Associated Papers
NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells.
Owusu-Ansah M et al.
International Journal of Molecular Sciences, 2023
Derivation of healthy hepatocyte-like cells from a female patient with ornithine transcarbamylase deficiency through X-inactivation selection.
Santamaria R et al.
Scientific Reports, 2022
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
Lopes-Marques M et al.
Human Mutation, 2021
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wang W et al.
Bmc Medical Genetics, 2019
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
Caldovic L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2015
Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.
Olsson E et al.
Plos One, 2015
Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.
Magesh R et al.
3 Biotech, 2014
Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.
Engel K et al.
Molecular Genetics and Metabolism, 2008
Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system.
Dobrowolski SF et al.
Human Mutation, 2007
Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC).
Azevedo L et al.
Annals of Human Genetics, 2006
H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiency.
Climent C et al.
Human Mutation, 2002
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients.
Popowska E et al.
Journal of Inherited Metabolic Disease, 1999
The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.
Tuchman M et al.
Journal of Inherited Metabolic Disease, 1998
Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.
Oppliger Leibundgut EO et al.
Human Mutation, 1996
Ornithine transcarbamylase deficiency: new sites with increased probability of mutation.
Oppliger Leibundgut EO et al.
Human Genetics, 1995
The ornithine transcarbamylase gene: new "private" mutations in four patients and study of a polymorphism.
Tuchman M et al.
Human Mutation, 1994