Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Paul Kuentz"'
Autor:
Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frederic Tran Mau-Them, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Julian Delanne, Martin Chevarin, Charlotte Pöe, Julien Thevenon, Daphné Lehalle, Nolween Jean-Marçais, Paul Kuentz, Laetitia Lambert, Salima El Chehadeh, Elise Schaefer, Marjolaine Willems, Fanny Laffargue, Christine Francannet, Mélanie Fradin, Dominique Gaillard, Sophie Blesson, Alice Goldenberg, Yline Capri, Paul Sagot, Thierry Rousseau, Emmanuel Simon, Christine Binquet, Marie-Laure Ascencio, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Antonio Vitobello, Christel Thauvin-Robinet
Publikováno v:
European Journal of Human Genetics. 30:967-975
Prenatal exome sequencing could be complex because of limited phenotypical data compared to postnatal/portmortem phenotype in fetuses affected by multiple congenital abnormalities (MCA). Here, we investigated limits of prenatal phenotype for ES inter
Autor:
Christophe Philippe, Paul Kuentz, Yannis Duffourd, Laurent Guibaud, Pierre Vabres, N. Bourgon, C. Thauvin-Robinet, Virginie Carmignac, Laurence Faivre, Arthur Sorlin
Publikováno v:
Ultrasound in Obstetrics & Gynecology. 59:532-542
To describe clinical and molecular findings in a French multicenter cohort of fetuses with prenatal diagnosis of congenital abnormality and suspicion of a localized overgrowth disorder (LOD) suggestive of genetic variants in the PI3K-AKT-mTOR signali
Autor:
Julian Delanne, Magaly Lecat, Patrick R. Blackburn, Eric W. Klee, Constance T.R.M. Stumpel, Sander Stegmann, Servi J.C. Stevens, Caroline Nava, Delphine Heron, Boris Keren, Sonal Mahida, Sakkubai Naidu, Dusica Babovic-Vuksanovic, Johanna C. Herkert, Pernille M. Torring, Maria Kibæk, Isabelle De Bie, Rolph Pfundt, Yvonne M.C. Hendriks, Lilian Bomme Ousager, Renee Bend, Hannah Warren, Steven A. Skinner, Michael J. Lyons, Charlotte Pöe, Martin Chevarin, Thibaud Jouan, Aurore Garde, Quentin Thomas, Paul Kuentz, Emilie Tisserant, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet
Publikováno v:
European Journal of Medical Genetics, 66(1):104670. Elsevier
Since the first description of a BRWD3-associated nonsydromic intellectual disability (ID) disorder in 2007, 21 additional families have been reported in the literature.Using exome sequencing (ES) and international data sharing, we identified 14 addi
Autor:
Geoffroy Delplancq, Mohamed Abdelatif Boukebir, Daniel Amsallem, Laurent Thines, Virginie Rozé, Eric Dahlen, Lionel Van Maldergem, Paul Kuentz
Publikováno v:
Neuropediatrics. 53:274-278
Potocki–Schaffer syndrome includes multiple exostoses, parietal foramina, and variable developmental delay/intellectual disability. It is associated with a heterozygous deletion of the 11p12p11.2 region. In some cases, the deletion extends to the W
Autor:
Jean-Marie Ravel, Jean-Louis Guéant, Natacha Dreumont, Marc Polivka, Jean-Baptiste Rivière, Frédéric Tran Mau-Them, Julien Thevenon, David Coelho, Gajja S. Salomons, Desirée E.C. Smith, Pauline Mosca, Emmanuelle Schmitt, Laurence Faivre, Gautam Kok, Marisa I. Mendes, Christel Thauvin-Robinet, Sabine A. Fuchs, Paul Kuentz, Arnaud Wiedemann, François Feillet
Publikováno v:
Human Mutation, 42(12), 1576-1583. Wiley-Liss Inc.
Human mutation, 42(12), 1576-1583. Wiley-Liss Inc.
Ravel, J-M, Dreumont, N, Mosca, P, Smith, D E C, Mendes, M I, Wiedemann, A, Coelho, D, Schmitt, E, Rivière, J-B, Tran Mau-Them, F, Thevenon, J, Kuentz, P, Polivka, M, Fuchs, S A, Kok, G, Thauvin-Robinet, C, Guéant, J-L, Salomons, G S, Faivre, L & Feillet, F 2021, ' A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever ', Human Mutation, vol. 42, no. 12, pp. 1576-1583 . https://doi.org/10.1002/humu.24285
Human mutation, 42(12), 1576-1583. Wiley-Liss Inc.
Ravel, J-M, Dreumont, N, Mosca, P, Smith, D E C, Mendes, M I, Wiedemann, A, Coelho, D, Schmitt, E, Rivière, J-B, Tran Mau-Them, F, Thevenon, J, Kuentz, P, Polivka, M, Fuchs, S A, Kok, G, Thauvin-Robinet, C, Guéant, J-L, Salomons, G S, Faivre, L & Feillet, F 2021, ' A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever ', Human Mutation, vol. 42, no. 12, pp. 1576-1583 . https://doi.org/10.1002/humu.24285
Aminoacyl-tRNA synthetases (aaRS) are ubiquitously expressed enzymes responsible for ligating amino acids to their cognate tRNA molecules through an aminoacylation reaction. The resulting aminoacyl-tRNA is delivered to ribosome elongation factors to
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Autor:
Marjolaine Willems, Benjamin Durand, Boris Keren, Kristina Pilekær Sørensen, Rosanna Weksberg, Magalie Barth, Christina Fagerberg, Cyril Mignot, Laurence Perrin, Lucas Bronicki, Nathalie Drouot, Imene Boujelbene, Marc Abramowicz, Maria Kibaek, Bertrand Isidor, Thierry Bienvenu, Mathilde Nizon, Perrine Charles, Laurent Pasquier, Yann Herault, Marie Christine Birling, Bruno Delobel, Michel Guipponi, Lydie Burglen, Mélanie Fradin, Anne Sophie Denommé, Florence Demurger, Benjamin Cogné, Sébastien Moutton, Allan Bayat, Frederic Tran Mau Them, Christèle Dubourg, Alice Goldenberg, Christine Francannet, Jean-Louis Mandel, Laurence Faivre, Jérémie Courraud, Anne Marie Guerrot, Julia Metreau, Loréline Genschik, Bénédicte Demeer, Marie Vincent, Mathilde Renaud, Julien Thevenon, Sandrine Passemard, Christine Coubes, Amélie Piton, David Geneviève, Maria del Mar Muniz Moreno, Bénédicte Gérard, Estelle Colin, Valérie Layet, Michèle Mathieu-Dramard, Salima El Chehadeh, Katrine M Johannesen, Julie D. Thompson, Cathrine Elisabeth Tronhjem, Pascale Saugier, Elise Schaefer, Eric Chater-Diehl, Séverine Drunat, Rikke S. Møller, Paul Kuentz, Claire Feger, Albert David, Antonio Vitobello, Marlène Rio, Khaoula Khachnaoui, Joane Svane, Stéphane Auvin
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩
Courraud, J, Chater-Diehl, E, Durand, B, Vincent, M, del Mar Muniz Moreno, M, Boujelbene, I, Drouot, N, Genschik, L, Schaefer, E, Nizon, M, Gerard, B, Abramowicz, M, Cogné, B, Bronicki, L, Burglen, L, Barth, M, Charles, P, Colin, E, Coubes, C, David, A, Delobel, B, Demurger, F, Passemard, S, Denommé, A S, Faivre, L, Feger, C, Fradin, M, Francannet, C, Genevieve, D, Goldenberg, A, Guerrot, A M, Isidor, B, Johannesen, K M, Keren, B, Kibæk, M, Kuentz, P, Mathieu-Dramard, M, Demeer, B, Metreau, J, Steensbjerre Møller, R, Moutton, S, Pasquier, L, Pilekær Sørensen, K, Perrin, L, Renaud, M, Saugier, P, Rio, M, Svane, J, Thevenon, J, Tran Mau Them, F, Tronhjem, C E, Vitobello, A, Layet, V, Auvin, S, Khachnaoui, K, Birling, M C, Drunat, S, Bayat, A, Dubourg, C, El Chehadeh, S, Fagerberg, C, Mignot, C, Guipponi, M, Bienvenu, T, Herault, Y, Thompson, J, Willems, M, Mandel, J L, Weksberg, R & Piton, A 2021, ' Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder ', Genetics in Medicine, vol. 23, no. 11, pp. 2150-2159 . https://doi.org/10.1038/s41436-021-01263-1
Genetics in Medicine, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩
Genetics in Medicine, Nature Publishing Group, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩
Courraud, J, Chater-Diehl, E, Durand, B, Vincent, M, del Mar Muniz Moreno, M, Boujelbene, I, Drouot, N, Genschik, L, Schaefer, E, Nizon, M, Gerard, B, Abramowicz, M, Cogné, B, Bronicki, L, Burglen, L, Barth, M, Charles, P, Colin, E, Coubes, C, David, A, Delobel, B, Demurger, F, Passemard, S, Denommé, A S, Faivre, L, Feger, C, Fradin, M, Francannet, C, Genevieve, D, Goldenberg, A, Guerrot, A M, Isidor, B, Johannesen, K M, Keren, B, Kibæk, M, Kuentz, P, Mathieu-Dramard, M, Demeer, B, Metreau, J, Steensbjerre Møller, R, Moutton, S, Pasquier, L, Pilekær Sørensen, K, Perrin, L, Renaud, M, Saugier, P, Rio, M, Svane, J, Thevenon, J, Tran Mau Them, F, Tronhjem, C E, Vitobello, A, Layet, V, Auvin, S, Khachnaoui, K, Birling, M C, Drunat, S, Bayat, A, Dubourg, C, El Chehadeh, S, Fagerberg, C, Mignot, C, Guipponi, M, Bienvenu, T, Herault, Y, Thompson, J, Willems, M, Mandel, J L, Weksberg, R & Piton, A 2021, ' Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder ', Genetics in Medicine, vol. 23, no. 11, pp. 2150-2159 . https://doi.org/10.1038/s41436-021-01263-1
