F. D. Rooij

发表

Common variants in PCSK1 influence blood pressure and body mass index

A. Hofman, E. Sijbrands, M. Hoek, 2014, Journal of Human Hypertension.

Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis

J. Deybach, B. Grandchamp, Y. Nordmann, 2004, Human Genetics.

Diagnosis and Treatment of Acute Intermittent Porphyria

F. D. Rooij, K. T. Velde, J. Wilson, 1989 .

High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria

J. Deybach, B. Grandchamp, Y. Nordmann, 1993, Human Genetics.

Management and Treatment of the Porphyrias

P. Wilson, F. D. Rooij, 2012 .

Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria

P. Siersema, B. Grandchamp, Y. Nordmann, 1992, Human Genetics.

Porphyria: A Diagnostic Approach

P. Wilson, F. D. Rooij, A. Edixhoven, 2012 .

Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria

S. K. Wadman, B. Grandchamp, Y. Nordmann, 1990, Journal of Inherited Metabolic Disease.

Cyclooxygenase 2 Expression and Molecular Alterations in Peutz-Jeghers Hamartomas and Carcinomas 1

S. Gruber, J. Keller, F. Giardiello, 2003 .

CARD15 and Crohn's Disease: Healthy Homozygous Carriers of the 3020insC Frameshift Mutation

E. Kuipers, J. Houwing-Duistermaat, J. Wilson, 2003, American Journal of Gastroenterology.

Novel Null-Allele Mutations and Genotype-Phenotype Correlation in Argentinean Patients with Erythropoietic Protoporphyria

A. Batlle, V. Parera, F. D. Rooij, 2009, Molecular medicine.

Vitamin D deficiency in patients with erythropoietic protoporphyria

A. Zandbergen, F. D. Rooij, J. C. Spelt, 2010, Journal of Inherited Metabolic Disease.

Porphyrin biosynthesis in human Barrett's oesophagus and adenocarcinoma after ingestion of 5-aminolaevulinic acid

P. Siersema, H. Tilanus, P. Siersema, 2000, British Journal of Cancer.

Hyperammonaemia and Helicobacter pylori

I. Hartmann, J. Wilson, S. Schalm, 1995, The Lancet.

LKB 1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome

L. Aaltonen, K. Aittomäki, J. Mecklin, 2006 .

STK11 status and intussusception risk in Peutz-Jeghers syndrome

S. Gruber, R. Scott, R. Houlston, 2006, Journal of Medical Genetics.

A point mutation GA in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

C. Beaumont, J. Deybach, P. Wilson, 2022 .

High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.

F. D. de Rooij, B. Grandchamp, Y. Nordmann, 1992, American journal of human genetics.

Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADα, and MO25α, in Peutz–Jeghers syndrome

P Katajisto, L. Aaltonen, I. Tomlinson, 2005, British Journal of Cancer.

S1990 High Cumulative and Relative Cancer Risk and Increased Mortality in Patients With Peutz-Jeghers Syndrome

E. Kuipers, V. Lemmens, C. Looman, 2010 .