Associated Papers
Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.
Toriyama K et al.
The Journal of Pathology, 2025
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
Psychiatric phenotypes associated with hyperprolinemia: A systematic review.
Namavar Y et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations.
Duarte M et al.
Brain & Development, 2017
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
Biochemical and clinical features of hereditary hyperprolinemia.
Mitsubuchi H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
PRODH polymorphisms, cortical volumes and thickness in schizophrenia.
Ota VK et al.
Plos One, 2014
Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes.
Hu CA et al.
Amino Acids, 2008
Inborn errors of proline metabolism.
Mitsubuchi H et al.
The Journal of Nutrition, 2008
Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation.
Di Rosa G et al.
Psychiatric Genetics, 2008
Functional consequences of PRODH missense mutations.
Bender HU et al.
American Journal of Human Genetics, 2005
The molecular genetics of the 22q11-associated schizophrenia.
Karayiorgou M et al.
Brain Research. Molecular Brain Research, 2004
Detailed analysis of PRODH and PsPRODH reveals no association with schizophrenia.
Williams HJ et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2003
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.
Jacquet H et al.
Human Molecular Genetics, 2002