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Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial.
Published in:
2021
By:
- Maruani, Annabel;
- Tavernier, Elsa;
- Boccara, Olivia;
- Mazereeuw-Hautier, Juliette;
- Leducq, Sophie;
- Bessis, Didier;
- Guibaud, Laurent;
- Vabres, Pierre;
- Carmignac, Virginie;
- Mallet, Stéphanie;
- Barbarot, Sébastien;
- Chiaverini, Christine;
- Droitcourt, Catherine;
- Bursztejn, Anne-Claire;
- Lengellé, Céline;
- Woillard, Jean-Baptiste;
- Herbreteau, Denis;
- Le Touze, Anne;
- Joly, Aline;
- Léauté-Labrèze, Christine
Publication type:
journal article
Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization.
Published in:
eLife, 2021, p. 1, doi. 10.7554/eLife.63545
By:
- Gori, Ilaria;
- George, Roger;
- Purkiss, Andrew G.;
- Strohbuecker, Stephanie;
- Randall, Rebecca A.;
- Ogrodowicz, Roksana;
- Carmignac, Virginie;
- Faivre, Laurence;
- Joshi, Dhira;
- Kjær, Svend;
- Hill, Caroline S.
Publication type:
Article
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 129, doi. 10.1002/ajmg.c.31766
By:
- Delplancq, Geoffroy;
- Tarris, Georges;
- Vitobello, Antonio;
- Nambot, Sophie;
- Sorlin, Arthur;
- Philippe, Christophe;
- Carmignac, Virginie;
- Duffourd, Yannis;
- Denis, Charlotte;
- Eicher, Jean Christophe;
- Chevarin, Martin;
- Millat, Gilles;
- Khallouk, Bouchra;
- Rousseau, Thierry;
- Falcon‐Eicher, Sylvie;
- Vasiljevic, Alexandre;
- Harizay, Fara T.;
- Thauvin‐Robinet, Christel;
- Faivre, Laurence;
- Kuentz, Paul
Publication type:
Article
Limb overgrowth associated with a mosaic TSC2 second‐hit in tuberous sclerosis complex.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2803, doi. 10.1002/ajmg.a.61811
By:
- Tessarech, Marine;
- Malinge, Marie‐Claire;
- Carmignac, Virginie;
- Vabres, Pierre;
- Petit, Florence
Publication type:
Article
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS 13 B mutations.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 522, doi. 10.1002/ajmg.a.36300
By:
- Gueneau, Lucie;
- Duplomb, Laurence;
- Sarda, Pierre;
- Hamel, Christian;
- Aral, Bernard;
- Chehadeh, Salima El;
- Gigot, Nadège;
- St‐Onge, Judith;
- Callier, Patrick;
- Thevenon, Julien;
- Huet, Frédéric;
- Carmignac, Virginie;
- Droin, Nathalie;
- Faivre, Laurence;
- Thauvin‐Robinet, Christel
Publication type:
Article
Cell-matrix interactions in muscle disease.
Published in:
Journal of Pathology, 2012, v. 226, n. 2, p. 200, doi. 10.1002/path.3020
By:
- Carmignac, Virginie;
- Durbeej, Madeleine
Publication type:
Article
Increased Neointimal Thickening in Dystrophin-Deficient mdx Mice.
Published in:
PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029904
By:
- Rauch, Uwe;
- Shami, Annelie;
- Feng Zhang;
- Carmignac, Virginie;
- Durbeej, Madeleine;
- Hultgårdh-Nilsson, Anna
Publication type:
Article
Distinct Roles for Laminin Globular Domains in Laminin α1 Chain Mediated Rescue of Murine Laminin α2 Chain Deficiency.
Published in:
PLoS ONE, 2010, v. 5, n. 7, p. 1, doi. 10.1371/journal.pone.0011549
By:
- Gawlik, Kinga I.;
- kerlund, Mikael A.;
- Carmignac, Virginie;
- Elamaa, Harri;
- Durbeej, Madeleine
Publication type:
Article
Porous protein-based scaffolds prepared through freezing as potential scaffolds for tissue engineering.
