J
Johan J.P. Gille
Researcher at VU University Medical Center
Publications - 104
Citations - 7425
Johan J.P. Gille is an academic researcher from VU University Medical Center. The author has contributed to research in topics: Germline mutation & Cancer. The author has an hindex of 40, co-authored 101 publications receiving 6890 citations. Previous affiliations of Johan J.P. Gille include VU University Amsterdam & University of Amsterdam.
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Journal ArticleDOI
Frequency and Spectrum of Cancers in the Peutz-Jeghers Syndrome
N Hearle,Valérie Schumacher,Fred H. Menko,Sylviane Olschwang,Lisa A. Boardman,Johan J.P. Gille,J J Keller,Anne Marie Westerman,Rodney J. Scott,Wendy Lim,Jill D. Trimbath,Francis M. Giardiello,Stephen B. Gruber,G. Johan A. Offerhaus,Felix W. M. de Rooij,J. H. Paul Wilson,Anika Hansmann,Gabriela Möslein,Brigitte Royer-Pokora,Tilman Vogel,Robin K. S. Phillips,Allan D. Spigelman,Richard S. Houlston +22 more
TL;DR: Cancer risks were similar in Peutz-Jeghers syndrome patients with identified STK11/LKB1 mutations and those with no detectable mutation (log-rank test of difference χ2; 1 df; P = 0.43), and the type or site of STK 11/L KB1 mutation did not significantly influence cancer risk.
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Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer
Jurgen M.J. Piek,P. J. Van Diest,Ronald P. Zweemer,J W Jansen,Ria J.J. Poort-Keesom,Fred H. Menko,Johan J.P. Gille,A P M Jongsma,Gerard Pals,Peter Kenemans,R Verheijen +10 more
TL;DR: The Fallopian tubes of women predisposed to developing ovarian cancer frequently harbour dysplastic changes, accompanied by changes in cell‐cycle and apoptosis‐related proteins, indicating an increased risk of developing tubal cancer.
Journal ArticleDOI
The Cowden syndrome: a clinical and genetic study in 21 patients
Th. M. Starink,J. P. W. van der Veen,Fré Arwert,L. P. de Waal,G. G. de Lange,Johan J.P. Gille,A. W. Eriksson +6 more
TL;DR: An analysis of the findings in 21 patients with the Cowden syndrome or the multiple hamartoma syndrome finds craniomegaly (high head circumference) was found to be the most common extracutaneous manifestation, while the incidence of thyroid abnormalities was similar to that reported previously.
Journal ArticleDOI
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA
J R Foe,Martin A. Rooimans,Bosnoyan-Collins L,Noa Alon,Mario Wijker,Linda Parker,Jeff Lightfoot,Madeleine Carreau,David F. Callen,Anna Savoia,Ngan Ching Cheng,C.G.M. van Berkel,M H Strunk,Johan J.P. Gille,Gerard Pals,Frank A.E. Kruyt,Jan C. Pronk,Fré Arwert,Manuel Buchwald,Hans Joenje +19 more
TL;DR: The isolation of a cDNA representing the FAA gene is reported, following an expression cloning method similar to the one used to clone the FAC gene.
Journal Article
Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method
Frans B. L. Hogervorst,Petra M. Nederlof,Johan J.P. Gille,Cathal J. McElgunn,Maartje Grippeling,Roelof Pruntel,Rein Regnerus,Tibor van Welsem,Resie van Spaendonk,Fred H. Menko,Irma Kluijt,Charlotte J. Dommering,Senno Verhoef,Jan P. Schouten,Laura J. van't Veer,Gerard Pals +15 more
TL;DR: A novel method to detect single or multiple exon deletions and amplifications in the BRCA1 gene, called multiplex ligation-dependent probe amplification (MLPA), ensures a sensitive and comprehensive high-throughput screening test for genomic rearrangement.