Found: 24

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  • Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.

    Published in:
    2016
    By:
    • Cavallin, Mara;
    • Hubert, Laurence;
    • Cantagrel, Vincent;
    • Munnich, Arnold;
    • Boddaert, Nathalie;
    • Vincent-Delorme, Catherine;
    • Cuvellier, Jean;
    • Masson, Cecile;
    • Besmond, Claude;
    • Bahi-Buisson, Nadia
    Publication type:
    Letter

  • Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

    Published in:
    Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1099995
    By:
    • Mau-Them, Frédéric Tran;
    • Delanne, Julian;
    • Denommé-Pichon, Anne-Sophie;
    • Safraou, Hana;
    • Bruel, Ange-Line;
    • Vitobello, Antonio;
    • Garde, Aurore;
    • Nambot, Sophie;
    • Bourgon, Nicolas;
    • Racine, Caroline;
    • Sorlin, Arthur;
    • Moutton, Sébastien;
    • Marle, Nathalie;
    • Rousseau, Thierry;
    • Sagot, Paul;
    • Simon, Emmanuel;
    • Vincent-Delorme, Catherine;
    • Boute, Odile;
    • Colson, Cindy;
    • Petit, Florence
    Publication type:
    Article

  • Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

    Published in:
    Journal of Human Genetics, 2008, v. 53, n. 9, p. 834, doi. 10.1007/s10038-008-0320-0
    By:
    • Narumi, Yoko;
    • Aoki, Yoko;
    • Niihori, Tetsuya;
    • Sakurai, Masahiro;
    • Cavé, Hélène;
    • Verloes, Alain;
    • Nishio, Kimio;
    • Ohashi, Hirofumi;
    • Kurosawa, Kenji;
    • Okamoto, Nobuhiko;
    • Kawame, Hiroshi;
    • Mizuno, Seiji;
    • Kondoh, Tatsuro;
    • Addor, Marie-Claude;
    • Coeslier-Dieux, Anne;
    • Vincent-Delorme, Catherine;
    • Tabayashi, Koichi;
    • Aoki, Masashi;
    • Kobayashi, Tomoko;
    • Guliyeva, Afag
    Publication type:
    Article

  • Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.

    Published in:
    Annals of Neurology, 2014, v. 76, n. 5, p. 758, doi. 10.1002/ana.24274
    By:
    • Vaags, Andrea K.;
    • Bowdin, Sarah;
    • Smith, Mary‐Lou;
    • Gilbert‐Dussardier, Brigitte;
    • Brocke‐Holmefjord, Katja S.;
    • Sinopoli, Katia;
    • Gilles, Cindy;
    • Haaland, Tove B.;
    • Vincent‐Delorme, Catherine;
    • Lagrue, Emmanuelle;
    • Harbuz, Radu;
    • Walker, Susan;
    • Marshall, Christian R.;
    • Houge, Gunnar;
    • Kalscheuer, Vera M.;
    • Scherer, Stephen W.;
    • Minassian, Berge A.
    Publication type:
    Article

  • Novel Genetic and Phenotypic Expansion in Ameliorated PUF60 -Related Disorders.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 4, p. 2053, doi. 10.3390/ijms25042053
    By:
    • Baum, Emily;
    • Huang, Wenming;
    • Vincent-Delorme, Catherine;
    • Brunelle, Perrine;
    • Antebi, Adam;
    • Dafsari, Hormos Salimi
    Publication type:
    Article

  • Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.

    Published in:
    Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1098, doi. 10.1002/pd.6631
    By:
    • Cuvelier, Vivien;
    • Trost, Detlef;
    • Stichelbout, Morgane;
    • Michot, Caroline;
    • Cormier‐Daire, Valérie;
    • Boutry, Nathalie;
    • Machet, Elise;
    • Vincent‐Delorme, Catherine
    Publication type:
    Article

  • COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.

    Published in:
    Prenatal Diagnosis, 2022, v. 42, n. 5, p. 601, doi. 10.1002/pd.6113
    By:
    • Coste, Thibault;
    • Vincent‐Delorme, Catherine;
    • Stichelbout, Morgane;
    • Devisme, Louise;
    • Gelot, Antoinette;
    • Deryabin, Igor;
    • Pelluard, Fanny;
    • Aloui, Chaker;
    • Leutenegger, Anne‐Louise;
    • Jouannic, Jean‐Marie;
    • Héron, Delphine;
    • Gould, Douglas B;
    • Tournier‐Lasserve, Elisabeth
    Publication type:
    Article

  • Severe X-linked chondrodysplasia punctata in nine new female fetuses.

    Published in:
    Prenatal Diagnosis, 2015, v. 35, n. 7, p. 675, doi. 10.1002/pd.4591
    By:
    • Lefebvre, Mathilde;
    • Dufernez, Fabienne;
    • Bruel, Ange‐Line;
    • Gonzales, Marie;
    • Aral, Bernard;
    • Saint‐Onge, Judith;
    • Gigot, Nadège;
    • Desir, Julie;
    • Daelemans, Caroline;
    • Jossic, Frédérique;
    • Schmitt, Sébastien;
    • Mangione, Raphaele;
    • Pelluard, Fanny;
    • Vincent‐Delorme, Catherine;
    • Labaune, Jean‐Marc;
    • Bigi, Nicole;
    • D'Olne, Dominique;
    • Delezoide, Anne‐Lise;
    • Toutain, Annick;
    • Blesson, Sophie
    Publication type:
    Article

  • A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.

    Published in:
    Genes, 2021, v. 12, n. 8, p. 1275, doi. 10.3390/genes12081275
    By:
    • van der Sluijs, Pleuntje J.;
    • Alders, Mariëlle;
    • Dingemans, Alexander J. M.;
    • Parbhoo, Kareesma;
    • van Bon, Bregje W.;
    • Dempsey, Jennifer C.;
    • Doherty, Dan;
    • den Dunnen, Johan T.;
    • Gerkes, Erica H.;
    • Milller, Ilana M.;
    • Moortgat, Stephanie;
    • Regier, Debra S.;
    • Ruivenkamp, Claudia A. L.;
    • Schmalz, Betsy;
    • Smol, Thomas;
    • Stuurman, Kyra E.;
    • Vincent-Delorme, Catherine;
    • de Vries, Bert B. A.;
    • Sadikovic, Bekim;
    • Hickey, Scott E.
    Publication type:
    Article

  • Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 9, p. 959, doi. 10.1038/ejhg.2011.71
    By:
    • Wentzel, Christian;
    • Rajcan-Separovic, Evica;
    • Ruivenkamp, Claudia A. L.;
    • Chantot-Bastaraud, Sandra;
    • Metay, Corinne;
    • Andrieux, Joris;
    • Annerén, Göran;
    • Gijsbers, Antoinet C. J.;
    • Druart, Luc;
    • Hyon, Capucine;
    • Portnoi, Marie-France;
    • Stattin, Eva-Lena;
    • Vincent-Delorme, Catherine;
    • Kant, Sarina G.;
    • Steinraths, Michelle;
    • Marlin, Sandrine;
    • Giurgea, Irina;
    • Thuresson, Ann-Charlotte
    Publication type:
    Article

  • Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 417, doi. 10.1002/ajmg.c.31591
    By:
    • Legendre, Marine;
    • Abadie, Véronique;
    • Attié‐Bitach, Tania;
    • Philip, Nicole;
    • Busa, Tiffany;
    • Bonneau, Dominique;
    • Colin, Estelle;
    • Dollfus, Hélène;
    • Lacombe, Didier;
    • Toutain, Annick;
    • Blesson, Sophie;
    • Julia, Sophie;
    • Martin‐Coignard, Dominique;
    • Geneviève, David;
    • Leheup, Bruno;
    • Odent, Sylvie;
    • Jouk, Pierre‐Simon;
    • Mercier, Sandra;
    • Faivre, Laurence;
    • Vincent‐Delorme, Catherine
    Publication type:
    Article

  • Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum.

    Published in:
    Clinical Genetics, 2022, v. 101, n. 3, p. 307, doi. 10.1111/cge.14096
    By:
    • Vibert, Roseline;
    • Mignot, Cyril;
    • Keren, Boris;
    • Chantot‐Bastaraud, Sandra;
    • Portnoï, Marie‐France;
    • Nouguès, Marie‐Christine;
    • Moutard, Marie‐Laure;
    • Faudet, Anne;
    • Whalen, Sandra;
    • Haye, Damien;
    • Garel, Catherine;
    • Chatron, Nicolas;
    • Rossi, Massimiliano;
    • Vincent‐Delorme, Catherine;
    • Boute, Odile;
    • Delobel, Bruno;
    • Andrieux, Joris;
    • Devillard, Françoise;
    • Coutton, Charles;
    • Puechberty, Jacques
    Publication type:
    Article

  • Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations.

