Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Marie Bertille Dehouck"'
Autor:
Darina Prchalova, Philippe Pm Campeau, Bénédicte Duban-Bedu, Jacques L. Michaud, Marije Koopmans, Arnold Munnich, Christel Depienne, Marilyn Tallot, Fadi F. Hamdan, Eveline Hagebeuk, Marie-Laure Moutard, Anna Kaminska, Petra Laššuthová, Kathryn G. Miller, Ange Line Bruel, Xilma Xr Ortiz-Gonzalez, Shoji Ichikawa, Ingo Helbig, Ethan Em Goldberg, Sarah Weckhuysen, Daphné Lehalle, Elena Gardella, Marie-Bertille Dehouck, Claude Besmond, Patrick Edery, Christine Ioos, Pauline Marzin, Christine Coubes, Julien Buratti, Rima Nabbout, Hubert Journel, Audrey Putoux, Giulia Barcia, Laurence Hubert, Claire Davidson, Berten Ceulemans, Ana Ag Cristancho, Fiona Cunningham, Chloé Quélin, Christèle Dubourg, Aoife Ac McMahon, Thomas Smol, Delphine Héron, Katalin Štěrbová, Katherine Kl Helbig, Boris Keren, Ivan Shelihan, Damien Lederer, Rikke Rs Møller, Emílie Vyhnálková, Alyssa R. Rosen, Natasha Shur, Julie Gauthier, Dragan Marjanovic, Berge Ba Minassian, Marleen Simon, Ledia Brunga, Guillaume Smits, Sandra Janssens, Catheline Vilain, Gaetan Lesca, Caroline Nava, Jasper J. van der Smagt, Laurent Villard, Cyril Mignot, Samuel P. Yang, Joelle Roume, Julie Soblet, JM Pinard, Stéphanie Gobin-Limballe, Bobby P. C. Koeleman, Miroslava Hancarova, Elizabeth J. Donner, Nienke Ne Verbeek, Marie-Line Jacquemont, Marjan J. A. van Kempen, Julia Metreau, David Geneviève, Joannella Morales, Peter M. van Hasselt, Christine Barnerias, Caroline Lacoste, Claire Bar, Thierry Bienvenu, Mathieu Milh, Elsa Rossignol
Publikováno v:
Genetics in medicine, 21 (4
Genetics in Medicine
Genetics in Medicine, 2019, 21 (4), pp.837-849. ⟨10.1038/s41436-018-0268-1⟩
Mignot, C, McMahon, A C, Bar, C, Campeau, P M, Davidson, C, Buratti, J, Nava, C, Jacquemont, M-L, Tallot, M, Milh, M, Edery, P, Marzin, P, Barcia, G, Barnerias, C, Besmond, C, Bienvenu, T, Bruel, A-L, Brunga, L, Ceulemans, B, Coubes, C, Cristancho, A G, Cunningham, F, Dehouck, M-B, Donner, E J, Duban-Bedu, B, Dubourg, C, Gardella, E, Gauthier, J, Geneviève, D, Gobin-Limballe, S, Goldberg, E M, Hagebeuk, E, Hamdan, F F, Hančárová, M, Hubert, L, Ioos, C, Ichikawa, S, Janssens, S, Journel, H, Kaminska, A, Keren, B, Koopmans, M, Lacoste, C, Laššuthová, P, Lederer, D, Lehalle, D, Marjanovic, D, Métreau, J, Michaud, J L, Miller, K, Minassian, B A, Morales, J, Moutard, M-L, Munnich, A, Ortiz-Gonzalez, X R, Pinard, J-M, Prchalová, D, Putoux, A, Quelin, C, Rosen, A R, Roume, J, Rossignol, E, Simon, M E H, Smol, T, Shur, N, Shelihan, I, Štěrbová, K, Vyhnálková, E, Vilain, C, Soblet, J, Smits, G, Yang, S P, van der Smagt, J J, van Hasselt, P M, van Kempen, M, Weckhuysen, S, Helbig, I, Villard, L, Héron, D, Koeleman, B, Møller, R S, Lesca, G, Helbig, K L, Nabbout, R, Verbeek, N E & Depienne, C 2019, ' IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients ', Genetics in Medicine, vol. 21, no. 4, pp. 837-849 . https://doi.org/10.1038/s41436-018-0268-1
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in Medicine, Nature Publishing Group, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in Medicine, 21(4), 837. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2018, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in medicine
Genetics in Medicine
Genetics in Medicine, 2019, 21 (4), pp.837-849. ⟨10.1038/s41436-018-0268-1⟩
Mignot, C, McMahon, A C, Bar, C, Campeau, P M, Davidson, C, Buratti, J, Nava, C, Jacquemont, M-L, Tallot, M, Milh, M, Edery, P, Marzin, P, Barcia, G, Barnerias, C, Besmond, C, Bienvenu, T, Bruel, A-L, Brunga, L, Ceulemans, B, Coubes, C, Cristancho, A G, Cunningham, F, Dehouck, M-B, Donner, E J, Duban-Bedu, B, Dubourg, C, Gardella, E, Gauthier, J, Geneviève, D, Gobin-Limballe, S, Goldberg, E M, Hagebeuk, E, Hamdan, F F, Hančárová, M, Hubert, L, Ioos, C, Ichikawa, S, Janssens, S, Journel, H, Kaminska, A, Keren, B, Koopmans, M, Lacoste, C, Laššuthová, P, Lederer, D, Lehalle, D, Marjanovic, D, Métreau, J, Michaud, J L, Miller, K, Minassian, B A, Morales, J, Moutard, M-L, Munnich, A, Ortiz-Gonzalez, X R, Pinard, J-M, Prchalová, D, Putoux, A, Quelin, C, Rosen, A R, Roume, J, Rossignol, E, Simon, M E H, Smol, T, Shur, N, Shelihan, I, Štěrbová, K, Vyhnálková, E, Vilain, C, Soblet, J, Smits, G, Yang, S P, van der Smagt, J J, van Hasselt, P M, van Kempen, M, Weckhuysen, S, Helbig, I, Villard, L, Héron, D, Koeleman, B, Møller, R S, Lesca, G, Helbig, K L, Nabbout, R, Verbeek, N E & Depienne, C 2019, ' IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients ', Genetics in Medicine, vol. 21, no. 4, pp. 837-849 . https://doi.org/10.1038/s41436-018-0268-1
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in Medicine, Nature Publishing Group, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in Medicine, 21(4), 837. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2018, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in medicine
Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.
SCOPUS: ar.j
info:eu-repo/semantics/published
SCOPUS: ar.j
info:eu-repo/semantics/published
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa249166f7233478cfd55c96fecca05b
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/287187
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/287187
Autor:
Petra Laššuthová, Kathryn G. Miller, Jacques L. Michaud, Sarah Weckhuysen, Claude Besmond, Stéphanie Gobin-Limballe, Emílie Vyhnálková, Aoife McMahon, Peter M. van Hasselt, Christine Barnerias, Laurence Hubert, Joannella Morales, Daphné Lehalle, Caroline Lacoste, Rima Nabbout, Hubert Journel, Jasper J. van der Smagt, Patrick Edery, Marjan J. A. van Kempen, Samuel P. Yang, Fiona Cunningham, Thomas Smol, Delphine Héron, Darina Prchalova, David Geneviève, Thierry Bienvenu, Mathieu Milh, Bénédicte Duban-Bedu, Ledia Brunga, Marleen Simon, Ana G. Cristancho, Ethan M. Goldberg, Sandra Janssens, Christel Depienne, Miroslava Hancarova, Shoji Ichikawa, Berge A. Minassian, Ivan Shelihan, Elsa Rossignol, Ange Line Bruel, Elena Gardella, Marije Koopmans, Arnold Munnich, Natasha Shur, Pauline Marzin, Ingo Helbig, Julien Buratti, Alyssa R. Rosen, Giulia Barcia, Claire Davidson, Berten Ceulemans, Marilyn Tallot, Marie Line Jacquemont, Guillaume Smits, Catheline Vilain, Katherine L. Helbig, Gaetan Lesca, Rikke S. Møller, Claire Bar, Marie Laure Moutard, Caroline Nava, Marie Bertille Dehouck, Julie Soblet, Philippe M. Campeau, Cyril Mignot, Laurent Villard, Joelle Roume, Julia Metreau, Dragan Marjanovic, Damien Lederer, Audrey Putoux, Chloé Quélin, Fadi F. Hamdan, Boris Keren, Anna Kaminska, Xilma R. Ortiz-Gonzalez, Christine Ioos, Christine Coubes, Julie Gauthier, Nienke E. Verbeek, Bobby P. C. Koeleman, Eveline Hagebeuk, Jean Marc Pinard, Katalin Štěrbová, Christèle Dubourg, Elizabeth J. Donner
