Researcher
Nathalie Fieremans
- Keywords:Biomedical sciences (incl. biochemistry)
Affiliations
- Human Genome Laboratory (Division)
Member
From1 Sep 2011 → 31 Dec 2015
Projects
1 - 1 of 1
- Gene identification in female patients with intellectual disability and skewed X-inactivation.From1 Sep 2011 → 31 Dec 2015Funding: IWT personal funding - strategic basic research grants
Publications
1 - 10 of 10
- Identification of Intellectual Disability Genes in Female Patients with A Skewed X Inactivation Pattern(2016)
Authors: Nathalie Fieremans, Hilde Van Esch, Koenraad Devriendt, Joris Vermeesch, Peter Marynen, Guy Froyen
Pages: 804 - 811 - Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features(2015)
Authors: Nathalie Fieremans, Hilde Van Esch, Thomy de Ravel de l'Argentière, Jozef Van Driessche, Stefanie Belet, Marijke Bauters, Guy Froyen
Pages: 324 - 7 - Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features(2015)
Authors: Nathalie Fieremans, Hilde Van Esch, Thomy de Ravel de l'Argentière, Marijke Bauters, Guy Froyen
Pages: 324 - 7 - Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia(2015)
Authors: Paul Brady, Hilde Van Esch, Nathalie Fieremans, Guy Froyen, Jan Deprest, Koenraad Devriendt, Joris Vermeesch
Pages: 551 - 4 - Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality(2014)
Authors: Nathalie Fieremans, Hilde Van Esch, Guy Froyen
Pages: 350 - 355 - Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains(2014)
Authors: Lieselot Vanmarsenille, Maila Giannandrea, Nathalie Fieremans, Jelle Verbeeck, Stefanie Belet, Martine Raynaud, Annick Vogels, Katrin Männik, Katrin Ounap, Vigneron Jacqueline, et al.
Pages: 384 - 391 - Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains(2014)
Authors: Lieselot Vanmarsenille, Nathalie Fieremans, Annick Vogels, Hilde Van Esch, Guy Froyen
Pages: 384 - 391 - Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome(2013)
Authors: Nathalie Fieremans, Guy Froyen
Pages: 745 - 53 - The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability(2013)
Authors: Marijke Bauters, Hilde Van Esch, Nathalie Fieremans, Koenraad Devriendt, Jean-Pierre Frijns, Peter Marynen, Guy Froyen
Pages: 1177 - 85 - HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability(2013)
Authors: Mala Isrie, Nathalie Fieremans, Hilde Van Esch, Koenraad Devriendt
Pages: 379 - 82