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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
Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders.
Published in:
Arthritis & Rheumatology, 2014, v. 66, n. 9, p. 2621, doi. 10.1002/art.38727
By:
- Jéru, Isabelle;
- Cochet, Emmanuelle;
- Duquesnoy, Philippe;
- Hentgen, Véronique;
- Copin, Bruno;
- Mitjavila‐Garcia, Maria Teresa;
- Sheykholeslami, Shayan;
- Le Borgne, Gaëlle;
- Dastot‐Le Moal, Florence;
- Malan, Valérie;
- Karabina, Sonia;
- Mahevas, Mathieu;
- Chantot‐Bastaraud, Sandra;
- Lecron, Jean‐Claude;
- Faivre, Laurence;
- Amselem, Serge
Publication type:
Article
Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 776, doi. 10.1002/humu.23005
By:
- Jeanson, Ludovic;
- Thomas, Lucie;
- Copin, Bruno;
- Coste, André;
- Sermet‐Gaudelus, Isabelle;
- Dastot‐Le Moal, Florence;
- Duquesnoy, Philippe;
- Montantin, Guy;
- Collot, Nathalie;
- Tissier, Sylvie;
- Papon, Jean‐François;
- Clement, Annick;
- Louis, Bruno;
- Escudier, Estelle;
- Amselem, Serge;
- Legendre, Marie
Publication type:
Article
Review and update of mutations causing Waardenburg syndrome.
Published in:
2010
By:
- Pingault, Véronique;
- Ente, Dorothée;
- Dastot-Le Moal, Florence;
- Goossens, Michel;
- Marlin, Sandrine;
- Bondurand, Nadège
Publication type:
Other
ZFHX1B mutations in patients with Mowat-Wilson syndrome.
Published in:
Human Mutation, 2007, v. 28, n. 4, p. 313, doi. 10.1002/humu.20452
By:
- Dastot-Le Moal, Florence;
- Wilson, Meredith;
- Mowat, David;
- Collot, Nathalie;
- Niel, Florence;
- Goossens, Michel
Publication type:
Article
De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder.
Published in:
Arthritis & Rheumatology, 2023, v. 75, n. 3, p. 468, doi. 10.1002/art.42354
By:
- Louvrier, Camille;
- El Khouri, Elma;
- Grall Lerosey, Martine;
- Quartier, Pierre;
- Guerrot, Anne‐Marie;
- Bader Meunier, Brigitte;
- Chican, Julie;
- Mohammad, Malaïka;
- Assrawi, Eman;
- Daskalopoulou, Aphrodite;
- Arenas Garcia, Angela;
- Copin, Bruno;
- Piterboth, William;
- Dastot Le Moal, Florence;
- Karabina, Sonia A.;
- Amselem, Serge;
- Giurgea, Irina
Publication type:
Article

Found: 6

Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.

Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders.

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

Review and update of mutations causing Waardenburg syndrome.

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder.