians. RESULTS. Since our screening protocol has enabled detection of R117H (ie, in 1995), 360 466 newborns have been screened for cystic fibrosis in Brittany, of whom 124 had elevated immunoreactive trypsin and 2 mutations in the CFTR gene. Nine of these children (7.3%) were compound heterozygous for R117H, which in all cases was linked to the 7T_11TG haplotype [IVS8-nT variant/m(TG) repeat]. Their genotypes were F508del/ R117H (n = 7), I507del/R117H (n = 1), or G551D/ R117H (n = 1). At the time of this writing, the mean age of these 9 children was 7.0 years (the oldest being >10 years of age), and none of them had yet developed any signs of cystic fibrosis; they have been pancreatic sufficient and have had good nutritional status and pulmonary function. Moreover, we observed that, in Brittany, all the patients carrying the R117H variant have been identified exclusively through cystic fibrosis newborn screening. CONCLUSIONS. In view of the high frequency of R117H-7T identified by cystic fibrosis newborn screening, the uncertain outcome of the asymptomatic children, and physicians' difficulty in managing these situations, we propose the withdrawal of the R117H variant from the panels of CFTR mutations used in cystic fibrosis newborn screening, given the expanding implementation of cystic fibrosis newborn screening. KEY WORDS. cystic fibrosis, newborn screening, R117H, genetic counseling, Brittany., URL: www.pediatrics.org/cgi/doi/10.1542/peds.2005-3161 Virginie Scotet, PhD, Marie-Pierre Audrezet, PhD, Michel Roussey, MD, PhD, Gilles Rault, MD, Anne Dirou-Prigent, MD, Hubert Journel, MD, Valerie Moisan-Petit, MD, Veronique Storni, MD, Claude Ferec, MD, [...]

Published
2006

50. CFTR genotypes in patients with normal or borderline sweat chloride levels

Author

Feldmann, Delphine, primary, Couderc, Remy, additional, Audrezet, Marie-Pierre, additional, Ferec, Claude, additional, Bienvenu, Thierry, additional, Desgeorges, Marie, additional, Claustres, Mireille, additional, Mittre, Herv�, additional, Blayau, Martine, additional, Bozon, Dominique, additional, Malinge, Marie-Claire, additional, Monnier, Nicole, additional, Bonnefont, Jean-Paul, additional, Iron, Albert, additional, Bieth, Eric, additional, Dumur, Viviane, additional, Clavel, Christine, additional, Cazeneuve, C�cile, additional, and Girodon, Emmanuelle, additional

Published
2003
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