Published in:
Journal of Materials Science: Materials in Medicine, 2012, v. 23, n. 10, p. 2489, doi. 10.1007/s10856-012-4713-4
By:
- Elowsson, Linda;
- Kirsebom, Harald;
- Carmignac, Virginie;
- Durbeej, Madeleine;
- Mattiasson, Bo
Publication type:
Article
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Published in:
Human Genetics, 2020, v. 139, n. 4, p. 461, doi. 10.1007/s00439-019-02102-9
By:
- Arnaud, Pauline;
- Racine, Caroline;
- Hanna, Nadine;
- Thevenon, Julien;
- Alessandri, Jean-Luc;
- Bonneau, Dominique;
- Clayton-Smith, Jill;
- Coubes, Christine;
- Delobel, Bruno;
- Dupuis-Girod, Sophie;
- Gouya, Laurent;
- Odent, Sylvie;
- Carmignac, Virginie;
- Thauvin-Robinet, Christel;
- Le Goff, Carine;
- Jondeau, Guillaume;
- Boileau, Catherine;
- Faivre, Laurence
Publication type:
Article
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 1, p. 82, doi. 10.1038/ejhg.2012.116
By:
- Thevenon, Julien;
- Callier, Patrick;
- Andrieux, Joris;
- Delobel, Bruno;
- David, Albert;
- Sukno, Sylvie;
- Minot, Delphine;
- Mosca Anne, Laure;
- Marle, Nathalie;
- Sanlaville, Damien;
- Bonnet, Marlène;
- Masurel-Paulet, Alice;
- Levy, Fabienne;
- Gaunt, Lorraine;
- Farrell, Sandra;
- Le Caignec, Cédric;
- Toutain, Annick;
- Carmignac, Virginie;
- Mugneret, Francine;
- Clayton-Smith, Jill
Publication type:
Article
Effects of assisted reproductive technologies on transposon regulation in the mouse pre-implanted embryo.
Published in:
2019
By:
- Carmignac, Virginie;
- Barberet, Julie;
- Iranzo, Julian;
- Quéré, Ronan;
- Guilleman, Magali;
- Bourc'his, Déborah;
- Fauque, Patricia
Publication type:
journal article
Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking.
Published in:
Cellular & Molecular Life Sciences, 2020, v. 77, n. 3, p. 511, doi. 10.1007/s00018-019-03192-4
By:
- Da Costa, Romain;
- Bordessoules, Morgane;
- Guilleman, Magali;
- Carmignac, Virginie;
- Lhussiez, Vincent;
- Courot, Hortense;
- Bataille, Amandine;
- Chlémaire, Amandine;
- Bruno, Céline;
- Fauque, Patricia;
- Thauvin, Christel;
- Faivre, Laurence;
- Duplomb, Laurence
Publication type:
Article
Becker's Naevus Syndrome with Breast Aplasia Due to Postzygotic Mutation of ACTB.
Published in:
Acta Dermato-Venereologica, 2022, v. 102, p. 1, doi. 10.2340/actadv.v102.1141
By:
- RAMSPACHER, Jeanne;
- CARMIGNAC, Virginie;
- VABRES, Pierre;
- MAZEREEUW-HAUTIER, Juliette
Publication type:
Article
Allelic heterogeneity in a patient with postzygotic MTOR‐related hypomelanosis of Ito with neurodevelopmental abnormalities.
Published in:
Clinical Genetics, 2024, v. 105, n. 5, p. 581, doi. 10.1111/cge.14511
By:
- Engel, Camille;
- Chevarin, Martin;
- Piard, Juliette;
- Abad, Marine;
- Thomas, Quentin;
- Carmignac, Virginie;
- Duffourd, Yannis;
- Lemesle‐Martin, Martine;
- Tarris, Georges;
- Thauvin‐Robinet, Christel;
- Vabres, Pierre;
- Faivre, Laurence;
- Kuentz, Paul
Publication type:
Article
Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations.
