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3q29 duplications: A cohort of 46 patients and a literature review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63531
By:
- Massier, Marie;
- Doco‐Fenzy, Martine;
- Egloff, Matthieu;
- Le Guillou, Xavier;
- Le Guyader, Gwenaël;
- Redon, Sylvia;
- Benech, Caroline;
- Le Millier, Karine;
- Uguen, Kevin;
- Ropars, Juliette;
- Sacaze, Elise;
- Audebert‐Bellanger, Séverine;
- Apetrei, Andreea;
- Molin, Arnaud;
- Gruchy, Nicolas;
- Vincent‐Devulder, Aline;
- Spodenkiewicz, Marta;
- Jacquin, Clémence;
- Loron, Gauthier;
- Thibaud, Marie
Publication type:
Article
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63457
By:
- Bourgois, Alexia;
- Bizaoui, Varoona;
- Colson, Cindy;
- Vincent‐Devulder, Aline;
- Molin, Arnaud;
- Gérard, Marion;
- Gruchy, Nicolas
Publication type:
Article
The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype.
Published in:
Frontiers in Neuroscience, 2023, v. 17, p. 1, doi. 10.3389/fnins.2023.1123784
By:
- Dobrigna, Manon;
- Poëa-Guyon, Sandrine;
- Rousseau, Véronique;
- Vincent, Aline;
- Toutain, Annick;
- Barnier, Jean-Vianney
Publication type:
Article
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
Published in:
Journal of Clinical Immunology, 2021, v. 41, n. 5, p. 958, doi. 10.1007/s10875-021-00985-w
By:
- Fusaro, Mathieu;
- Vincent, Aline;
- Castelle, Martin;
- Rosain, Jérémie;
- Fournier, Benjamin;
- Veiga-da-Cunha, Maria;
- Kentache, Takfarinas;
- Serre, Jill;
- Fallet-Bianco, Catherine;
- Delezoide, Anne-Lise;
- Renesme, Laurent;
- Picard, Fanny Morice;
- Lasseaux, Eulalie;
- Aladjidi, Nathalie;
- Seta, Nathalie;
- Cormier-Daire, Valérie;
- Schaftingen, Emile van;
- Neven, Bénédicte;
- Moshous, Despina;
- Blesson, Sophie
Publication type:
Article

Found: 4

3q29 duplications: A cohort of 46 patients and a literature review.

Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.

The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype.

Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.