المؤلفون: Billes, Alexis, Pujalte, Mathilde, Jedraszak, Guillaume, Amsallem, Daniel, Boudry‐Labis, Elise, Boute, Odile, Bouquillon, Sonia, Brischoux‐Boucher, Elise, Callier, Patrick, Coutton, Charles, Denizet, Anne‐Laude Avice, Dieterich, Klaus, Kuentz, Paul, Lespinasse, James, Mazel, Benoît, Morin, Gilles, Amram, Florence, Pennamen, Perrine, Rio, Marlène, Piard, Juliette, Putoux, Audrey, Rama, Mélanie, Roze‐Guillaumey, Virginie, Schluth‐Bolard, Caroline, Till, Marianne, Trouvé, Chloé, Vieville, Gaëlle, Rooryck, Caroline, Sanlaville, Damien, Chatron, Nicolas

المصدر: Clinical Genetics ; volume 106, issue 3, page 234-246 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14525
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14525

المؤلفون: Calpena, Eduardo, McGowan, Simon J., Blanco Kelly, Fiona, Boudry-Labis, Elise, Dieux-Coeslier, Anne, Harrison, Rachel, Johnson, Diana, Lachlan, Katherine, Morton, Jenny E.V., Stewart, Helen, Vasudevan, Pradeep, Twigg, Stephen R.F., Wilkie, Andrew O.M.

وصف الملف: text

Relation: https://eprints.soton.ac.uk/452162/1/humu.24213.pdf; Calpena, Eduardo, McGowan, Simon J., Blanco Kelly, Fiona, Boudry-Labis, Elise, Dieux-Coeslier, Anne, Harrison, Rachel, Johnson, Diana, Lachlan, Katherine, Morton, Jenny E.V., Stewart, Helen, Vasudevan, Pradeep, Twigg, Stephen R.F. and Wilkie, Andrew O.M. , Genomics England Research Consortium (2021) Dissection of contiguous gene effects for deletions around ERF on chromosome 19. Human Mutation, 42 (7), 811-817. (doi:10.1002/humu.24213 ).

الاتاحة: https://eprints.soton.ac.uk/452162/
https://eprints.soton.ac.uk/452162/1/humu.24213.pdf

المؤلفون: Levy, Jonathan, Schell, Berenice, Nasser, Hala, Rachid, Myriam, Ruaud, Lyse, Couque, Nathalie, Callier, Patrick, Faivre, Laurence, Marle, Nathalie, Engwerda, Aafk, van Ravenswaaij-Arts, Conny M. A., Plutino, Morgane, Karmous-Benailly, Houda, Benech, Caroline, Redon, Sylvia, Boute, Odil, Boudry Labis, Elise, Rama, Melanie, Kuentz, Paul, Assoumani, Jessica, Maldergem, Lionel Van, Dupont, Celine, Verloes, Alain, Tabet, Anne-Claude

المصدر: Levy , J , Schell , B , Nasser , H , Rachid , M , Ruaud , L , Couque , N , Callier , P , Faivre , L , Marle , N , Engwerda , A , van Ravenswaaij-Arts , C M A , Plutino , M , Karmous-Benailly , H , Benech , C , Redon , S , Boute , O , Boudry Labis , E , Rama , M , Kuentz , P , Assoumani , J , Maldergem , L V , Dupont , C , Verloes , A & Tabet , ....

مصطلحات موضوعية: 6q16, 1 microdeletion, EPHA7, intellectual disability, microcephaly, neurodevelopmental disorder, speech and language development

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/d6fdda89-c569-47a2-a39d-78535b9b40dd
https://research.rug.nl/en/publications/d6fdda89-c569-47a2-a39d-78535b9b40dd
https://doi.org/10.1111/cge.14017
https://pure.rug.nl/ws/files/175928539/cge.14017.pdf

المؤلفون: Duployez, Nicolas, Boudry-Labis, Elise, Roumier, Christophe, Boissel, Nicolas, Petit, Arnaud, Geffroy, Sandrine, Helevaut, Nathalie, Celli-Lebras, Karine, Terré, Christine, Fenneteau, Odile, Cuccuini, Wendy, Luquet, Isabelle, Lapillonne, Hélène, Lacombe, Catherine, Cornillet, Pascale, Ifrah, Norbert, Dombret, Hervé, Leverger, Guy, Jourdan, Eric, Preudhomme, Claude