Publikováno v:
Mignot, C, McMahon, A C, Bar, C, Campeau, P M, Davidson, C, Buratti, J, Nava, C, Jacquemont, M L, Tallot, M, Milh, M, Edery, P, Marzin, P, Barcia, G, Barnerias, C, Besmond, C, Bienvenu, T, Bruel, A L, Brunga, L, Ceulemans, B, Coubes, C, Cristancho, A G, Cunningham, F, Dehouck, M B, Donner, E J, Duban-Bedu, B, Dubourg, C, Gardella, E, Gauthier, J, Geneviève, D, Gobin-Limballe, S, Goldberg, E M, Hagebeuk, E, Hamdan, F F, Hančárová, M, Hubert, L, Ioos, C, Ichikawa, S, Janssens, S, Journel, H, Kaminska, A, Keren, B, Koopmans, M, Lacoste, C, Laššuthová, P, Lederer, D, Lehalle, D, Marjanovic, D, Métreau, J, Michaud, J L, Miller, K, Minassian, B A, Morales, J, Moutard, M L, Munnich, A, Ortiz-Gonzalez, X R, Pinard, J M, Prchalová, D, Putoux, A, Quelin, C, Rosen, A R, Roume, J, Rossignol, E, Simon, M E H, Smol, T, Shur, N, Shelihan, I, Štěrbová, K, Vyhnálková, E, Vilain, C, Soblet, J, Smits, G, Yang, S P, van der Smagt, J J, van Hasselt, P M, van Kempen, M, Weckhuysen, S, Helbig, I, Villard, L, Héron, D, Koeleman, B, Møller, R S, Lesca, G, Helbig, K L, Nabbout, R, Verbeek, N E & Depienne, C 2019, ' Correction: IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients ', Genetics in Medicine, vol. 21, no. 8, pp. 1897-1898 . https://doi.org/10.1038/s41436-018-0327-7
This Article was originally published under Nature Research’s License to Publish, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the Article have been modified accordingly.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7eb19782939810e2271f6c2552f95ec
https://portal.findresearcher.sdu.dk/da/publications/8d5d26bf-dae3-42ea-9734-c876adb49ffa
https://portal.findresearcher.sdu.dk/da/publications/8d5d26bf-dae3-42ea-9734-c876adb49ffa
Autor:
Stefanie Belet, Hilde Van Esch, Jelle Verbeeck, Ana Spreiz, Jill A. Rosenfeld, Guy Froyen, Marijke Bauters, Koenraad Devriendt, Marie-Bertille Dehouck, Amy Goldstein, Edda Haberlandt, Bruno Delobel, Nathalie Fieremans, Joris Andrieux, Dieter Kotzot, Jodie M. Vento, Peter Marynen, Jean-Pierre Fryns, Maureen Holvoet, Joke Vandewalle
Publikováno v:
Human genetics. 132(10)
Loss-of-function mutations in several different neuronal pathways have been related to intellectual disability (ID). Such mutations often are found on the X chromosome in males since they result in functional null alleles. So far, microdeletions at X
Autor:
Florence Petit, Bénédicte Duban-Bedu, Marie-Bertille Dehouck, Bruno Delobel, Frédéric Leprêtre, Steven Richebourg, Sylvie Sukno, Joris Andrieux
Publikováno v:
European journal of medical genetics. 51(4)
We report on a 6-years-old boy with psychomotor retardation, mild dysmorphic features and behavioral disturbances associated with epilepsy. Conventional cytogenetic analysis concluded to an interstitial de novo 6p21.2p22.3 duplication. Molecular cyto