Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Paul Kuentz"'
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:
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:
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:
Geoffroy Delplancq, Alexandre Vasiljevic, Antonio Vitobello, Jean Christophe Eicher, Gilles Millat, Paul Kuentz, Christophe Philippe, Georges Tarris, Martin Chevarin, Yannis Duffourd, Fara T. Harizay, Virginie Carmignac, Christel Thauvin-Robinet, Sophie Nambot, Arthur Sorlin, Laurence Faivre, Thierry Rousseau, Charlotte Denis, Bouchra Khallouk, Sylvie Falcon-Eicher
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:129-135
PRDM16 (positive regulatory domain 16) is localized in the critical region for cardiomyopathy in patients with deletions of chromosome 1p36, as defined by Gajecka et al., American Journal of Medical Genetics, 2010, 152A, 3074-3083, and encodes a zinc
Autor:
Christophe Ferrand, Eric Dahlen, Marie-Agnès Collonge-Rame, Paul Kuentz, Florian Renosi, Sinziana I. Sarghi
Publikováno v:
Cytogenetic and Genome Research. 160:18-21
Multiple isodicentric Y chromosomes [idic(Y)] is a rare cytogenetic abnormality, most exclusively described in constitutional karyotypes. Only recently has this entity been reported in hematologic neoplasms such as myeloid disorders, albeit these cas
Autor:
Yannis Duffourd, Catherine Sarret, B. Catteau, Rachel G. Knox, Chloé Quélin, Cyril Mignot, Martin Chevarin, P. Callier, Diana Rodriguez, Alexis Arzimanoglou, Robert Olaso, David Geneviève, Arthur Sorlin, Sylvie Odent, Christel Thauvin, Victoria E. R. Parker, Pierre Vabres, Louise Goujon, Malika Keddar, Melissa Riachi, Sylvie Fraitag, Laurence Faivre, Emmanuelle Blanchard, Satyamaanasa Polubothu, Marie-Line Jacquemont, Jean-Baptiste Rivière, Anne Boland, Jean-François Deleuze, Paul Rollier, Véronique Darmency, Marie-Hélène Aubriot-Lorton, Yline Capri, V. Carmignac, Daniel Amram, Catherine Vincent-Delorme, Paul Kuentz, Marc Delepine, Didier Bessis, Robert K. Semple, Sarah Grotto, Veronica A. Kinsler, Laurent Guibaud, Christophe Philippe, Jean-Benoît Courcet
Publikováno v:
Carmignac, V, Mignot, C, Blanchard, E, Kuentz, P, Aubriot-Lorton, M-H, Parker, V E R, Sorlin, A, Fraitag, S, Courcet, J-B, Duffourd, Y, Rodriguez, D, Knox, R G, Polubothu, S, Boland, A, Olaso, R, Delepine, M, Darmency, V, Riachi, M, Quelin, C, Rollier, P, Goujon, L, Grotto, S, Capri, Y, Jacquemont, M-L, Odent, S, Amram, D, Chevarin, M, Vincent-Delorme, C, Catteau, B, Guibaud, L, Arzimanoglou, A, Keddar, M, Sarret, C, Callier, P, Bessis, D, Geneviève, D, Deleuze, J-F, Thauvin, C, Semple, R K, Philippe, C, Rivière, J-B, Kinsler, V A, Faivre, L & Vabres, P 2021, ' Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01161-6
Genetics in Medicine
Genet Med
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Genetics in Medicine
Genet Med
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary skin phenotype and clinical spectrum of neurodevelopmental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56e9636f25224977f95394e626ab0731
https://www.repository.cam.ac.uk/handle/1810/326616
https://www.repository.cam.ac.uk/handle/1810/326616
Autor:
Jessica Assoumani, Morgane Plutino, Caroline Benech, Nathalie Marle, Houda Karmous-Benailly, Elise Boudry Labis, Sylvia Redon, Lionel Van Maldergem, Hala Nasser, Nathalie Couque, Myriam Rachid, Anne-Claude Tabet, Bérénice Schell, Aafke Engwerda, Mélanie Rama, Odile Boute, Céline Dupont, Conny M. A. van Ravenswaaij-Arts, Patrick Callier, Lyse Ruaud, Jonathan I. Levy, Paul Kuentz, Alain Verloes, Laurence Faivre
Publikováno v:
Clinical Genetics
Clinical Genetics, 2021, 100 (4), pp.396-404. ⟨10.1111/cge.14017⟩
Clinical Genetics. Wiley
Clinical Genetics, 2021, 100 (4), pp.396-404. ⟨10.1111/cge.14017⟩
Clinical Genetics. Wiley
International audience; Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes encoding for membe
Autor:
Odile Boute, Lyse Ruaud, Aafke Engwerda, Anne-Claude Tabet, Lionel Van Maldergem, Patrick Callier, Bérénice Schell, Céline Dupont, Jessica Assoumani, Caroline Benech, Nathalie Marle, Nathalie Couque, Houda Karmous-Benailly, Jonathan Levy, Elise Boudry Labis, Mélanie Rama, Alain Verloes, Sylvia Redon, Myriam Rachid, Conny M. A. Ravenswaaij‐Arts, Laurence Faivre, Morgane Plutino, Paul Kuentz, Hala Nasser
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf1b963ac1a0a8b3e691b08b6f668fe6
https://doi.org/10.1111/cge.14017/v3/response1
https://doi.org/10.1111/cge.14017/v3/response1
Autor:
Eulalia Baselga, Jill Clayton-Smith, Pierre Vabres, Alon Kashanian, Grazia M.S. Mancini, Victor Martinez-Glez, Laurence Faivre, Moise Danielpour, Marie-Cécile Manière, Kim M. Keppler-Noreuil, Robert K. Semple, Marie-Claire Y. de Wit, Victoria E. R. Parker, John M. Graham, Myfanwy Rawson, Sofia Douzgou, Leslie G. Biesecker, Siddharth Srivastava, Paul Kuentz, Ghayda M. Mirzaa
Publikováno v:
Clin Genet
Douzgou, S, Rawson, M, Baselga, E, Danielpour, M, Faivre, L, Kashanian, A, Keppler-noreuil, K M, Kuentz, P, Mancini, G M S, Maniere, M, Martinez-glez, V, Parker, V E, Semple, R K, Srivastava, S, Vabres, P, Wit, M Y, Graham, J M, Clayton-smith, J, Mirzaa, G M & Biesecker, L G 2021, ' A standard of care for individuals with PIK3CA -related disorders: an international expert consensus statement ', Clinical genetics . https://doi.org/10.1111/cge.14027
Douzgou, S, Rawson, M, Baselga, E, Danielpour, M, Faivre, L, Kashanian, A, Keppler-noreuil, K M, Kuentz, P, Mancini, G M S, Maniere, M, Martinez-glez, V, Parker, V E, Semple, R K, Srivastava, S, Vabres, P, Wit, M Y, Graham, J M, Clayton-smith, J, Mirzaa, G M & Biesecker, L G 2021, ' A standard of care for individuals with PIK3CA -related disorders: an international expert consensus statement ', Clinical genetics . https://doi.org/10.1111/cge.14027
Growth promoting variants in PIK3CA cause a spectrum of developmental disorders, depending on the developmental timing of the mutation and tissues involved. These phenotypically heterogeneous entities have been grouped as PIK3CA-Related Overgrowth Sp