المساهمون: Laboratoire d'Hématologie CHRU Lille (Centre de Biologie et de Pathologie), Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Institut de Génétique Médicale CHRU Lille, Hôpital Jeanne de Flandre Lille -Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Service d'Hématologie AP-HP Hôpital Saint-Louis, Hopital Saint-Louis AP-HP (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Saint-Antoine AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Sorbonne Université (SU), CHU Trousseau APHP, Département de Génétique CH Versailles, Centre Hospitalier de Versailles André Mignot (CHV), Laboratoire d'Hématologie AP-HP Hôpital Robert Debré, AP-HP Hôpital universitaire Robert-Debré Paris, Département de Cytogénétique AP-HP Hôpital Saint-Louis, Service Hématologie - IUCT-Oncopole CHU Toulouse, Pôle Biologie CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle IUCT CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Cochin AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital universitaire Robert Debré Reims (CHU Reims), Innate Immunity and Immunotherapy (CRCINA-ÉQUIPE 7), Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Département d'Hématologie CHU Nîmes, Centre Hospitalier Universitaire de Nîmes (CHU Nîmes)

المصدر: ISSN: 1949-2553 ; Oncotarget ; https://inserm.hal.science/inserm-01813829 ; Oncotarget, 2018, 9, pp.6478 - 6489.

مصطلحات موضوعية: sequencing, core binding factor, SNP-array, acute myeloid leukemia, [SDV.CAN]Life Sciences [q-bio]/Cancer

Relation: inserm-01813829; https://inserm.hal.science/inserm-01813829; https://inserm.hal.science/inserm-01813829/document; https://inserm.hal.science/inserm-01813829/file/oncotarget-09-6478_2018Eq7.pdf

الاتاحة: https://inserm.hal.science/inserm-01813829
https://inserm.hal.science/inserm-01813829/document
https://inserm.hal.science/inserm-01813829/file/oncotarget-09-6478_2018Eq7.pdf

المؤلفون: Wolfe, Kate, McQuillin, Andrew, Alesi, Viola, Boudry Labis, Elise, Cutajar, Peter, Dallapiccola, Bruno, Dentici, Maria Lisa, Dieux-Coeslier, Anne, Duban-Bedu, Benedicte, Duelund Hjortshøj, Tina, Goel, Himanshu, Loddo, Sara, Morrogh, Deborah, Mosca-Boidron, Anne-Laure, Novelli, Antonio, Olivier-Faivre, Laurence, Parker, Jennifer, Parker, Michael J, Patch, Christine, Pelling, Anna L, Smol, Thomas, Tümer, Zeynep, Vanakker, Olivier, van Haeringen, Arie, Vanlerberghe, Clémence, Strydom, Andre, Skuse, David, Bass, Nick

المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS ; ISSN: 1552-4841

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, attention deficit hyperactivity disorder, autism spectrum disorders, copy number variants, developmental delay, intellectual disabilities, COPY-NUMBER VARIANTS, INTELLECTUAL DISABILITY, DISORDERS, SCHIZOPHRENIA, INDIVIDUALS, RELIABILITY, VALIDITY, AUTISM

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8560542; http://hdl.handle.net/1854/LU-8560542; http://dx.doi.org/10.1002/ajmg.b.32627; https://biblio.ugent.be/publication/8560542/file/8560544

الاتاحة: https://biblio.ugent.be/publication/8560542
http://hdl.handle.net/1854/LU-8560542
https://doi.org/10.1002/ajmg.b.32627
https://biblio.ugent.be/publication/8560542/file/8560544

المؤلفون: Huynh, Minh-Tuan, Boudry-Labis, Elise, Massard, Alfred, Thuillier, Caroline, Delobel, Bruno, Duban-Bedu, Bénédicte, Vincent-Delorme, Catherine

المصدر: European Journal of Human Genetics ; volume 26, issue 10, page 1497-1501 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-018-0165-8
http://www.nature.com/articles/s41431-018-0165-8
http://www.nature.com/articles/s41431-018-0165-8.pdf

المؤلفون: Duployez, Nicolas, Boudry‐Labis, Elise, Decool, Gauthier, Grzych, Guillaume, Grardel, Nathalie, Abou Chahla, Wadih, Preudhomme, Claude, Roche‐Lestienne, Catherine

المصدر: Clinical Case Reports ; volume 3, issue 10, page 814-816 ; ISSN 2050-0904 2050-0904

