Charles H.C.M. Buys - Concepedia

Author

Charles H.C.M. Buys

Also Known As

C Buys, C H Buys, C H C M Buys, C. H. C. M. Buys, C. H.C.M. Buys, C.H.C.M Buys, C.H.C.M. Buys, Charles Buys, Charles H. Buys, Charles H. C. M. Buys

196

Publications

9.4K

Citations

H-Index

143

Concepts

All Affiliations

University of Groningen University Medical Center Groningen Radboud University Nijmegen

About

Charles H.C.M. Buys is an author at University of Groningen specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Law	2	2	55
2	Business	1	1	21
3	Education	1	1	31
4	Engineering	1	1	28
5	Health Sciences	1	1	29

Charles H.C.M. Buys

Publications

8.4K

Citations

H-Index

Page 1

	Year	Citations
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma Robert M.W. Hofstra, Rudy M. Landsvater, Isabella Ceccherini, Nature Endocrine OncologyOncogenic AgentGeneticsThyroid DiseasePathology	1994	1.2K
In Vitro Fertilization with Preimplantation Genetic Screening Sebastiaan Mastenbroek, Moniek Twisk, Jannie van Echten‐Arends, New England Journal of Medicine	2007	780
Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer Klaas Kok, Jan Osinga, B. Carritt, Nature ChromatinGenome InstabilityMedicineGeneticsChromosomal Region 3P21	1987	394
Association of Hereditary Nonpolyposis Colorectal Cancer–Related Tumors Displaying Low Microsatellite Instability with MSH6 Germline Mutations Ying Wu, Maran J.W. Berends, Rob G.J. Mensink, The American Journal of Human Genetics Cancer PathologyMedicineGeneticsGenetic EpidemiologyPathology	1999	308
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) Robert M.W. Hofstra, Jan Osinga, Gita Tan-Sindhunata, Nature Genetics Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic Epidemiology	1996	298
Molecular and Clinical Characteristics of MSH6 Variants: An Analysis of 25 Index Carriers of a Germline Variant Maran J.W. Berends, Ying Wu, Rolf H. Sijmons, The American Journal of Human Genetics Msh6 VariantsSomatic VariantGenetic DisorderMedicineGenetics	2002	296
Segregation at three loci explains familial and population risk in Hirschsprung disease Stacey Gabriel, Rémi Salomon, Anna Pelet, Nature Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsGenetic Predisposition	2002	275
Inactivation of the von Hippel–Lindau ( <i>VHL</i> ) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: Evidence for a <i>VHL</i> ‐independent pathway in clear cell renal tumourigenesis Steven C. Clifford, Amanda Prowse, Nabeel A. Affara, Genes Chromosomes and Cancer Rcc DevelopmentGeneticsRenal PathologyPathologyCancer Biology	1998	267
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease Misha Angrist, Stacey Bolk, Bonnie Thiel, Human Molecular Genetics	1995	242
A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus Stacey Bolk, Anna Pelet, Robert M.W. Hofstra, Proceedings of the National Academy of Sciences	2000	209

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