Published in:
Clinical Genetics, 2023, v. 104, n. 5, p. 554, doi. 10.1111/cge.14410
By:
- Faivre, Laurence;
- Crépin, Jean‐Charles;
- Réda, Manon;
- Nambot, Sophie;
- Carmignac, Virginie;
- Abadie, Caroline;
- Mirault, Tristan;
- Faure‐Conter, Cécile;
- Mazereeuw‐Hautier, Juliette;
- Maza, Aude;
- Puzenat, Eve;
- Collonge‐Rame, Marie‐Agnès;
- Bursztejn, Anne‐Claire;
- Philippe, Christophe;
- Thauvin‐Robinet, Christel;
- Chevarin, Martin;
- Abasq‐Thomas, Claire;
- Amiel, Jeanne;
- Arpin, Stéphanie;
- Barbarot, Sébastien
Publication type:
Article
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
Published in:
Clinical Genetics, 2020, v. 98, n. 1, p. 43, doi. 10.1111/cge.13755
By:
- Carmignac, Virginie;
- Nambot, Sophie;
- Lehalle, Daphné;
- Callier, Patrick;
- Moortgat, Stephanie;
- Benoit, Valérie;
- Ghoumid, Jamal;
- Delobel, Bruno;
- Smol, Thomas;
- Thuillier, Caroline;
- Zordan, Cécile;
- Naudion, Sophie;
- Bienvenu, Thierry;
- Touraine, Renaud;
- Ramond, Francis;
- Zweier, Christiane;
- Reis, André;
- Kraus, Cornelia;
- Nizon, Mathilde;
- Cogné, Benjamin
Publication type:
Article
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
Published in:
2007
By:
- Carmignac V;
- Salih MA;
- Quijano-Roy S;
- Marchand S;
- Al Rayess MM;
- Mukhtar MM;
- Urtizberea JA;
- Labeit S;
- Guicheney P;
- Leturcq F;
- Gautel M;
- Fardeau M;
- Campbell KP;
- Richard I;
- Estournet B;
- Ferreiro A;
- Carmignac, Virginie;
- Salih, Mustafa A M;
- Quijano-Roy, Susana;
- Marchand, Sylvie
Publication type:
journal article
C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy.
Published in:
Annals of Neurology, 2007, v. 61, n. 4, p. 340, doi. 10.1002/ana.21089
By:
- Virginie Carmignac;
- Mustafa A. M. Salih;
- Susana Quijano‐Roy;
- Sylvie Marchand;
- Molham M. Al Rayess;
- Maowia M. Mukhtar;
- Jon A. Urtizberea;
- Siegfried Labeit;
- Pascale Guicheney;
- France Leturcq;
- Mathias Gautel;
- Michel Fardeau;
- Kevin P. Campbell;
- Isabelle Richard;
- Brigitte Estournet;
- Ana Ferreiro
Publication type:
Article
A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 23, p. 4680, doi. 10.1093/hmg/ddx349
By:
- Duplomb, Laurence;
- Droin, Nathalie;
- Bouchot, Olivier;
- Thauvin-Robinet, Christel;
- Bruel, Ange-Line;
- Thevenon, Julien;
- Callier, Patrick;
- Meurice, Guillaume;
- Pata-Merci, Noémie;
- Loffroy, Romaric;
- Vandroux, David;
- Costa, Romain D. A.;
- Carmignac, Virginie;
- Solary, Eric;
- Faivre, Laurence
Publication type:
Article
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 23, p. 6603, doi. 10.1093/hmg/ddv366
By:
- Limoge, Floriane;
- Faivre, Laurence;
- Gautier, Thomas;
- Petit, Jean-Michel;
- Gautier, Elodie;
- Masson, David;
- Jego, Gaëtan;
- El Chehadeh-Djebbar, Salima;
- Marle, Nathalie;
- Carmignac, Virginie;
- Deckert, Valérie;
- Brindisi, Marie-Claude;
- Edery, Patrick;
- Ghoumid, Jamal;
- Blair, Edward;
- Lagrost, Laurent;
- Thauvin-Robinet, Christel;
