List of works - Felix W M De Rooij

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

scientific article

A stable isotope method for in vivo assessment of human insulin synthesis and secretion

scientific article published on 23 August 2016

Afamelanotide for Erythropoietic Protoporphyria

scientific article published on July 2015

Age-related obesity and type 2 diabetes dysregulate neuronal associated genes and proteins in humans

scientific article published on 18 August 2015

Bacterial infections in cirrhosis: role of proton pump inhibitors and intestinal permeability.

scientific article

Bile acids and Barrett's oesophagus: a sine qua non or coincidence?

scientific article published on January 2006

CARD15 mutations in Dutch familial and sporadic inflammatory bowel disease and an overview of European studies

scientific article

Card15 and Crohn's disease: healthy homozygous carriers of the 3020insC frameshift mutation

scientific article published in March 2003

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

scientific article published on July 1, 1992

Cyclooxygenase 2 expression and molecular alterations in Peutz-Jeghers hamartomas and carcinomas

scientific article published on 01 August 2003

Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activity ⬇️

scientific article published on January 1, 1992

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

scientific article published on 01 January 1994

Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria

scientific article published on 07 July 2011

Discriminative Ability of Plasma Branched-Chain Amino Acid Levels for Glucose Intolerance in Families At Risk for Type 2 Diabetes

scientific article

Failing beta-cell adaptation in South Asian families with a high risk of type 2 diabetes

scientific article

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome

scientific article

High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome

scientific article

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

scientific article published on September 1, 1992

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

scientific article published on 01 March 1993

Hyperammonaemia and Helicobacter pylori

scientific article

Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)

scientific article published on 20 December 2012

Molecular genetic evidence of an association between nasal polyposis and the Peutz-Jeghers syndrome

scientific article published on 01 June 2002

Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease ⬇️

scientific article published on August 1, 1991

Nasal polyposis in Peutz-Jeghers syndrome: a distinct histopathological and molecular genetic entity

scientific article

Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria

scientific article published on 12 August 2009

Post-glucose-load urinary C-peptide and glucose concentration obtained during OGTT do not affect oral minimal model-based plasma indices

scientific article published on 2 November 2015

Relative frequency and morphology of cancers in STK11 mutation carriers

scientific article

The Relationship of Metabolic Syndrome Traits with Beta-Cell Function and Insulin Sensitivity by Oral Minimal Model Assessment in South Asian and European Families Residing in the Netherlands

scientific article published on 11 August 2016

Timing of 5-aminolaevulinic acid-induced photodynamic therapy for the treatment of patients with Barrett's oesophagus

scientific article

Transcription factor 7-like 2 gene links increased in vivo insulin synthesis to type 2 diabetes.

scientific article

Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria

scientific article published on 01 October 1993

List of works by Felix W M De Rooij

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

A stable isotope method for in vivo assessment of human insulin synthesis and secretion

Afamelanotide for Erythropoietic Protoporphyria

Age-related obesity and type 2 diabetes dysregulate neuronal associated genes and proteins in humans

Bacterial infections in cirrhosis: role of proton pump inhibitors and intestinal permeability.

Bile acids and Barrett's oesophagus: a sine qua non or coincidence?

CARD15 mutations in Dutch familial and sporadic inflammatory bowel disease and an overview of European studies

Card15 and Crohn's disease: healthy homozygous carriers of the 3020insC frameshift mutation

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

Cyclooxygenase 2 expression and molecular alterations in Peutz-Jeghers hamartomas and carcinomas

Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activity ⬇️

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

Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria

Discriminative Ability of Plasma Branched-Chain Amino Acid Levels for Glucose Intolerance in Families At Risk for Type 2 Diabetes

Failing beta-cell adaptation in South Asian families with a high risk of type 2 diabetes

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome

High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome

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

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

Hyperammonaemia and Helicobacter pylori

Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)

Molecular genetic evidence of an association between nasal polyposis and the Peutz-Jeghers syndrome

Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease ⬇️

Nasal polyposis in Peutz-Jeghers syndrome: a distinct histopathological and molecular genetic entity

Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria

Post-glucose-load urinary C-peptide and glucose concentration obtained during OGTT do not affect oral minimal model-based plasma indices

Relative frequency and morphology of cancers in STK11 mutation carriers

The Relationship of Metabolic Syndrome Traits with Beta-Cell Function and Insulin Sensitivity by Oral Minimal Model Assessment in South Asian and European Families Residing in the Netherlands

Timing of 5-aminolaevulinic acid-induced photodynamic therapy for the treatment of patients with Barrett's oesophagus

Transcription factor 7-like 2 gene links increased in vivo insulin synthesis to type 2 diabetes.

Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria