Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Paul Kuentz"'
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:
Lisa Weibel, Jean-Baptiste Rivière, Christophe Philippe, Virginie Carmignac, Paul Kuentz, Arthur Sorlin, Sylvie Fraitag, Laurence Faivre, C. Thauvin-Robinet, Pierre Vabres, Yannis Duffourd, Annabel Maruani, Jeanne Amiel, Olivia Boccara, Martin Theiler
Publikováno v:
Journal of the European Academy of Dermatology and Venereology
Journal of the European Academy of Dermatology and Venereology, Wiley, 2021, ⟨10.1111/jdv.17413⟩
Journal of the European Academy of Dermatology and Venereology, Wiley, 2021, ⟨10.1111/jdv.17413⟩
BRAF postzygotic activating mutations have been found in 50% of cases of syringocystadenoma papilliferum (SCAP)1 and in phacomatosis pigmentokeratotica (PPK)2,3 , also possibly caused by HRAS4 mutations. BRAF is a RAS-activating serine/threonine kina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::202dc28708708d4a0e43e3f7a787ae52
https://hal.archives-ouvertes.fr/hal-03342804
https://hal.archives-ouvertes.fr/hal-03342804
Autor:
Bertrand Isidor, Rami Abou Jamra, Virginie Carmignac, Yannis Duffourd, Helio Pedro, Eriko Koshimizu, Maja Hempel, Tobias Bartolomaeus, Martin Chevarin, Floor A. M. Duijkers, Maria J. Guillen Sacoto, Erin Torti, David Geneviève, David J. Harris, Valerie Loik Ramey, Klaske D. Lichtenbelt, Arthur Sorlin, Miriam Maik, Anne Guimier, Paul Kuentz, Tatjana Bierhals, Orly Elpeleg, Yoshiko Murakami, Laurence Faivre, Jean Baptiste Rivière, Jill Clayton-Smith, Laurent Pasquier, Yuichi Abe, Edgard Verdura, Aviva Fattal, Judith St-Onge, Daphné Lehalle, Joerg Betschinger, Krista Sondergaard-Schatz, Laurie Simone, Christa W. Habela, Ivon Cusco, Mieke M. van Haelst, Pierre Vabres, Laurence Duplomb, Magali Avila, Sakoto Miyakate, Koen L.I. van Gassen, Julien Thevenon, Eveline S. J. M. de Bont, Benjamin Cogné, Pia Zacher, Silvana van Koningsbruggen, Thibaud Jouan, Irene Valenzuela, Christel Thauvin-Robinet
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2020, 57 (12), pp.808-819. ⟨10.1136/jmedgenet-2019-106508⟩
Journal of medical genetics, 57(12):106508, 808-819. BMJ Publishing Group
Lehalle, D, Vabres, P, Sorlin, A, Bierhals, T, Avila, M, Carmignac, V, Chevarin, M, Torti, E, Abe, Y, Bartolomaeus, T, Clayton-Smith, J, Cogné, B, Cusco, I, Duplomb, L, De Bont, E, Duffourd, Y, Duijkers, F, Elpeleg, O, Fattal, A, Geneviève, D, Guillen Sacoto, M J, Guimier, A, Harris, D J, Hempel, M, Isidor, B, Jouan, T, Kuentz, P, Koshimizu, E, Lichtenbelt, K, Loik Ramey, V, Maik, M, Miyakate, S, Murakami, Y, Pasquier, L, Pedro, H, Simone, L, Sondergaard-Schatz, K, St-Onge, J, Thevenon, J, Valenzuela, I, Abou Jamra, R, Van Gassen, K, Van Haelst, M M, Van Koningsbruggen, S, Verdura, E, Whelan Habela, C, Zacher, P, Rivière, J B, Thauvin-Robinet, C, Betschinger, J & Faivre, L 2020, ' De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features ', Journal of Medical Genetics, vol. 57, no. 12, 106508, pp. 808-819 . https://doi.org/10.1136/jmedgenet-2019-106508
Journal of Medical Genetics, 57(12):106508, 808-819. BMJ Publishing Group
Journal of Medical Genetics, 2020, 57 (12), pp.808-819. ⟨10.1136/jmedgenet-2019-106508⟩
Journal of medical genetics, 57(12):106508, 808-819. BMJ Publishing Group
Lehalle, D, Vabres, P, Sorlin, A, Bierhals, T, Avila, M, Carmignac, V, Chevarin, M, Torti, E, Abe, Y, Bartolomaeus, T, Clayton-Smith, J, Cogné, B, Cusco, I, Duplomb, L, De Bont, E, Duffourd, Y, Duijkers, F, Elpeleg, O, Fattal, A, Geneviève, D, Guillen Sacoto, M J, Guimier, A, Harris, D J, Hempel, M, Isidor, B, Jouan, T, Kuentz, P, Koshimizu, E, Lichtenbelt, K, Loik Ramey, V, Maik, M, Miyakate, S, Murakami, Y, Pasquier, L, Pedro, H, Simone, L, Sondergaard-Schatz, K, St-Onge, J, Thevenon, J, Valenzuela, I, Abou Jamra, R, Van Gassen, K, Van Haelst, M M, Van Koningsbruggen, S, Verdura, E, Whelan Habela, C, Zacher, P, Rivière, J B, Thauvin-Robinet, C, Betschinger, J & Faivre, L 2020, ' De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features ', Journal of Medical Genetics, vol. 57, no. 12, 106508, pp. 808-819 . https://doi.org/10.1136/jmedgenet-2019-106508
