Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication
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
Published in Clinical genetics (01.09.2024)
Published in Clinical genetics (01.09.2024)
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Journal Article
Dissection of contiguous gene effects for deletions around ERF on chromosome 19
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.
Published in Human mutation (01.07.2021)
Published in Human mutation (01.07.2021)
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Journal Article
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications
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
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2018)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2018)
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Journal Article
Neurofibromatosis‐1 gene deletions and mutations in de novo adult acute myeloid leukemia
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
Published in American journal of hematology (01.04.2013)
Published in American journal of hematology (01.04.2013)
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Journal Article
Diagnosis of intrachromosomal amplification of chromosome 21 (iAMP21) by molecular cytogenetics in pediatric acute lymphoblastic leukemia
Duployez, Nicolas, Boudry‐Labis, Elise, Decool, Gauthier, Grzych, Guillaume, Grardel, Nathalie, Abou Chahla, Wadih, Preudhomme, Claude, Roche‐Lestienne, Catherine
Published in Clinical case reports (01.10.2015)
Published in Clinical case reports (01.10.2015)
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Journal Article
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
Lévy, Jonathan, Schell, Bérénice, Nasser, Hala, Rachid, Myriam, Ruaud, Lyse, Couque, Nathalie, Callier, Patrick, Faivre, Laurence, Marle, Nathalie, Engwerda, Aafke, Ravenswaaij‐Arts, Conny M. A., Plutino, Morgane, Karmous‐Benailly, Houda, Benech, Caroline, Redon, Sylvia, Boute, Odile, Boudry Labis, Elise, Rama, Mélanie, Kuentz, Paul, Assoumani, Jessica, Maldergem, Lionel Van, Dupont, Céline, Verloes, Alain, Tabet, Anne‐Claude
Published in Clinical genetics (01.10.2021)
Published in Clinical genetics (01.10.2021)
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Journal Article
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion
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
Published in American journal of medical genetics. Part A (01.06.2017)
Published in American journal of medical genetics. Part A (01.06.2017)
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Journal Article
A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome
Huynh, Minh-Tuan, Boudry-Labis, Elise, Massard, Alfred, Thuillier, Caroline, Delobel, Bruno, Duban-Bedu, Bénédicte, Vincent-Delorme, Catherine
Published in European journal of human genetics : EJHG (01.10.2018)
Published in European journal of human genetics : EJHG (01.10.2018)
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Journal Article
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication
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
Published in Neurogenetics (2020)
Published in Neurogenetics (2020)
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Journal Article
SNP-array lesions in core binding factor acute myeloid leukemia
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
Published in Oncotarget (19.01.2018)
Published in Oncotarget (19.01.2018)
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Journal Article
Cytogenetics in the management of "chronic myeloid leukemia": an update by the Groupe francophone de cytogénétique hématologique (GFCH)
Roche-Lestienne, Catherine, Boudry-Labis, Elise, Mozziconacci, Marie-Joëlle
Published in Annales de biologie clinique (Paris) (01.10.2016)
Published in Annales de biologie clinique (Paris) (01.10.2016)
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Journal Article
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features
Boudry-Labis, Elise, Demeer, Bénédicte, Le Caignec, Cédric, Isidor, Bertrand, Mathieu-Dramard, Michèle, Plessis, Ghislaine, George, Alice M, Taylor, Juliet, Aftimos, Salim, Wiemer-Kruel, Adelheid, Kohlhase, Jürgen, Annerén, Göran, Firth, Helen, Simonic, Ingrid, Vermeesch, Joris, Thuresson, Ann-Charlotte, Copin, Henri, Love, Donald R, Andrieux, Joris
Published in European journal of medical genetics (01.03.2013)
Published in European journal of medical genetics (01.03.2013)
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Journal Article
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: Two cases and expansion of the phenotype to radial agenesis
Petit, Florence, Andrieux, Joris, Demeer, Bénédicte, Collet, Louis-Michel, Copin, Henri, Boudry-Labis, Elise, Escande, Fabienne, Manouvrier-Hanu, Sylvie, Mathieu-Dramard, Michèle
Published in European journal of medical genetics (01.02.2013)
Published in European journal of medical genetics (01.02.2013)
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Journal Article
Diagnosis of intrachromosomal amplification of chromosome 21 (iAMP21) by molecular cytogenetics in pediatric acute lymphoblastic leukemia
Duployez, Nicolas, Boudry-Labis, Elise, Decool, Gauthier, Grzych, Guillaume, Grardel, Nathalie, Abou Chahla, Wadih, Preudhomme, Claude, Roche-Lestienne, Catherine
Published in Clinical case reports (01.10.2015)
Published in Clinical case reports (01.10.2015)
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