R. B. Luijt

发表

Rapid detection of VHL exon deletions using real-time quantitative PCR

F. Speleman, J. Vandesompele, K. Claes, 2005, Laboratory Investigation.

Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli

Rodney J. Scott, Riccardo Fodde, R. Scott, 1996, Human Genetics.

Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene.

J. Barber, D. Eccles, R. Fodde, 1996, American journal of human genetics.

Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis

C. Tops, G. Baeten, H. Vasen, 1996, The Lancet.

Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping

Peter H. L. Krijger, J. Foekens, A. Das, 2014, Nature Biotechnology.

Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes.

R. Scott, R. B. van der Luijt, J. Mary, 1995, Gut.

University of Groningen MEN 1 redefined , a clinical comparison of mutation-positive and mutation-negative patients

O. Dekkers, M. Drent, G. Valk, 2019 .

The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group.

M. Beckmann, T. Sellers, M. Stratton, 2000, American journal of human genetics.

Germline APC mutation familial adenomatous polyposis in Indian family

R. Fodde, C. Mckeown, M. Hultén, 1992, The Lancet.

Chapter 24 – Multiple Endocrine Neoplasia Type 1 (MEN1)

T. Links, G. Valk, R. Luijt, 2016 .

Germline mutations in the Von Hippel-Lindau ( VHL ) gene

D. Halley, B. Eussen, R. Luijt, 2000 .

Primary Hyperparathyroidism in MEN1 Patients: A Cohort Study With Longterm Follow-Up on Preferred Surgical Procedure and the Relation With Genotype

I. B. Borel Rinkes, M. Heijer, M. den Heijer, 2012, Annals of surgery.

Care for patients with multiple endocrine neoplasia type 1: the current evidence base

G. Valk, R. Luijt, K. Dreijerink, 2011, Familial Cancer.

Multiple endocrine neoplasia type 1 (MEN1): its manifestations and effect of genetic screening on clinical outcome

R. B. van der Luijt, G. Valk, H. Koppeschaar, 2009, Clinical endocrinology.

A novel missense mutation (N78D) in a family with von Hippel–Lindau disease with central nervous system haemangioblastomas, pancreatic and renal cysts

R. Luijt, M. Apaydin, E. Kurt, 2013, Familial Cancer.

Quality of NAT 2 Genotyping with Restriction Fragment Length Polymorphism Using DNA Isolated from Frozen Urine 1

P. Peeters, R. Luijt, F. V. Duijnhoven, 2002 .

Multiple Endocrine Neoplasia Type 1 (MEN1)

R. Luijt, K. Dreijerink, C. Lips, 2010 .

Medullary Thyroid Carcinoma

R. Luijt, C. Lips, J. Höppener, 2004 .

Molecular genetic tests in surgical management of familial adenomatous polyposis

H. Vasen, C. Tops, R. Luijt, 1998, The Lancet.

Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis.

R. Fodde, R. B. van der Luijt, G. Griffioen, 1992, Genomics.

Somatic mutation of APC gene in desmoid tumour in familial adenomatous polyposis

J. Delhanty, J. Delhanty, R. Luijt, 1993, The Lancet.

UvA-DARE ( Digital Academic Repository ) Factors Predicting Outcome of Total Thyroidectomy in Young Patients with Multiple Endocrine Neoplasia Type 2 : A Nationwide Long-Term Follow-up Study

J. Hamming, I. B. Borel Rinkes, J. Plukker, 2010 .