Associated Papers
Evaluating the clinical utility and strategy of whole-exome sequencing testing for fetuses with increased nuchal translucency.
Zhou F et al.
American Journal of Obstetrics and Gynecology, 2025
Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation.
Wang JY et al.
Frontiers in Molecular Neuroscience, 2022
Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.
He WB et al.
Bmc Medical Genetics, 2018
Association of Rare Nonsynonymous Variants in PKD1 and PKD2 with Familial Intracranial Aneurysms in a Japanese Population.
Hirota K et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2016
Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.
Cornec-Le Gall E et al.
Human Mutation, 2014
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
Bergmann C et al.
Journal of the American Society of Nephrology : Jasn, 2011
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