Associated Papers
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Richard AC et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2016
Long-term neuropsychiatric follow-up in hyperprolinemia type I.
Di Rosa G et al.
Psychiatric 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
Identification of PRODH mutations in Korean neonates with type I hyperprolinemia.
Jang MA et al.
Annals of Clinical and Laboratory Science, 2013
Type I hyperprolinemia: genotype/phenotype correlations.
Guilmatre A et al.
Human Mutation, 2010
Inborn errors of proline metabolism.
Mitsubuchi H et al.
The Journal of Nutrition, 2008
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
Raux G et al.
Human Molecular Genetics, 2007
Functional consequences of PRODH missense mutations.
Bender HU et al.
American Journal of Human Genetics, 2005
Association of Candidate Single Nucleotide Polymorphisms Related to Candidate Genes in Patients With Schizophrenia.
Karimian SS et al.
Basic and Clinical Neuroscience, 0
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