Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Radu, Harbuz"'
Autor:
Anna Lamotte, Guillaume Martinez, Françoise Devillard, Jean-Pascal Hograindleur, Véronique Satre, Charles Coutton, Radu Harbuz, Florence Amblard, James Lespinasse, Mehdi Benchaib, Julien Bessonnat, Sophie Brouillet, Sylviane Hennebicq
Publikováno v:
Basic and Clinical Andrology, Vol 28, Iss 1, Pp 1-11 (2018)
Résumé Contexte Le mode de ségrégation chromosomique le plus fréquemment observé chez les patients porteurs de translocation robertsonienne est. un mode équilibré. Les données semblent varier peu selon la translocation analysée. La relative
Externí odkaz:
https://doaj.org/article/f539ff76fb6c4492ac5dedf16e72b95f
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:
Quentin Testard, Xavier Vanhoye, Kevin Yauy, Marie-Emmanuelle Naud, Gaelle Vieville, Francis Rousseau, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, David Genevieve, Vincent Gatinois, Constance Wells, Marjolaine Willems, Christine Coubes, Lucile Pinson, Rodolphe Dard, Aude Tessier, Bérénice Hervé, François Vialard, Ines Harzallah, Renaud Touraine, Benjamin Cogné, Wallid Deb, Thomas Besnard, OIivier Pichon, Béatrice Laudier, Laurent Mesnard, Alice Doreille, Tiffany Busa, Chantal Missirian, Véronique Satre, Charles Coutton, Tristan Celse, Radu Harbuz, Laure Raymond, Jean-François Taly, Julien Thevenon
BackgroundDespite the availability of whole exome (WES) and genome sequencing (WGS), chromosomal microarray (CMA) remains the first-line diagnostic test in most rare disorders diagnostic workup, looking for copy number variations (CNVs), with a diagn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::802e35e0415f3246533a03d287191c78
https://doi.org/10.1101/2021.10.14.21264732
https://doi.org/10.1101/2021.10.14.21264732
Autor:
Renaud Touraine, Véronique Adouard, Pierre-Simon Jouk, Véronique Satre, Radu Harbuz, Claire Vettier, Claire Barro, Charles Coutton, Francis Ramond, Julien Thevenon, Brice Poreau, Klaus Dieterich
Publikováno v:
American Journal of Medical Genetics Part A. 179:650-654
The AMME syndrome defined as the combination of Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis (AMME) is known to be a contiguous gene syndrome associated with microdeletions in the region Xq22.3q23. Recently, using
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84530a318dc449d13a19b48b014a44c8
https://doi.org/10.1002/ajmg.a.61057
https://doi.org/10.1002/ajmg.a.61057
Autor:
Pierre-Simon Jouk, Patrick Lorès, Gaëlle Vieville, Véronique Satre, Radu Harbuz, Aurélie Truffot, Graciane Petre, Daniel Vaiman, Pierre F. Ray, Hervé Sartelet, Aminata Touré, François Berger, Brice Poreau, Sandrine Brandeis, Florence Amblard, Guillaume Martinez, Marie Bidart, Françoise Devillard, Charles Coutton
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2018, 94 (6), pp.575-580. ⟨10.1111/cge.13449⟩
Clinical Genetics, Wiley, 2018, 94 (6), pp.575-580. ⟨10.1111/cge.13449⟩
We report findings from a male fetus of 26 weeks' gestational age with severe isolated intrauterine growth restriction (IUGR). Chromosomal microarray analysis (CMA) on amniotic fluid cells revealed a 1.06-Mb duplication in 19q13.42 inherited from the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e291fcb7adce4cee6dc6364d138de01
https://doi.org/10.1111/cge.13449
https://doi.org/10.1111/cge.13449
Autor:
Françoise Devillard, Marie Bidart, Véronique Satre, Pierre-Simon Jouk, Pauline Le Tanno, Frédérique Béna, Pierre F. Ray, Klaus Dieterich, Ida Vogel, Julie Breton, Maria Antonietta Pisanti, Charles Coutton, Hervé Sartelet, Luisa Mackenroth, Siv Fokstuen, M. C. Digilio, Fitsum Guebre-Egziabher, Alexia Apostolou, Karl Hackmann, C Bosson, Rikke Christensen, Sylvie Odent, Antonio Novelli, Radu Harbuz, Rachel Beddow, Gemma Poke, Laura Bernardini, Sylvie Jaillard, Gaëlle Vieville, Florence Amblard
Publikováno v:
Le Tanno, P, Breton, J, Bidart, M, Satre, V, Harbuz, R, Ray, P F, Bosson, C, Dieterich, K, Jaillard, S, Odent, S, Poke, G, Beddow, R, Digilio, M C, Novelli, A, Bernardini, L, Pisanti, M A, Mackenroth, L, Hackmann, K, Vogel, I, Christensen, R, Fokstuen, S, Béna, F, Amblard, F, Devillard, F, Vieville, G, Apostolou, A, Jouk, P-S, Guebre-Egziabher, F, Sartelet, H & Coutton, C 2017, ' PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans ', Journal of Medical Genetics, vol. 54, no. 7, pp. 502-510 . https://doi.org/10.1136/jmedgenet-2016-104435
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) represent a significant healthcare burden since it is the primary cause of chronic kidney in children. CNVs represent a recurrent molecular cause of CAKUT but the culprit gene r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66666cd0586cface1fed31d3f6b63bf4
https://doi.org/10.1136/jmedgenet-2016-104435
https://doi.org/10.1136/jmedgenet-2016-104435
Autor:
Mylène Valduga, Catherine Yardin, François Vialard, Marie-Agnès Collonge-Rame, Nathalie Leporrier, Marianne Till, Camille Lebel-Roy, Nicolas Gruchy, Nathalie Le Meur, Frédérique Carré-Pigeon, Sylvie Jaillard, Eleonore Blondeel, Radu Harbuz, Pascal Chambon, A. Vigouroux-Castera, Géraldine Joly-Helas, Elisabeth Flori, Martine Herbaux, James Lespinasse, Mélanie Jimenez Pocquet, Francine Mugneret, Florence Amblard, Philippe Vago, Aurélie Coussement
Publikováno v:
Prenatal Diagnosis. 36:523-529
OBJECTIVE: Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47,XXX and 47,XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::937a6ee3f604797aaf3cb43ced3bb380
https://doi.org/10.1002/pd.4817
https://doi.org/10.1002/pd.4817
Autor:
Hervé Sartelet, Graciane Petre, Françoise Devillard, Pierre-Simon Jouk, Aurélie Truffot, Daniel Vaiman, Véronique Satre, François Berger, Charles Coutton, Sandrine Brandeis, Pierre F. Ray, Patrick Lorès, Radu Harbuz, Marie Bidart, Aminata Touré, Guillaume Martinez, Gaëlle Vieville, Brice Poreau, Florence Amblard
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e7b12a3eedf8850bbcaf228c3e3add7
https://doi.org/10.1111/cge.13449/v2/response1
https://doi.org/10.1111/cge.13449/v2/response1
Autor:
François Vialard, Eva Pipiras, Pascale Kleinfinger, Dominique Martin-Coignard, Marie Catty, Elisabeth Flori, Emilie Landais, Mylène Valduga, Marie-France Portnoï, Aline Receveur, Agnès Choiset, Ghislaine Plessis, Nathalie Le Meur, Audrey Basinko, Justine Besseau-Ayasse, James Lespinasse, Radu Harbuz, Céline Poirsier, Martine Doco-Fenzy, Pascaline Letard, Caroline Schluth-Bolard, Anne Bazin, Jérôme Toutain, Fabienne Prieur, Florence Amblard, Cédric Le Caignec, Tiffany Busa, Marie Christine de Blois, Melanie Jimenez, Patrick Callier, Chantal Missirian, Céline Pebrel-Richard, Paul Kuentz, Catherine Yardin, François Cartault, Hakima Lallaoui
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.844-851. ⟨10.1038/ejhg.2015.219⟩
European Journal of Human Genetics, 2016, 24 (6), pp.844-851. ⟨10.1038/ejhg.2015.219⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.844-851. ⟨10.1038/ejhg.2015.219⟩
European Journal of Human Genetics, 2016, 24 (6), pp.844-851. ⟨10.1038/ejhg.2015.219⟩
Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3f1304560b82bb45e311e62d391665b
https://doi.org/10.1038/ejhg.2015.219
https://doi.org/10.1038/ejhg.2015.219
Autor:
Tove B. Haaland, Mary Lou Smith, Sarah Bowdin, Katja S. Brocke-Holmefjord, Gunnar Houge, Stephen W. Scherer, Katia J. Sinopoli, Brigitte Gilbert-Dussardier, Emmanuelle Lagrue, Christian R. Marshall, Catherine Vincent-Delorme, Susan Walker, Berge A. Minassian, Vera M. Kalscheuer, Andrea K. Vaags, Cindy Gilles, Radu Harbuz
Publikováno v:
Annals of Neurology. 76:758-764
Synaptic function is central to brain function. Understanding the synapse is aided by studies of patients lacking individual synaptic proteins. Common neurological diseases are genetically complex. Their understanding is likewise simplified by studie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::82cf56b89fde09d108c248929e541e7b
https://doi.org/10.1002/ana.24274
https://doi.org/10.1002/ana.24274