    Published in:
    Clinical Genetics, 2021, v. 99, n. 3, p. 407, doi. 10.1111/cge.13894
    By:
    • Garde, Aurore;
    • Cornaton, Jenny;
    • Sorlin, Arthur;
    • Moutton, Sébastien;
    • Nicolas, Claire;
    • Juif, Christine;
    • Geneviève, David;
    • Perrin, Laurence;
    • Khau‐Van‐Kien, Philippe;
    • Smol, Thomas;
    • Vincent‐Delorme, Catherine;
    • Isidor, Bertrand;
    • Cogné, Benjamin;
    • Afenjar, Alexandra;
    • Keren, Boris;
    • Coubes, Christine;
    • Prieur, Fabienne;
    • Toutain, Annick;
    • Trousselet, Yann;
    • Bourgouin, Solène
    Publication type:
    Article

  • Parenting stress and needs for social support in mothers and fathers of deaf or hard of hearing children.

    Published in:
    Frontiers in Psychology, 2023, p. 1, doi. 10.3389/fpsyg.2023.1229420
    By:
    • Marie, Amélie;
    • Clabaut, Laëtitia;
    • Corbeil, Marjolaine;
    • Vanlerberghe, Clémence;
    • Vincent-Delorme, Catherine;
    • Le Driant, Barbara
    Publication type:
    Article

  • Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome.

    Published in:
    Pigment Cell & Melanoma Research, 2021, v. 34, n. 1, p. 132, doi. 10.1111/pcmr.12915
    By:
    • Pennamen, Perrine;
    • Tingaud‐Sequeira, Angèle;
    • Michaud, Vincent;
    • Morice‐Picard, Fanny;
    • Plaisant, Claudio;
    • Vincent‐Delorme, Catherine;
    • Giuliano, Fabienne;
    • Azarnoush, Saba;
    • Capri, Yline;
    • Marçon, Carolina;
    • Lacombe, Didier;
    • Lasseaux, Eulalie;
    • Arveiler, Benoît
    Publication type:
    Article

  • Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).

    Published in:
    Human Mutation, 2005, v. 26, n. 2, p. 113, doi. 10.1002/humu.20193
    By:
    • Wieland, Ilse;
    • Reardon, William;
    • Jakubiczka, Sibylle;
    • Franco, Brunella;
    • Kress, Wolfram;
    • Vincent-Delorme, Catherine;
    • Thierry, Patrick;
    • Edwards, Matt;
    • König, Rainer;
    • Rusu, Cristina;
    • Schweiger, Susann;
    • Thompson, Elizabeth;
    • Tinschert, Sigrid;
    • Stewart, Fiona;
    • Wieacker, Peter
    Publication type:
    Article

  • Sensorineural hearing loss in OPA1-linked disorders.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 7, p. e236, doi. 10.1093/brain/aws340
    By:
    • Leruez, Stéphanie;
    • Milea, Dan;
    • Defoort-Dhellemmes, Sabine;
    • Colin, Estelle;
    • Crochet, Martine;
    • Procaccio, Vincent;
    • Ferré, Marc;
    • Lamblin, Julie;
    • Drouin, Valérie;
    • Vincent-Delorme, Catherine;
    • Lenaers, Guy;
    • Hamel, Christian;
    • Blanchet, Catherine;
    • Juul, Gitte;
    • Larsen, Michael;
    • Verny, Christophe;
    • Reynier, Pascal;
    • Amati-Bonneau, Patrizia;
    • Bonneau, Dominique
    Publication type:
    Article

  • Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.