Genetics in Medicine, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩
Purpose: DYRK1A syndrome is among the most frequent monogenic forms of intellectual disability (ID). We refined the molecular and clinical description of this disorder and developed tools to improve interpretation of missense variants, which remains
Autor:
Guillaume Jouret, Matthieu Egloff, Emilie Landais, Olivier Tassy, Fabienne Giuliano, Houda Karmous‐Benailly, Charles Coutton, Véronique Satre, Françoise Devillard, Klaus Dieterich, Gaëlle Vieville, Paul Kuentz, Cédric le Caignec, Claire Beneteau, Bertrand Isidor, Mathilde Nizon, Patrick Callier, Valentine Marquet, Eric Bieth, Jonathan Lévy, Anne‐Claude Tabet, Stanislas Lyonnet, Geneviève Baujat, Marlène Rio, François Cartault, Sophie Scheidecker, Aurélie Gouronc, Audrey Schalk, Clémence Jacquin, Marta Spodenkiewicz, Chloé Angélini, Perrine Pennamen, Caroline Rooryck, Martine Doco‐Fenzy, Céline Poirsier
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 191(1)
A small but growing body of scientific literature is emerging about clinical findings in patients with 19p13.3 microdeletion or duplication. Recently, a proximal 19p13.3 microduplication syndrome was described, associated with growth delay, microceph
Autor:
Laurence Cuisset, Stéphane Bézieau, Flora Breheret, Christel Thauvin-Robinet, Paul Kuentz, Benjamin Cogné, Gaëlle Landeau-Trottier, Boris Keren, Eva Trochu, Leila Ghesh, Mathilde Nizon, Christine Coubes, Thomas Besnard, Cyril Mignot, Ange-Line Bruel
Publikováno v:
Human Mutation. 42:498-505
ARHGEF9 defects lead to an X-linked intellectual disability disorder related to inhibitory synaptic dysfunction. This condition is more frequent in males, with a few affected females reported. Up to now, sequence variants and gross deletions have bee
Autor:
Céline Capron, Louis Januel, Gaëlle Vieville, Sylvie Jaillard, Paul Kuentz, Gaëlle Salaun, Gwenaël Nadeau, Patrice Clement, Marie Pierre Brechard, Bérénice Herve, Jean Michel Dupont, Nicolas Gruchy, Pascal Chambon, Fatma Abdelhedi, Eric Dahlen, Philippe Vago, Radu Harbuz, Ingrid Plotton, Charles Coutton, Marc‐Antoine Belaud‐Rotureau, Caroline Schluth‐Bolard, François Vialard
Publikováno v:
Andrology
Andrology, 2022, 10 (8), pp. 1625-1631. ⟨10.1111/andr.13279⟩
Andrology, 2022, 10 (8), pp. 1625-1631. ⟨10.1111/andr.13279⟩
International audience; The translocation of SRY onto one of the two X chromosomes results in a 46,XX testicular disorder of sex development; this is supposedly due to non-allelic homologous recombination between the protein kinase X gene (PRKX) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e3955e1a3d8d8d541af1211341a5b49
https://hal.inrae.fr/hal-03768973/document
https://hal.inrae.fr/hal-03768973/document
Autor:
Emilie Tisserant, Antonio Vitobello, Davide Callegarin, Simon Verdez, Ange‐line Bruel, Ludwig Serge Aho Glele, Arthur Sorlin, Eleonore Viora‐Dupont, Marina Konyukh, Nathalie Marle, Sophie Nambot, Sébastien Moutton, Caroline Racine, Aurore Garde, Julian Delanne, Frédéric Tran‐Mau‐Them, Christophe Philippe, Paul Kuentz, Marlène Poulleau, Muriel Payet, Charlotte Poe, Christel Thauvin‐Robinet, Laurence Faivre, Anne‐Laure Mosca‐Boidron, Julien Thevenon, Yannis Duffourd, Patrick Callier
Publikováno v:
Annals of human geneticsREFERENCES. 86(4)
It has been estimated that Copy Number Variants (CNVs) account for 10%-20% of patients affected by Developmental Disorder (DD)/Intellectual Disability (ID). Although array comparative genomic hybridization (array-CGH) represents the gold-standard for