R
Robert M. W. Hofstra
Researcher at University of Groningen
Publications - 13
Citations - 5617
Robert M. W. Hofstra is an academic researcher from University of Groningen. The author has contributed to research in topics: Germline mutation & MLH1. The author has an hindex of 13, co-authored 13 publications receiving 5399 citations. Previous affiliations of Robert M. W. Hofstra include Mayo Clinic & University Medical Center Groningen.
Papers
More filters
Journal ArticleDOI
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
Robert M. W. Hofstra,R.M. Landsvater,Isabella Ceccherini,Rein P. Stulp,T. Stelwagen,Yin Luo,Barbara Pasini,Jo W.M. Höppener,Hans Kristian Ploos van Amstel,Giovanni Romeo,Cornells J. M. Lips,Charles H.C.M. Buys +11 more
TL;DR: It is shown that MEN 2B is also associated with mutation of the RET proto-oncogene, and a mutation in codon 664, causing the substitution of a threonine for a methionine in the tyrosine kinase domain of the protein, was found in all nine unrelated men 2B patients studied.
Journal ArticleDOI
Evidence based selection of housekeeping genes
Hendrik J. M. de Jonge,Rudolf S N Fehrmann,Eveline S. J. M. de Bont,Robert M. W. Hofstra,Frans Gerbens,Willem A. Kamps,Elisabeth G.E. de Vries,Ate G.J. van der Zee,Gerard J. te Meerman,Arja ter Elst +9 more
TL;DR: Novel candidate housekeeping genes (e.g. RPS13, RPL27, RPS20 and OAZ1) with enhanced stability among a multitude of different cell types and varying experimental conditions are shown.
Journal ArticleDOI
Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide
Bridget Wilcken,Fiona Bamforth,Zhu Li,H. Zhu,Annukka Ritvanen,M. Redlund,Claude Stoll,Yves Alembik,Beatrice Dott,Andrew E. Czeizel,Z. Gelman-Kohan,Gioacchino Scarano,S Bianca,G. Ettore,Romano Tenconi,S. Bellato,Iris Scala,Osvaldo M. Mutchinick,M. Lopez,H. E. K. De Walle,Robert M. W. Hofstra,L. Joutchenko,L. Kavteladze,Eva Bermejo,María Luisa Martínez-Frías,Margaret Gallagher,J D Erickson,Stein Emil Vollset,Pierpaolo Mastroiacovo,Generoso Andria,Lorenzo D. Botto +30 more
TL;DR: The aim was to supplement the available data by collecting a large and diverse sample of newborns from different geographical areas and ethnic groups, and to examine international variations in the distribution of the 677C>T allele.
Journal ArticleDOI
Familial endometrial cancer in female carriers of MSH6 germline mutations
Juul T. Wijnen,W. J. F. De Leeuw,Hans F. A. Vasen,H. van der Klift,Pål Møller,Astrid Stormorken,Hanne Meijers-Heijboer,Dick Lindhout,Fred H. Menko,S Vossen,G Moslein,Carli M. J. Tops,A Brocker-Vriends,Ying Wu,Robert M. W. Hofstra,Rolf H. Sijmons,Cees J. Cornelisse,Hans Morreau,Riccardo Fodde +18 more
TL;DR: Hereditary non-polyposis colorectal cancer was shown to be caused by germline mutations in the DNA mismatch repair genes MSH2, MLH1, PMS1,PMS2 and MSH6, and many HNPCC families do not fully comply with the clinical Amsterdam criteria, and the causative mutations are unknown.
Journal ArticleDOI
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
Patrick Edery,T Attié,Jeanne Amiel,Anna Pelet,Charis Eng,Robert M. W. Hofstra,Helene Martelli,Christelle Bidaud,Arnold Munnich,Stanislas Lyonnet +9 more
TL;DR: A homozygous substitution/deletion mutation of the EDA/3 gene is reported in a WS-HSCR patient, supporting the view that the endothelin-signaling pathways play a major role in the development of neural crests.