Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Arthur Sorlin"'
Autor:
Florence Petit, Fabienne Giuliano, Juliette Mazereeuw-Hautier, Marjolaine Willems, Christel Thauvin-Robinet, Patricia Blanchet, Laurence Faivre, Elodie Gautier, Anne-Claire Bursztejn, Renaud Touraine, Annick Toutain, Frederico Di Rocco, Maxime Luu, Patrick Edery, Arthur Sorlin, Jean-Luc Alessandri, Nicolas Chassaing, Alice Goldenberg, Christine Chiaverini, Fanny Morice-Picard, Aurore Garde, Stéphanie Arpin, Massimiliano Rossi, Marc Bardou, Claire Nicolas, Gilles Morin, Jenny Cornaton, Cyril Mignot, Christophe Philippe, V. Carmignac, Rodolphe Dard, Joelle Roume, Michèle Mathieu-Dramard, Philippe Khau Van Kien, Pierre Vabres, Didier Lacombe, Diane Doummar, Lucile Pinson, Christine Coubes, Laurent Guibaud, Olivia Boccara
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2021, 99 (5), pp.650-661. ⟨10.1111/cge.13918⟩
Clinical Genetics, Wiley, 2021, 99 (5), pp.650-661. ⟨10.1111/cge.13918⟩
Megalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, n
Autor:
Anne Miret, Lola Lemasson, Benjamin Cogné, Laurence Perrin, Frédéric Tran Mau-Them, Rémi Mathevet, Marion Boucon, Elise Schaefer, Christel Thauvin-Robinet, Christine Juif, Juliette Piard, Solène Bourgouin, Jenny Cornaton, Bertrand Isidor, Catherine Sarret, Fabienne Prieur, Coralie Gonin-Olympiade, Alexandra Afenjar, Christine Coubes, Boris Keren, Bénédicte Gérard, Catherine Vincent-Delorme, Kim Giraudat, Laurence Faivre, Amélie Piton, Antonio Vitobello, Thomas Smol, Annick Toutain, Arthur Sorlin, Sylvie Odent, Yann Trousselet, Fanny Tessier, Martin Chevarin, David Geneviève, Sébastien Moutton, Anne-Claire Gelineau, Ange-Line Bruel, Claire Nicolas, Aurore Garde, Philippe Khau-Van-Kien, Christophe Philippe, Solveig Heide
Publikováno v:
Clinical Genetics
Clinical Genetics, 2020, ⟨10.1111/cge.13894⟩
Clinical Genetics, Wiley, 2020, ⟨10.1111/cge.13894⟩
Clinical Genetics, 2020, ⟨10.1111/cge.13894⟩
Clinical Genetics, Wiley, 2020, ⟨10.1111/cge.13894⟩
White-Sutton syndrome is a rare developmental disorder characterized by global developmental delay, intellectual disabilities (ID), and neurobehavioral abnormalities secondary to pathogenic pogo transposable element-derived protein with zinc finger d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17d2d648dcff1f210a85420907e1f599
https://hal.science/hal-03124488
https://hal.science/hal-03124488
Autor:
Christophe Philippe, Florence Petit, Justine Pasteur, Sandra Whalen, J. Mazereeuw, Nenad Bukvic, Annabel Maruani, Arthur Sorlin, Marjolaine Willems, V. Carmignac, Emmanuelle Bourrat, Alice Goldenberg, Maud Jordan, Pierre Vabres, Smail Hadj-Rabia, Marine Fournet, Bruno Delobel, Jehanne Martel, Anne-Claire Bursztejn, Alice Phan, Fanny Morice-Picard, Cyril Mignot, Luca Borradori, Odile Boute, Paul Kuentz, Antoine Mahé, Marie-Laure Moutard, Juliette Albuisson, Christine Chiaverini
Publikováno v:
Jordan, Maud; Carmignac, Virginie; Sorlin, Arthur; Kuentz, Paul; Albuisson, Juliette; Borradori, Luca; Bourrat, Emmanuelle; Boute, Odile; Bukvic, Nenad; Bursztejn, Anne-Claire; Chiaverini, Christine; Delobel, Bruno; Fournet, Marine; Martel, Jehanne; Goldenberg, Alice; Hadj-Rabia, Smaïl; Mahé, Antoine; Maruani, Annabel; Mazereeuw, Juliette; Mignot, Cyril; ... (2020). Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation. Journal of investigative dermatology, 140(5), 1106-1110.e2. Elsevier 10.1016/j.jid.2019.08.455
Journal of Investigative Dermatology
Journal of Investigative Dermatology, Nature Publishing Group, 2019, ⟨10.1016/j.jid.2019.08.455⟩
Journal of Investigative Dermatology
Journal of Investigative Dermatology, Nature Publishing Group, 2019, ⟨10.1016/j.jid.2019.08.455⟩
International audience; No abstract available
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::152c5c8ffb4444f2b96266b779639851
https://boris.unibe.ch/136733/1/borradori.pdf
https://boris.unibe.ch/136733/1/borradori.pdf
Autor:
Christiane Zweier, Jamal Ghoumid, Cornelia Kraus, Sophie Nambot, Laurence Faivre, Antonio Vitobello, Stéphanie Moortgat, Thierry Bienvenu, Christel Thauvin-Robinet, Virginie Carmignac, Benjamin Cogné, Frédéric Tran Mau-Them, Julien Thevenon, Patrick Callier, Alain Verloes, Christophe Philippe, Sophie Naudion, Renaud Touraine, André Reis, Arthur Sorlin, Caroline Thuillier, Bruno Delobel, Thibaud Jouan, Francis Ramond, Cécile Zordan, Daphné Lehalle, Valérie Benoit, Yannis Duffourd, Mathilde Nizon, Emilie Tisserant, Thomas Smol
Publikováno v:
Clinical geneticsREFERENCES. 98(1)
X-linked intellectual disability (XLID) is a genetically heterogeneous condition involving more than 100 genes. To date, 35 pathogenic variants have been reported in the lysine specific demethylase 5C (KDM5C) gene. KDM5C variants are one of the major
Autor:
Sebastien Moutton, Aurore Garde, Laurence Faivre, François Feillet, Christel Thauvin-Robinet, Paul Kuentz, Antonio Vitobello, Frédéric Huet, Arthur Sorlin, Roberto Colombo, Nada Houcinat, Yannis Duffourd, Caroline Racine, Julian Delanne, Christophe Philippe, Daphné Lehalle, Michael J. O'Grady, Julien Thevenon, Frédéric Tran Mau-Them, Bénédicte Héron, Sandrine Marlin, Sophie Nambot
Publikováno v:
American journal of medical genetics. Part A. 179(9)
Alpha-mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi-systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomali
Autor:
Aurélia Jacquette, Alice Goldenberg, Thierry Frebourg, Julien Thevenon, David Geneviève, Anne-Marie Guerrot, Andrée Delahaye-Duriez, Yline Capri, Bruno Leheup, François Lecoquierre, Florence Riccardi, Tiffany Busa, Laurent Villard, Pierre Cacciagli, Vincent Gatinois, Julien Mancini, Chantal Missirian, Lionel Van Maldergem, Massimiliano Rossi, Laurence Perrin, Catherine Vincent-Delorme, Pascale Saugier-Veber, Philippe Khau Van Kien, Gwenaël Nadeau, Annick Toutain, Alain Verloes, Sandrine Marlin, Rolph Pfundt, Elise Schaefer, Arthur Sorlin, Vincent Michaud, Christel Thauvin-Robinet, Philippe Parent, Cyril Mignot, Charles Coutton, Nicole Philip, Véronique Satre, Aude Tessier
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (11), pp.2847-2859. 〈10.1002/ajmg.a.37878〉
American Journal of Medical Genetics. Part A, 170, 2847-2859
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
American Journal of Medical Genetics. Part A, 170, 11, pp. 2847-2859
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (11), pp.2847-2859. 〈10.1002/ajmg.a.37878〉
American Journal of Medical Genetics. Part A, 170, 2847-2859
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
American Journal of Medical Genetics. Part A, 170, 11, pp. 2847-2859
Item does not contain fulltext KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. We report a clinical and molecular study of 39 patients affected by KBG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9893a4cf738da58e20ba8d0b0c43ef2
https://hal.archives-ouvertes.fr/hal-01469066
https://hal.archives-ouvertes.fr/hal-01469066
Autor:
Judith St-Onge, Yannis Duffourd, Sandra Whalen, Marjolaine Willems, Anne-Claire Bursztejn, Massimiliano Rossi, Bertrand Isidor, Patrick Edery, Odile Boute, Virginie Carmignac, J. Miquel, Sébastien Barbarot, Daniel Amram, Fanny Morice-Picard, A. Phan, Pierre Vabres, Didier Lacombe, Maryse Bonnière, Jean-Baptiste Rivière, Nadia Bahi-Buisson, Catherine Vincent-Delorme, Thibaud Jouan, Paul Kuentz, Caroline Michot, Renaud Touraine, Jean-Benoît Courcet, Christine Francannet, Marie Vincent, Smail Hadj-Rabia, Valérie Cormier-Daire, Christine Coubes, Cyril Mignot, Nathalie Marle, Jeanne Amiel, Michèle Mathieu-Dramard, Philippe Khau Van Kien, Juliette Mazereeuw-Hautier, Annabel Maruani, Salima El Chehadeh, Geneviève Baujat, Christine Chiaverini, Daphné Lehalle, Arthur Sorlin, Florence Petit, Bruno Delobel, Laurence Faivre, Julien Thevenon, Stéphanie Arpin, Didier Bessis, Damien Haye, David Geneviève, Tania Attié-Bitach, Claire Abasq-Thomas, Jelena Martinovic, Alain Verloes, Christel Thauvin-Robinet, Juliette Albuisson, Marie-Line Jacquemont, Alice Goldenberg, Olivia Boccara, Ludovic Martin
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 19(9)
Postzygotic activating mutations of PIK3CA cause a wide range of mosaic disorders collectively referred to as PIK3CA-related overgrowth spectrum (PROS). We describe the diagnostic yield and characteristics of PIK3CA sequencing in PROS. We performed u