الاتاحة: http://dx.doi.org/10.1002/ccr3.357
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fccr3.357
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.357

المؤلفون: Duployez, Nicolas, Willekens, Christophe, Marceau-Renaut, Alice, Boudry-Labis, Elise, Preudhomme, Claude

المصدر: Expert Review of Hematology ; volume 8, issue 1, page 43-56 ; ISSN 1747-4086 1747-4094

الاتاحة: http://dx.doi.org/10.1586/17474086.2014.976551
http://www.tandfonline.com/doi/pdf/10.1586/17474086.2014.976551

المؤلفون: Billes, Alexis, Pujalte, Mathilde, Jedraszak, Guillaume, Amsallem, Daniel, Boudry-Labis, Elise, Boute, Odile, Bouquillon, Sonia, Brischoux-Boucher, Elise, Callier, Patrick, Coutton, Charles, Denizet, Anne-Laude Avice, Dieterich, Klaus, Kuentz, Paul, Lespinasse, James, Mazel, Benoit, Morin, Gilles, Amram, Florence, Pennamen, Perrine, Rio, Marlene, Piard, Juliette, Putoux, Audrey, Rama, Melanie, Roze-Guillaumey, Virginie, Schluth-Bolard, Caroline, Till, Marianne, Trouve, Chloe, Vieville, Gaelle, Rooryck, Caroline, Sanlaville, Damien, Chatron, Nicolas

الاتاحة: http://dx.doi.org/10.1111/cge.14525/v2/response1

المؤلفون: Smol, Thomas, Thuillier, Caroline, Boudry-Labis, Elise, Dieux-Coeslier, Anne, Duban-Bedu, Benedicte, Caumes, Roseline, Bouquillon, Sonia, Manouvrier, Sylvie, Roche-Lestienne, Catherine, Ghoumid, Jamal

المساهمون: Université de Lille

مصطلحات موضوعية: Cerebellar vermian anomaly, Autism spectrum disorder, Behaviour problems, CHD8-SUPT16H duplication syndrome

Relation: e77238ec-5416-471c-9313-e3905a0f597d; Neurogenetics; http://hdl.handle.net/20.500.12210/55446

الاتاحة: https://hdl.handle.net/20.500.12210/55446

المؤلفون: Smol, Thomas, Petit, Florence, Piton, Amelie, Keren, Boris, Sanlaville, Damien, Afenjar, A., Baker, S., Bedoukian, E. C., Bhoj, E. J., Bonneau, D., Boudry-Labis, Elise, Bouquillon, Sonia, Boute-Benejean, Odile, Caumes, R., Chatron, Nicolas, Colson, Cindy, Coubes, C., Coutton, Charles, Devillard, Francoise, Dieux-Coeslier, Anne, Doco-Fenzy, Martine, Ewans, L. J., Faivre, Laurence, Fassi, E., Field, Michael, Fournier, C., Francannet, Christine, Genevieve, David, Giurgea, Irina, Goldenberg, Alice, Green, A. K., Guerrot, A. M., Heron, D., Isidor, B., Keena, B. A., Krock, Bryan, Kuentz, Paul, Lapi, E., Le Meur, Nathalie, Lesca, Gaetan, Li, D., Marey, I., Mignot, Cyril, Nava, C., Nesbitt, A., Nicolas, Gael, Roche-Lestienne, Catherine, Roscioli, T., Satre, V., Santani, Avni B., Stefanova, M., Steinwall Larsen, S., Saugier-Veber, Pascale, Picker-Minh, S., Thuillier, Caroline, Verloes, Alain, Vieville, Gaelle, Wenzel, M., Willems, M., Whalen, Sandra, Zarate, Yuri A., Ziegler, A., Manouvrier, Sylvie, Kalscheuer, Vera M., Gerard, Benedicte, Ghoumid, Jamal

المساهمون: Université de Lille

مصطلحات موضوعية: MED13L, Intellectual disability, Cardiopathy, Mediator complex

Relation: d07833b2-40f2-4890-b0d4-78fc7191191d; Neurogenetics; http://hdl.handle.net/20.500.12210/55395

الاتاحة: https://hdl.handle.net/20.500.12210/55395

المؤلفون: Huynh, Minh-Tuan, Boudry-Labis, Elise, Massard, Alfred, Thuillier, Caroline, Delobel, Bruno, Duban-Bedu, Benedicte, Vincent, Catherine

