Associated Papers
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism.
He N et al.
Clinical and Translational Medicine, 2023
Missense and nonsense mutations of the zebrafish hcfc1a gene result in contrasting mTor and radial glial phenotypes.
Castro VL et al.
Gene, 2023
Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.
Esser AJ et al.
Iscience, 2022
Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia.
Wang F et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2022
Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.
Chern T et al.
Nature Communications, 2022
A case of methylmalonic acidemia and homocysteinemia cblX type with negative tandem mass spectrometry testing.
Shen Y et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2021
Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients.
Wongkittichote P et al.
Journal of Human Genetics, 2021
The role of HCFC1 in syndromic and non-syndromic intellectual disability.
Castro VL et al.
Medical Research Archives, 2020
X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.
Scalais E et al.
Pediatric Neurology, 2017
A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.
Koufaris C et al.
Biomedical Reports, 2016
Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.
Quintana AM et al.
Developmental Biology, 2014
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
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