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Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
Published in:
Human Genetics, 2021, v. 140, n. 10, p. 1459, doi. 10.1007/s00439-021-02344-6
By:
- Melo, Uirá Souto;
- Piard, Juliette;
- Fischer-Zirnsak, Björn;
- Klever, Marius-Konstantin;
- Schöpflin, Robert;
- Mensah, Martin Atta;
- Holtgrewe, Manuel;
- Arbez-Gindre, Francine;
- Martin, Alain;
- Guigue, Virginie;
- Gaillard, Dominique;
- Landais, Emilie;
- Roze, Virginie;
- Kremer, Valerie;
- Ramanah, Rajeev;
- Cabrol, Christelle;
- Harms, Frederike L.;
- Kornak, Uwe;
- Spielmann, Malte;
- Mundlos, Stefan
Publication type:
Article
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 445, doi. 10.1002/ajmg.a.63041
By:
- Jacquin, Clémence;
- Landais, Emilie;
- Poirsier, Céline;
- Afenjar, Alexandra;
- Akhavi, Ahmad;
- Bednarek, Nathalie;
- Bénech, Caroline;
- Bonnard, Adeline;
- Bosquet, Damien;
- Burglen, Lydie;
- Callier, Patrick;
- Chantot‐Bastaraud, Sandra;
- Coubes, Christine;
- Coutton, Charles;
- Delobel, Bruno;
- Descharmes, Margaux;
- Dupont, Jean‐Michel;
- Gatinois, Vincent;
- Gruchy, Nicolas;
- Guterman, Sarah
Publication type:
Article
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 52, doi. 10.1002/ajmg.a.62983
By:
- Jouret, Guillaume;
- Egloff, Matthieu;
- Landais, Emilie;
- Tassy, Olivier;
- Giuliano, Fabienne;
- Karmous‐Benailly, Houda;
- Coutton, Charles;
- Satre, Véronique;
- Devillard, Françoise;
- Dieterich, Klaus;
- Vieville, Gaëlle;
- Kuentz, Paul;
- le Caignec, Cédric;
- Beneteau, Claire;
- Isidor, Bertrand;
- Nizon, Mathilde;
- Callier, Patrick;
- Marquet, Valentine;
- Bieth, Eric;
- Lévy, Jonathan
Publication type:
Article
A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1275, doi. 10.1002/ajmg.a.36995
By:
- Landais, Emilie;
- Leroy, Camille;
- Kleinfinger, Pascale;
- Brunet, Stéphanie;
- Koubi, Valérie;
- Pietrement, Christine;
- Poli‐Mérol, Marie‐Laurence;
- Fiquet, Caroline;
- Souchon, Pierre‐François;
- Beri, Mylène;
- Jonveaux, Philippe;
- Garnotel, Roselyne;
- Gaillard, Dominique;
- Doco‐Fenzy, Martine
Publication type:
Article
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 471, doi. 10.1038/ejhg.2013.189
By:
- Doco-Fenzy, Martine;
- Leroy, Camille;
- Schneider, Anouck;
- Petit, Florence;
- Delrue, Marie-Ange;
- Andrieux, Joris;
- Perrin-Sabourin, Laurence;
- Landais, Emilie;
- Aboura, Azzedine;
- Puechberty, Jacques;
- Girard, Manon;
- Tournaire, Magali;
- Sanchez, Elodie;
- Rooryck, Caroline;
- Ameil, Agnès;
- Goossens, Michel;
- Jonveaux, Philippe;
- Lefort, Geneviève;
- Taine, Laurence;
- Cailley, Dorothée
Publication type:
Article
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 602, doi. 10.1038/ejhg.2012.230
By:
- Leroy, Camille;
- Landais, Emilie;
- Briault, Sylvain;
- David, Albert;
- Tassy, Olivier;
- Gruchy, Nicolas;
- Delobel, Bruno;
- Grégoire, Marie-José;
- Leheup, Bruno;
- Taine, Laurence;
- Lacombe, Didier;
- Delrue, Marie-Ange;
- Toutain, Annick;
- Paubel, Agathe;
- Mugneret, Francine;
- Thauvin-Robinet, Christel;
- Arpin, Stéphanie;
- Le Caignec, Cedric;
- Jonveaux, Philippe;
- Beri, Mylène
Publication type:
Article
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 6, p. 680, doi. 10.1038/sj.ejhg.5201977
By:
- Schneider, Anouck;
- Benzacken, Brigitte;
- Guichet, Agnès;
- Verloes, Alain;
- Bonneau, Dominique;
- Collot, Nathalie;
- Dastot-Le-Moal, Florence;
- Goossens, Michel;
- Taine, Laurence;
- Landais, Emilie;
- Gaillard, Dominique;
- Doco-Fenzy, Martine
Publication type:
Article
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 16, p. 3306, doi. 10.1093/hmg/ddt187
By:
- Van Maldergem, Lionel;
- Hou, Qingming;
- Kalscheuer, Vera M.;
- Rio, Marlène;
- Doco-Fenzy, Martine;
- Medeira, Ana;
- de Brouwer, Arjan P.M.;
- Cabrol, Christelle;
- Haas, Stefan A.;
- Cacciagli, Pierre;
- Moutton, Sébastien;
- Landais, Emilie;
- Motte, Jacques;
- Colleaux, Laurence;
- Bonnet, Céline;
- Villard, Laurent;
- Dupont, Juliette;
- Man, Heng-Ye
Publication type:
Article

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