J. P. Fryns
Katholieke Universiteit Leuven
554 Papers
6.6K Citations
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. Previous affiliations of J. P. Fryns include Flanders Institute for Biotechnology.
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Papers
•Journal Article
8p trisomy in a malformed foetus
TL;DR: A 20-week-old foetus with 8p trisomy, as the unbalanced product of a maternal 7q/8p translocation (karyotype: 46,XX,t(7;8)(q34,p12) is reported), and histologic examination revealed a "neuroblastoma in situ".
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•Journal Article
Costello syndrome : a postnatal growth retardation syndrome with distinct phenotype
TL;DR: Two non-related patients are described, a 12-year-old girl and 3 6/12- year-old boy, with Costello syndrome, a true MCA/MR syndrome with severe postnatal growth retardation as the first clinical sign.
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Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation.
TL;DR: A girl with mental retardation and multiple minor anomalies was found to have a complex chromosome 9p re‐arrangement comprising a deleted, translocated Y chromosome, a deletion of the sex reversal gene region (DMRT1) at 9p, together with an inverted duplication of the more proximal part of 9p.
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•Journal Article
Cognitive correlates of mathematical disabilities in children with velo-cardio-facial syndrome
B. De Smedt,Ann Swillen,K Devriendt,J. P. Fryns,Lieven Verschaffel,Bart Boets,Pol Ghesquière +6 more
TL;DR: The administered general cognitive competencies could not give a satisfactory account of the MD in VCFS, and various mathematical abilities, working memory, rapid automatized naming and processing speed were examined.
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Further evidence for the location of the BPES gene at 3q2.
TL;DR: The abnormalities in chromosome 8 in smooth muscle tumours described so far involve both numerical and structural abnormalities and concern both benign and malignant tumours.
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