Journal of Medical Genetics, 57(12):106508, 808-819. BMJ Publishing Group
IntroductionPigmentary mosaicism (PM) manifests by pigmentation anomalies along Blaschko’s lines and represents a clue toward the molecular diagnosis of syndromic intellectual disability (ID). Together with new insights on the role for lysosomal si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0225469b6c5302fe6a000a5d82d85eb
https://doi.org/10.1136/jmedgenet-2019-106508
https://doi.org/10.1136/jmedgenet-2019-106508
Autor:
C. Thauvin-Robinet, Nada Houcinat, Daphné Lehalle, A Vital, Laurence Faivre, Agnès Rötig, Jaak Jaeken, Fan Xia, Matthew N. Bainbridge, Marlène Rio, Sophie Nambot, Jean-Baptiste Rivière, Paul Kuentz, Julien Thevenon, D Gavrilov, Cyril Goizet, Ange-Line Bruel, Fanny Mochel, N Niu, Arthur L. Beaudet, Yannis Duffourd
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2017, 〈www.wiley.com/〉. 〈10.1111/cge.12985〉
www.wiley.com/
Clinical Genetics, Wiley, 2017, 92 (2), pp.188-198. ⟨10.1111/cge.12985⟩
Clinical Genetics, Wiley, 2017, 〈www.wiley.com/〉. 〈10.1111/cge.12985〉
www.wiley.com/
Clinical Genetics, Wiley, 2017, 92 (2), pp.188-198. ⟨10.1111/cge.12985⟩
Background Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan
Autor:
Julien Thevenon, Christiane Zweier, Hilde Olivié, Nicole Revencu, Aurélia Jacquette, Megan T. Cho, Anne-Laure Mosca-Boidron, Marjolein H. Willemsen, Laurence Faivre, Yannis Duffourd, Odile Boute-Benejean, Elaine H. Zackai, Carey McDougall, Amber Begtrup, Anita Rauch, Christel Thauvin-Robinet, Perrine Charles, Koen L.I. van Gassen, Thomas Smol, Laurence Duplomb-Jego, Daphné Lehalle, Amanda Clarkson, Orrin Devinsky, Catherine Vincent-Delorme, Paul Kuentz, Bénédicte Gérard, Patrick Callier, Karol Rubin, Jean-Baptiste Rivière, Sébastien Moutton, Deborah J. Shears, Ana Lisa Taylor Tavares, Ingrid Simonic, Paulien A. Terhal, Soo-Mi Park, Alice Masurel-Paulet, Golder N. Wilson
Publikováno v:
Journal of Medical Genetics, 54(7), 479. BMJ Publishing Group
Journal of Medical Genetics, 54, 479-488
Journal of Medical Genetics, 54, 7, pp. 479-488
Journal of Medical Genetics, 54, 479-488
Journal of Medical Genetics, 54, 7, pp. 479-488
Item does not contain fulltext BACKGROUND: Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this p
Autor:
Jean Donadieu, Delphine Héron, Laurence Faivre, Salima El Chehadeh, Daphné Lehalle, Claire Briandet, Elodie Gautier, Julien Thevenon, Daniel Amram, Thibaud Jouan, Jean-Baptiste Rivière, Judith Melki, Laurence Duplomb-Jego, Frédéric Huet, Christine Bellanné-Chantelot, Christel Thauvin-Robinet, Ange-Line Bruel, Yannis Duffourd, Lucile Pinson, Isabelle Maystadt, Judith St-Onge, Sophia Julia, Alexandra Gauthier-Vasserot, Paul Kuentz
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 〈10.1002/ajmg.a.37969〉
American Journal of Medical Genetics Part A, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 〈10.1002/ajmg.a.37969〉
American Journal of Medical Genetics Part A, 2016, ⟨10.1002/ajmg.a.37969⟩
International audience; Neutropenia can be qualified as congenital when of neonatal onset or when associated with extra-hematopoietic manifestations. Overall, 30% of patients with congenital neutropenia (CN) remain without a molecular diagnosis after
Autor:
Melissa L. Crenshaw, Karin M. Dent, Ange Line Bruel, Mirna Assoum, Ingrid M. Wentzensen, Antonio Vitobello, Laurence Faivre, Kirsty McWalter, Paul Kuentz, Julian Delanne, Christel Thauvin-Robinet, Julien Thevenon, Yannis Duffourd
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(4)
In 2011, KIAA1033/WASHC4 was associated with autosomal recessive intellectual disability (ARID) in a large consanguineous family comprising seven affected individuals with moderate ID and short stature. Since then, no other cases of KIAA1033 variants
Autor:
Chantal Missirian, Sylvie Jaillard, Valérie Malan, Marianne Till, Paul Kuentz, Claire Beneteau, Brigitte Simon-Bouy, Marguerite Hureaux, François Vialard, Nathalie Marle, Nicolas Gruchy, Bérénice Hervé, Laurent Salomon, Morgane Plutino, Fabienne Prieur, Lucie Tosca, Caroline Rooryck, Céline Dupont, Charles Coutton, Caroline Schluth-Bolard, Sarah Guterman, Mylène Valduga, Damien Sanlaville, Sylvie Redon, Jacques Puechberty
Publikováno v:
Prenatal Diagnosis
Prenatal Diagnosis, Wiley, 2019, 39 (6), pp.464-470. ⟨10.1002/pd.5449⟩
Prenatal Diagnosis, Wiley, 2019, 39 (6), pp.464-470. ⟨10.1002/pd.5449⟩
International audience; Objectives Congenital heart defects (CHDs) may be isolated or associated with other malformations. The use of chromosome microarray (CMA) can increase the genetic diagnostic yield for CHDs by between 4% and 10%. The objective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8decd4270286b823269f105dcfe129f6
https://hal.inrae.fr/hal-03179998
https://hal.inrae.fr/hal-03179998
Autor:
Sébastien Schmitt, Philippe Vago, Marie-Laure Maurin, Gregory Egea, Denise Molina Gomes, Emmanuelle Haquet, Marine Lebrun, Jacques Puechberty, François Vialard, Olivier Pichon, Perrine Malzac, Philippe Jonveaux, Martine Doco-Fenzy, Paul Kuentz, Sandra Chantot-Bastaraud, Kamran Moradkhani, Jean-Paul Bonnefont, Caroline Janel, Jean-Michel Dupont, Pierre Boisseau, Jean-Pierre Siffroi, Cédric Le Caignec, Anne-Laure Fauret-Amsellem, Damien Sanlaville, Chantal Missirian, Carole Goumy, Agnès Guichet, Marie-Christine Manca-Pellissier, Renaud Touraine, Laurence Cuisset, Pascale Saugier-Veber, Nicolas Gruchy, Houda Hamdi-Rozé, Bénédicte Duban-Bedu, Bruno Delobel, N. Joye, Isabelle Creveaux, Ines Harzallah, Frédéric Bilan, Philippe Gosset, Marie-Pierre Audrézet
Publikováno v:
Prenatal Diagnosis
Prenatal Diagnosis, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩
Prenatal Diagnosis, Wiley, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩
Prenatal Diagnosis, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩
Prenatal Diagnosis, Wiley, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩
International audience; Objective: Uniparental disomy (UPD) testing is currently recommended during pregnancy in fetuses carrying a balanced Robertsonian translocation (ROB) involving chromosome 14 or 15, both chromosomes containing imprinted genes.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92c647a284e78a1fbe1bdab254bf6bb6
https://hal.science/hal-02343373/document
https://hal.science/hal-02343373/document
Autor:
Shoji Ichikawa, Ilaria Rivolta, Anna Binda, Laurie S. Sadler, Sonia Figueiroa, Renzo Guerrini, Annick Laridon, Pasquale Striano, Katalin Sterbova, Bina Santoro, Petra Laššuthová, Maria Margherita Mancardi, Francesca Ragona, Anna Rosati, Fernando Kok, Laura Canafoglia, Daniele Frattini, Elena Freri, Christine Coubes, Davide Mei, Bobby P. C. Koeleman, Daniel Bauer, Carla Marini, Christel Depienne, Carlotta Spagnoli, Sophie Scheidecker, Carlo Fusco, Tiziana Granata, Barbara Castellotti, Eva H. Brilstra, Federico Melani, Cristina Garrido, Cinzia Gellera, A. Micheil Innes, Wilfrid Carré, Christèle Dubourg, Elena Parrini, Alessandro Porro, Caroline Nava, Maria Giardino, Sophie Julia, Manuela Santos, Yves Alembik, Eric LeGuern, Andrea Barbuti, Silvana Franceschetti, Federico Zara, Paul Kuentz, Raffaella Milanesi, Catherine Mercer, Carine Dalle, Julien Thevenon, Nicolas Deconinck, Agnès Rastetter, Laurent Pasquier, Kay Hamacher, Renske Oegema, Gerhard Thiel, Dario DiFrancesco, Tiziana Pisano, Chelsea Chambers, Jacopo C. DiFrancesco, Guillaume Smits, Katherine L. Helbig, Julie Soblet, Jana Neupauerová, Damien R Clark, Johannes R. Lemke, Radhika Dhamija, Anna Moroni
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (11), pp.3160-3178. ⟨10.1093/brain/awy263⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (11), pp.3160-3178. ⟨10.1093/brain/awy263⟩
International audience; Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related to variants alte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a81d4853ace04d224a5bc24dae47347
https://hal.sorbonne-universite.fr/hal-01977974/document
https://hal.sorbonne-universite.fr/hal-01977974/document