Lista de obras - Felix W M De Rooij - Dominio Público Uruguay

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

artículo científico publicado en 1989

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

artículo científico publicado en 2016

Afamelanotide for Erythropoietic Protoporphyria

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado el 31 de enero de 2012

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

artículo científico publicado en 2006

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

artículo científico publicado en 2007

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

artículo científico publicado en 2003

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

artículo científico publicado el 1 de julio de 1992

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

artículo científico publicado en 2003

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

artículo científico publicado el 1 de enero de 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 ⬇️

artículo científico publicado el 7 de julio de 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome

artículo científico publicado en 2006

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

artículo científico publicado en 2011

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

artículo científico publicado el 1 de septiembre de 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

artículo científico publicado en 1995

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 ⬇️

artículo científico publicado el 1 de agosto de 1991

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

Relative frequency and morphology of cancers in STK11 mutation carriers

artículo científico publicado en 2004

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

artículo científico publicado en 2002

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

artículo científico publicado en 2018

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

artículo científico publicado en 1993

Lista de obras de 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