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Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
Published in:
EMBO Molecular Medicine, 2020, v. 12, n. 7, p. 1, doi. 10.15252/emmm.201911861
By:
- Kröll‐Hermi, Ariane;
- Ebstein, Frédéric;
- Stoetzel, Corinne;
- Geoffroy, Véronique;
- Schaefer, Elise;
- Scheidecker, Sophie;
- Bär, Séverine;
- Takamiya, Masanari;
- Kawakami, Koichi;
- Zieba, Barbara A;
- Studer, Fouzia;
- Pelletier, Valerie;
- Eyermann, Carine;
- Speeg‐Schatz, Claude;
- Laugel, Vincent;
- Lipsker, Dan;
- Sandron, Florian;
- McGinn, Steven;
- Boland, Anne;
- Deleuze, Jean‐François
Publication type:
Article
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8729, doi. 10.3390/ijms24108729
By:
- Karam, Adella;
- Delvallée, Clarisse;
- Estrada-Cuzcano, Alejandro;
- Geoffroy, Véronique;
- Lamouche, Jean-Baptiste;
- Leuvrey, Anne-Sophie;
- Nourisson, Elsa;
- Tarabeux, Julien;
- Stoetzel, Corinne;
- Scheidecker, Sophie;
- Porter, Louise Frances;
- Génin, Emmanuelle;
- Redon, Richard;
- Sandron, Florian;
- Boland, Anne;
- Deleuze, Jean-François;
- Le May, Nicolas;
- Dollfus, Hélène;
- Muller, Jean
Publication type:
Article
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.
Published in:
Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00504
By:
- Laugel-Haushalter, Virginie;
- Bär, Séverine;
- Schaefer, Elise;
- Stoetzel, Corinne;
- Geoffroy, Véronique;
- Alembik, Yves;
- Kharouf, Naji;
- Huckert, Mathilde;
- Hamm, Pauline;
- Hemmerlé, Joseph;
- Manière, Marie-Cécile;
- Friant, Sylvie;
- Dollfus, Hélène;
- Bloch-Zupan, Agnès
Publication type:
Article
Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Published in:
2016
By:
- Bloch-Zupan, Agnès;
- Huckert, Mathilde;
- Stoetzel, Corinne;
- Meyer, Julia;
- Geoffroy, Véronique;
- Razafindrakoto, Rabisoa W.;
- Ralison, Saholy N.;
- Randrianaivo, Jean-Claude;
- Ralison, Georgette;
- Andriamasinoro, Rija O.;
- Ramanampamaharana, Rija H.;
- Randrianazary, Solofomanantsoa E.;
- Ralimanana, Louise H.;
- Richard, Béatrice;
- Gorry, Philippe;
- Manière, Marie-Cécile;
- Rasoamananjara, Jeanne A.;
- Alson, Simone Rakoto;
- Dollfus, Hélène
Publication type:
Correction Notice
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Published in:
Frontiers in Physiology, 2016, p. 1, doi. 10.3389/fphys.2016.00070
By:
- Bloch-Zupan, Agnès;
- Huckert, Mathilde;
- Stoetzel, Corinne;
- Meyer, Julia;
- Geoffroy, Véronique;
- Razafindrakoto, Rabisoa W.;
- Ralison, Saholy N.;
- Randrianaivo, Jean-Claude;
- Ralison, Georgette;
- Andriamasinoro, Rija O.;
- Ramanampamaharana, Rija H.;
- Randrianazary, Solofomanantsoa E.;
- Richard, Béatrice;
- Gorry, Philippe;
- Manière, Marie-Cécile;
- Alson, Simone Rakoto;
- Dollfus, Hélène;
- Remboutsika, Eumorphia;
- Gritli-Linde, Amel;
- Orsini, Giovanna
Publication type:
Article
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi.
Published in:
Nature Communications, 2016, v. 7, n. 11, p. 13586, doi. 10.1038/ncomms13586
By:
- Stoetzel, Corinne;
- Bär, Séverine;
- De Craene, Johan-Owen;
- Scheidecker, Sophie;
- Etard, Christelle;
- Chicher, Johana;
- Reck, Jennifer R.;
- Perrault, Isabelle;
- Geoffroy, Véronique;
- Chennen, Kirsley;
- Strähle, Uwe;
- Hammann, Philippe;
- Friant, Sylvie;
- Dollfus, Hélène
Publication type:
Article
Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 206, doi. 10.1111/cge.13972
By:
- El Chehadeh, Salima;
- Legrand, Anne;
- Stoetzel, Corinne;
- Geoffroy, Véronique;
- Billon, Clarisse;
- Adham, Salma;
- Jeunemaître, Xavier;
- Jaussaud, Roland;
- Muller, Jean;
- Schaefer, Elise;
- Benistan, Karelle;
- Gaertner, Sébastien;
- Bloch‐Zupan, Agnès;
- Courval, Aymeric;
- Manière, Marie‐Cécile;
- Petit, Catherine;
- Bursztejn, Anne‐Claire;
- Bal, Laurence;
- Reyre, Anthony;
- Chammas, Agathe
Publication type:
Article
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome.
Published in:
Clinical Genetics, 2021, v. 99, n. 2, p. 318, doi. 10.1111/cge.13878
By:
- Delvallée, Clarisse;
- Nicaise, Samuel;
- Antin, Manuela;
- Leuvrey, Anne‐Sophie;
- Nourisson, Elsa;
- Leitch, Carmen C.;
- Kellaris, Georgios;
- Stoetzel, Corinne;
- Geoffroy, Véronique;
- Scheidecker, Sophie;
- Keren, Boris;
- Depienne, Christel;
- Klar, Joakim;
- Dahl, Niklas;
- Deleuze, Jean‐François;
- Génin, Emmanuelle;
- Redon, Richard;
- Demurger, Florence;
- Devriendt, Koenraad;
- Mathieu‐Dramard, Michèle
Publication type:
Article
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome.
Published in:
2019
By:
- Schaefer, Elise;
- Delvallée, Clarisse;
- Mary, Laura;
- Stoetzel, Corinne;
- Geoffroy, Véronique;
- Marks-Delesalle, Caroline;
- Holder-Espinasse, Muriel;
- Ghoumid, Jamal;
- Dollfus, Hélène;
- Muller, Jean
Publication type:
Case Study
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 11, p. 3038, doi. 10.1093/hmg/ddv053
By:
- Huckert, Mathilde;
- Stoetzel, Corinne;
- Supawich Morkmued;
- Laugel-Haushalter, Virginie;
- Geoffroy, Véronique;
- Muller, Jean;
- Clauss, François;
- Prasad, Megana K.;
- Obry, Frédéric;
- Raymond, Jean Louis;
- Switala, Marzena;
- Alembik, Yves;
- Soskin, Sylvie;
- Mathieu, Eric;
- Hemmerlé, Joseph;
- Weickert, Jean-Luc;
- Dabovic, Branka Brukner;
- Rifkin, Daniel B.;
- Dheedene, Annelies;
- Boudin, Eveline
Publication type:
Article
The AnnotSV webserver in 2023: updated visualization and ranking.
Published in:
Nucleic Acids Research, 2023, v. 51, n. W1, p. W39, doi. 10.1093/nar/gkad426
By:
- Geoffroy, Véronique;
- Lamouche, Jean-Baptiste;
- Guignard, Thomas;
- Nicaise, Samuel;
- Kress, Arnaud;
- Scheidecker, Sophie;
- Le Béchec, Antony;
- Muller, Jean
Publication type:
Article
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis.
Published in:
Nucleic Acids Research, 2021, v. 49, n. W1, p. W21, doi. 10.1093/nar/gkab402
By:
- Geoffroy, Véronique;
- Guignard, Thomas;
- Kress, Arnaud;
- Gaillard, Jean-Baptiste;
- Solli-Nowlan, Tor;
- Schalk, Audrey;
- Gatinois, Vincent;
- Dollfus, Hélène;
- Scheidecker, Sophie;
- Muller, Jean
Publication type:
Article
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 240, doi. 10.1002/humu.23924
By:
- Estrada‐Cuzcano, Alejandro;
- Etard, Christelle;
- Delvallée, Clarisse;
- Stoetzel, Corinne;
- Schaefer, Elise;
- Scheidecker, Sophie;
- Geoffroy, Véronique;
- Schneider, Aline;
- Studer, Fouzia;
- Mattioli, Francesca;
- Chennen, Kirsley;
- Sigaudy, Sabine;
- Plassard, Damien;
- Poch, Olivier;
- Piton, Amélie;
- Strahle, Uwe;
- Muller, Jean;
- Dollfus, Hélène
Publication type:
Article
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. 1826, doi. 10.1002/humu.23799
By:
- Scheidecker, Sophie;
- Bär, Séverine;
- Stoetzel, Corinne;
- Geoffroy, Véronique;
- Lannes, Béatrice;
- Rinaldi, Bruno;
- Fischer, Frédéric;
- Becker, Hubert D.;
- Pelletier, Valérie;
- Pagan, Cécile;
- Acquaviva‐Bourdain, Cécile;
- Kremer, Stéphane;
- Mirande, Marc;
- Tranchant, Christine;
- Muller, Jean;
- Friant, Sylvie;
- Dollfus, Hélène
Publication type:
Article
Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Published in:
Human Mutation, 2018, v. 39, n. 7, p. 983, doi. 10.1002/humu.23539
By:
- Geoffroy, Véronique;
- Stoetzel, Corinne;
- Scheidecker, Sophie;
- Schaefer, Elise;
- Perrault, Isabelle;
- Bär, Séverine;
- Kröll, Ariane;
- Delbarre, Marion;
- Antin, Manuela;
- Leuvrey, Anne‐Sophie;
- Henry, Charline;
- Blanché, Hélène;
- Decker, Eva;
- Kloth, Katja;
- Klaus, Günter;
- Mache, Christoph;
- Martin‐Coignard, Dominique;
- McGinn, Steven;
- Boland, Anne;
- Deleuze, Jean‐François
Publication type:
Article
Rights, Standards and Quality in a Complex Humanitarian Space: Is Sphere the Right Tool?
Published in:
Disasters, 2004, v. 28, n. 2, p. 124, doi. 10.1111/j.0361-3666.2004.00248.x
By:
- Dufour, Charlotte;
- de Geoffroy, Véronique;
- Maury, Hugues;
- Grünewald, François
Publication type:
Article
AnnotSV: an integrated tool for structural variations annotation.
Published in:
Bioinformatics, 2018, v. 34, n. 20, p. 3572, doi. 10.1093/bioinformatics/bty304
By:
- Geoffroy, Véronique;
- Herenger, Yvan;
- Kress, Arnaud;
- Stoetzel, Corinne;
- Piton, Amélie;
- Dollfus, Hélène;
- Muller, Jean
Publication type:
Article

Found: 17