- Duplomb, Laurence
Publication type:
Article
Germline correction of an epimutation related to Silver-Russell syndrome.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 12, p. 3314, doi. 10.1093/hmg/ddv079
By:
- Bruno, Céline;
- Carmignac, Virginie;
- Netchine, Irène;
- Choux, Cécile;
- Duffourd, Yannis;
- Faivre, Laurence;
- Thauvin-Robinet, Christel;
- Le Bouc, Yves;
- Sagot, Paul;
- Bourc'his, Déborah;
- Fauque, Patricia
Publication type:
Article
Cohen syndrome is associated with major glycosylation defects.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 9, p. 2391, doi. 10.1093/hmg/ddt630
By:
- Duplomb, Laurence;
- Duvet, Sandrine;
- Picot, Damien;
- Jego, Gaëtan;
- El Chehadeh-Djebbar, Salima;
- Marle, Nathalie;
- Gigot, Nadège;
- Aral, Bernard;
- Carmignac, Virginie;
- Thevenon, Julien;
- Lopez, Estelle;
- Rivière, Jean-Baptiste;
- Klein, André;
- Philippe, Christophe;
- Droin, Nathalie;
- Blair, Edward;
- Girodon, François;
- Donadieu, Jean;
- Bellanné-Chantelot, Christine;
- Delva, Laurent
Publication type:
Article
Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 24, p. 4891, doi. 10.1093/hmg/ddr427
By:
- Carmignac, Virginie;
- Svensson, Martina;
- Körner, Zandra;
- Elowsson, Linda;
- Matsumura, Cintia;
- Gawlik, Kinga I.;
- Allamand, Valerie;
- Durbeej, Madeleine
Publication type:
Article
Laminin α1 domains LG4-5 are essential for the complete differentiation of visceral endoderm.
Published in:
Cell & Tissue Research, 2009, v. 338, n. 1, p. 129, doi. 10.1007/s00441-009-0845-3
By:
- Åkerlund, Mikael;
- Carmignac, Virginie;
- Schéele, Susanne;
- Durbeej, Madeleine
Publication type:
Article
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.
Published in:
Journal of Molecular Medicine, 2019, v. 97, n. 5, p. 633, doi. 10.1007/s00109-019-01754-4
By:
- Duplomb, Laurence;
- Rivière, Julie;
- Jego, Gaëtan;
- Da Costa, Romain;
- Hammann, Arlette;
- Racine, Jessica;
- Schmitt, Alain;
- Droin, Nathalie;
- Capron, Claude;
- Gougerot-Pocidalo, Marie-Anne;
- Dubrez, Laurence;
- Aral, Bernard;
- Lafon, Arnaud;
- Edery, Patrick;
- Ghoumid, Jamal;
- Blair, Edward;
- El Chehadeh-Djebbar, Salima;
- Carmignac, Virginie;
- Thevenon, Julien;
- Guy, Julien
Publication type:
Article
Proteasome inhibition improves the muscle of laminin α2 chain-deficient mice.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 3, p. 541, doi. 10.1093/hmg/ddq499
By:
- Carmignac, Virginie;
- Quéré, Ronan;
- Durbeej, Madeleine
Publication type:
Article
The placenta: phenotypic and epigenetic modifications induced by Assisted Reproductive Technologies throughout pregnancy.
Published in:
Clinical Epigenetics, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13148-015-0120-2
By:
- Choux, Cécile;
- Carmignac, Virginie;
- Bruno, Céline;
- Sagot, Paul;
- Vaiman, Daniel;
- Fauque, Patricia
Publication type:
Article

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