Charles H.C.M. Buys

Overview

Best Publications

• 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;Rein P. Stulp

  1392
  Citations

• In vitro fertilization with preimplantation genetic screening

  Sebastiaan Mastenbroek;Moniek Twisk;Jannie Van Echten-Arends;Birgit Sikkema-Raddatz

  923
  Citations

• Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer

  Klaas Kok;Jan Osinga;Ben Carritt;Mary B. Davis

  483
  Citations

• PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

  G. van der Steege;P.M. Grootscholten;P. van der Vlies;T.G. Draaijers

  455
  Citations

• Somatic mutations of the von Hippel — Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma

  Keith Foster;Amanda Prowse;Anke van den Berg;Stewart Fleming

  436
  Citations

• Deletions of the short arm of chromosome 3 in solid tumors and the search for suppressor genes

  Klaas Kok;Susan L. Naylor;Charles H.C.M. Buys

  433
  Citations

• 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;Ying Wu

  402
  Citations

• Inactivation of the von Hippel-Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: evidence for a VHL-independent pathway in clear cell renal tumourigenesis.

  Steven C. Clifford;Amanda H. Prowse;Nabeel A. Affara;Charles H. C. M. Buys

  392
  Citations

• 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;Claudia Kempinga

  382
  Citations

• 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;Rob G.J. Mensink

  340
  Citations

• Segregation at three loci explains familial and population risk in Hirschsprung disease

  Stacey Bolk Gabriel;Rémi Salomon;Anna Pelet;Misha Angrist

  293
  Citations

• DNA Mismatch Repair Gene Mutations in 55 Kindreds with Verified Or Putative Hereditary Non-Polyposis Colorectal Cancer

  Minna Nyström-Lahti;Ying Wu;Anu-Liisa Moisio;Robert M. W. Hofstra

  291
  Citations

• Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

  Misha Angrist;Stacey Bolk;Bonnie Thiel;Erik G. Puffenberger

  288
  Citations

• DELETIONS OF THE SURVIVAL MOTOR-NEURON GENE IN UNAFFECTED SIBLINGS OF PATIENTS WITH SPINAL MUSCULAR-ATROPHY

  J. M. Cobben;G. Van Der Steege;P. Grootscholten;M. De Visser

  258
  Citations

• p53 Mutations in Human Lung Tumors

  C. W. Miller;K. Simon;A. Aslo;K. Kok

  248
  Citations

• 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;Misha Angrist

  237
  Citations

• A role for MLH3 in hereditary nonpolyposis colorectal cancer

  Y Wu;Mjw Berends;RH Sijmons;Rgj Mensink

  217
  Citations

• Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms

  Ying Wu;Rob G.J. Mensink;Edwin Verlind;Rolf H. Sijmons

  209
  Citations

• PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS

  GerardJ. Te Meerman;LeoP. Ten Kate;CharlesC.H.M. Buys

  195
  Citations

• A Loss-of-Function Mutation in the Endothelin-Converting Enzyme 1 (ECE-1) Associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

  Robert M.W. Hofstra;Olivier Valdenaire;Ellen Arch;Jan Osinga

  192
  Citations