    Published in:
    Human Mutation, 2020, v. 41, n. 12, p. 2167, doi. 10.1002/humu.24132
    By:
    • Liu, Hui;
    • Giguet‐Valard, Anna‐Gaëlle;
    • Simonet, Thomas;
    • Szenker‐Ravi, Emmanuelle;
    • Lambert, Laetitia;
    • Vincent‐Delorme, Catherine;
    • Scheidecker, Sophie;
    • Fradin, Mélanie;
    • Morice‐Picard, Fanny;
    • Naudion, Sophie;
    • Ciorna‐Monferrato, Viorica;
    • Colin, Estelle;
    • Fellmann, Florence;
    • Blesson, Sophie;
    • Jouk, Pierre‐Simon;
    • Francannet, Christine;
    • Petit, Florence;
    • Moutton, Sébastien;
    • Lehalle, Daphné;
    • Chassaing, Nicolas
    Publication type:
    Article

  • Expanding the KIF4A‐associated phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3728, doi. 10.1002/ajmg.a.62443
    By:
    • Kalantari, Silvia;
    • Carlston, Colleen;
    • Alsaleh, Norah;
    • Abdel‐Salam, Ghada M. H.;
    • Alkuraya, Fowzan;
    • Kato, Mitsuhiro;
    • Matsumoto, Naomichi;
    • Miyatake, Satoko;
    • Yamamoto, Tatsuya;
    • Fares‐Taie, Lucas;
    • Rozet, Jean‐Michel;
    • Chassaing, Nicolas;
    • Vincent‐Delorme, Catherine;
    • Kang‐Bellin, Anjeung;
    • McWalter, Kirsty;
    • Bupp, Caleb;
    • Palen, Emily;
    • Wagner, Monisa D.;
    • Niceta, Marcello;
    • Cesario, Claudia
    Publication type:
    Article

  • New intragenic rearrangements in non-Finnish mulibrey nanism.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2782, doi. 10.1002/ajmg.a.38381
    By:
    • Jobic, Florence;
    • Morin, Gilles;
    • Vincent‐Delorme, Catherine;
    • Cadet, Estelle;
    • Cabry, Rosalie;
    • Mathieu‐Dramard, Michèle;
    • Copin, Henri;
    • Rochette, Jacques;
    • Jedraszak, Guillaume
    Publication type:
    Article

  • WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1690, doi. 10.1002/ajmg.a.38206
    By:
    • 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
    Publication type:
    Article

  • Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1252, doi. 10.1002/ajmg.a.36932
    By:
    • El Khattabi, Laïla;
    • Jaillard, Sylvie;
    • Andrieux, Joris;
    • Pasquier, Laurent;
    • Perrin, Laurence;
    • Capri, Yline;
    • Benmansour, Abdelmadjid;
    • Toutain, Annick;
    • Marcorelles, Pascale;
    • Vincent‐Delorme, Catherine;
    • Journel, Hubert;
    • Henry, Catherine;
    • De Barace, Claire;
    • Devisme, Louise;
    • Dubourg, Christèle;
    • Demurger, Florence;
    • Lucas, Josette;
    • Belaud‐Rotureau, Marc‐Antoine;
    • Amiel, Jeanne;
    • Malan, Valérie
    Publication type:
    Article

  • Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 671, doi. 10.1002/ajmg.a.35747
    By:
    • Plaisancié, Julie;
    • Bailleul‐Forestier, Isabelle;
    • Gaston, Véronique;
    • Vaysse, Fréderic;
    • Lacombe, Didier;
    • Holder‐Espinasse, Muriel;
    • Abramowicz, Marc;
    • Coubes, Christine;
    • Plessis, Ghislaine;
    • Faivre, Laurence;
    • Demeer, Bénédicte;
    • Vincent‐Delorme, Catherine;
    • Dollfus, Hélène;
    • Sigaudy, Sabine;
    • Guillén‐Navarro, Encarna;
    • Verloes, Alain;
    • Jonveaux, Philippe;
    • Martin‐Coignard, Dominique;
    • Colin, Estelle;
    • Bieth, Eric
    Publication type:
    Article

  • Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 572, doi. 10.1002/ajmg.a.35691
    By:
    • Ghanim, Mustafa;
    • Rossignol, Sylvie;
    • Delobel, Bruno;
    • Irving, Melita;
    • Miller, Owen;
    • Devisme, Louise;
    • Plennevaux, Jean‐Louis;
    • Lucidarme‐Rossi, Sophie;
    • Manouvrier, Sylvie;
    • Salah, Azzi;
    • Chivu, Olimpia;
    • Netchine, Irène;
    • Vincent‐Delorme, Catherine
    Publication type:
    Article