المساهمون: Université de Lille

Relation: European journal of human genetics . EJHG; Eur. J. Hum. Genet.; http://hdl.handle.net/20.500.12210/55353

الاتاحة: https://hdl.handle.net/20.500.12210/55353

المؤلفون: Huynh, Minh Tuan, Boudry‐Labis, Elise, Duban, Bénédicte, Andrieux, Joris, Tran, Cong Toai, Tampere, Heidi, Ceraso, Delphine, Manouvrier, Sylvie, Tachdjian, Gérard, Roche‐Lestienne, Catherine, Vincent‐Delorme, Catherine

المصدر: American Journal of Medical Genetics Part A ; volume 173, issue 6, page 1690-1693 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.38206
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.38206
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38206

المؤلفون: Boudry-Labis, Elise, Demeer, Benedicte, Le Caignec, Cedric, Isidor, Bertrand, Mathieu-Dramard, Michele, Plessis, Ghislaine, George, Alice M., Taylor, Juliet, Aftimos, Salim, Wiemer-Kruel, Adelheid, Kohlhase, Juergen, Annerén, Göran, Firth, Helen, Simonic, Ingrid, Vermeesch, Joris, Thuresson, Ann-Charlotte, Copin, Henri, Love, Donald R., Andrieux, Joris

المصدر: European Journal of Medical Genetics. 56(3):163-170

مصطلحات موضوعية: 9q21.13, Interstitial deletion, Mental retardation, Epilepsy, RORB, Array-CGH

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-209882

المؤلفون: Smol, Thomas, Thuillier, Caroline, Boudry-Labis, Elise, Dieux-Coeslier, Anne, Duban-Bedu, Bénédicte, Caumes, Roseline, Bouquillon, Sonia, Manouvrier-Hanu, Sylvie, Roche-Lestienne, Catherine, Ghoumid, Jamal

المصدر: Neurogenetics; Jan2020, Vol. 21 Issue 1, p67-72, 6p

مصطلحات موضوعية: AUTISM spectrum disorders, DEVELOPMENTAL delay, INTELLECTUAL disabilities, PHENOTYPES

المؤلفون: Boudry‐Labis, Elise, Roche‐Lestienne, Catherine, Nibourel, Olivier, Boissel, Nicolas, Terre, Christine, Perot, Christine, Eclache, Virginie, Gachard, Nathalie, Tigaud, Isabelle, Plessis, Ghislaine, Cuccuini, Wendy, Geffroy, Sandrine, Villenet, Céline, Figeac, Martin, Leprêtre, Frederic, Renneville, Aline, Cheok, Meyling, Soulier, Jean, Dombret, Hervé, Preudhomme, Claude

المصدر: American Journal of Hematology ; volume 88, issue 4, page 306-311 ; ISSN 0361-8609 1096-8652

الاتاحة: http://dx.doi.org/10.1002/ajh.23403
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajh.23403
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajh.23403

المؤلفون: Petit, Florence, Andrieux, Joris, Demeer, Bénédicte, Collet, Louis-Michel, Copin, Henri, Boudry-Labis, Elise, Escande, Fabienne, Manouvrier-Hanu, Sylvie, Mathieu-Dramard, Michèle

المصدر: European Journal of Medical Genetics ; volume 56, issue 2, page 88-92 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2012.11.002
https://api.elsevier.com/content/article/PII:S1769721212003096?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721212003096?httpAccept=text/plain

المؤلفون: Huynh, Minh-Tuan, Boudry-Labis, Elise, Massard, Alfred, Thuillier, Caroline, Delobel, Bruno, Duban-Bedu, Bénédicte, Vincent-Delorme, Catherine

المصدر: European Journal of Human Genetics: EJHG; October 2018, Vol. 26 Issue: 10 p1497-1501, 5p

Alternate Title: Cytogenetics in the management of "chronic myeloid leukemia": an update by the Groupe francophone de cytogénétique hématologique (GFCH). (English)

المؤلفون: Roche-Lestienne, Catherine, Boudry-Labis, Elise, Mozziconacci, Marie-Joëlle

المصدر: Annales de Biologie Clinique; Sep/Oct2016, Vol. 74 Issue 5, p511-515, 5p

المؤلفون: Duployez, Nicolas, Willekens, Christophe, Marceau-Renaut, Alice, Boudry-Labis, Elise, Preudhomme, Claude

المصدر: Expert Review of Hematology; Feb2015, Vol. 8 Issue 1, p43-56, 14p