Onderzoeker
Jean-Pierre Frijns
- Disciplines:Medische beeldvorming en therapie, Andere paramedische wetenschappen, Genetica, Systeembiologie, Moleculaire en celbiologie
Affiliaties
- Departement Menselijke Erfelijkheid (Departement)
Lid
Vanaf1 okt 1999 → 30 sep 2016
Projecten
1 - 1 of 1
- COPHESVanaf1 dec 2009 → 30 nov 2012Financiering: Algemene activiteiten (annex IV)
Publicaties
1 - 10 van 169
- Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder(2019)
Auteurs: Molka Kammoun, Jean-Pierre Frijns, Joris Vermeesch, Koenraad Devriendt
Pagina's: 1748 - 1768 - ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder(2018)
Auteurs: Nele Cosemans, Laura Vandenhove, Jarymke Maljaars, Hilde Van Esch, Koenraad Devriendt, Jean-Pierre Frijns, Ilse Noens, Hilde Peeters
Pagina's: 376 - 383 - Delusional and psychotic disorders in Juvenile Myotonic dystrophy Type-1(2017)
Auteurs: Delphine Jacobs, Jean-Pierre Frijns, Jean Steyaert
Pagina's: 359 - 366 - Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?(2016)
Auteurs: Jean-Pierre Frijns
Pagina's: 94 - 102 - X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2016)
Auteurs: Hilde Van Esch, Guy Froyen, Jean-Pierre Frijns, Koenraad Devriendt
Pagina's: 133 - 48 - L1CAM and X-linked Hydrocephalus (L1 syndrome)(2016)
Auteurs: Jean-Pierre Frijns
Pagina's: 957 - 969 - Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia)(2015)
Auteurs: Jean-Pierre Frijns
- Tetralogy of Fallot with coronary artery to pulmonary artery fistula(2014)
Auteurs: Ingrid Witters, Jean-Pierre Frijns, Marcella Baldewijns
Pagina's: 1345 - 6 - Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects(2014)
Auteurs: Marijke Bauters, Hilde Van Esch, Marcella Baldewijns, Jean-Pierre Frijns, Peter Marynen, Guy Froyen
Pagina's: 1947 - 52 - A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors(2014)
Auteurs: Paul Brady, Gabrielle Christenhusz, Kris Dierickx, Kris Van Den Bogaert, Luc De Catte, Jan Deprest, Thomy de Ravel de l'Argentière, Hilde Van Esch, Jean-Pierre Frijns, Koenraad Devriendt, et al.
Pagina's: 469 - 76