Associated Papers
Repetitive syncope in a newborn leading to pacemaker implantation: Evidence for dopamine beta-hydroxylase deficiency.
Marimpouy N et al.
Heartrhythm Case Reports, 2025
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Association Analyses of Predicted Loss-of-Function Variants Prioritized 15 Genes as Blood Pressure Regulators.
Lecluze E et al.
The Canadian Journal of Cardiology, 2023
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency.
Wassenberg T et al.
Journal of Inherited Metabolic Disease, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Hyperinsulinemia and Insulin Resistance in Dopamine β-Hydroxylase Deficiency.
Arnold AC et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase.
Kim CH et al.
The Journal of Biological Chemistry, 2011
Dopamine beta-hydroxylase deficiency.
Senard JM et al.
Orphanet Journal of Rare Diseases, 2006
Human genetics of plasma dopamine beta-hydroxylase activity: applications to research in psychiatry and neurology.
Cubells JF et al.
Psychopharmacology, 2004
A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T --> C in African- and European-Americans.
Zabetian CP et al.
American Journal of Medical Genetics. Part A, 2003
Variations in the dopamine beta-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophy.
Cho S et al.
American Journal of Medical Genetics. Part A, 2003
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