J
J. P. Fryns
Researcher at Katholieke Universiteit Leuven
Publications - 554
Citations - 14200
J. P. Fryns is an academic researcher from Katholieke Universiteit Leuven. The author has contributed to research in topics: Trisomy & Chromosomal translocation. The author has an hindex of 54, co-authored 554 publications receiving 13810 citations. Previous affiliations of J. P. Fryns include Flanders Institute for Biotechnology.
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Journal ArticleDOI
GATA3 haplo-insufficiency causes human HDR syndrome.
H Van Esch,Peter M.A. Groenen,M A Nesbit,Simone Schuffenhauer,Peter Lichtner,Gert Vanderlinden,Brian Harding,Rolf Beetz,Rudolf W. Bilous,Ian M. Holdaway,Nick Shaw,J. P. Fryns,W.J.M. Van de Ven,Rajesh V. Thakker,Koenraad Devriendt +14 more
TL;DR: The results show that GATA3 is essential in the embryonic development of the parathyroids, auditory system and kidneys, and indicate that other GATA family members may be involved in the aetiology of human malformations.
Journal Article
Neurofibromatosis type 1
TL;DR: In this paper, the authors reviewed the clinical and molecular aspects of neurofibromatosis type 1 (NF1) and found that the NF1 gene acts as a true tumor suppressor gene and that oncogenesis in NF1 is a complex multistep phenomenon with the second hit in the NF 1 gene as the initiating event.
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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
Björn Menten,N Maas,Bernard Thienpont,Karen Buysse,Jo Vandesompele,C Melotte,T. De Ravel,S Van Vooren,Irina Balikova,L. Backx,Sophie Janssens,A. De Paepe,B. De Moor,Yves Moreau,Peter Marynen,J. P. Fryns,Geert Mortier,K Devriendt,Franki Speleman,Joris Vermeesch +19 more
TL;DR: Array CGH should be considered an essential aspect of the genetic analysis of patients with MCA/MR, and in the present study three patients were mosaic for a structural chromosome rearrangement, showing that array CGH allows detection of low grade mosaicisims.
Journal ArticleDOI
Mutations in ARHGEF6 , encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
Kerstin Kutsche,Helger G. Yntema,A. Brandt,I. Jantke,Hans Gerd Nothwang,Ulrike Orth,M.G. Boavida,D. David,Jamel Chelly,J. P. Fryns,Claude Moraine,H.H. Ropers,B.C.J. Hamel,J.H.L.M. van Bokhoven,Andreas Gal +14 more
TL;DR: The identification of a new MRX gene, ARHGEF6 (also known as αPIX or Cool-2), encoding a protein with homology to guanine nucleotide exchange factors for Rho GTPases (Rho GEF).
Journal ArticleDOI
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
Alain Carrié,Lin Jun,Thierry Bienvenu,M C Vinet,N. McDonell,Philippe Couvert,Ramzi Zemni,A. Cardona,G Van Buggenhout,G Van Buggenhout,S Frints,B.C.J. Hamel,Claude Moraine,Hans-Hilger Ropers,T.M. Strom,Gareth R. Howell,Adam Whittaker,Mark T. Ross,Axel Kahn,J. P. Fryns,Cherif Beldjord,Peter Marynen,Jamel Chelly +22 more
TL;DR: It is demonstrated here the importance of interleukin signalling pathways in cognitive function and the normal physiology of the CNS and the identification of a new gene expressed in brain that is responsible for a non-specific form of X-linked mental retardation.