Associated Papers
Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps.
Nieminen TT et al.
Bmc Cancer, 2025
41023686 (PubMed )
Supplement: 12885_2025_14865_MOESM2_ESM.xlsx › Ad_II.5_FCCX-W
Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.
Zhu X et al.
Kidney Diseases (basel, Switzerland), 2024
HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype-phenotype relationships.
Ge Y et al.
World Journal of Urology, 2023
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.
Abid A et al.
Clinical Genetics, 2023
Use of whole-exome sequencing to identify novel monogenic gene mutations and genotype-phenotype correlations in Chinese Han children with urolithiasis.
Wang Z et al.
Frontiers in Genetics, 2023
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1
HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association.
Abid A et al.
Human Mutation, 2022
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M et al.
Bmc Medical Genomics, 2022
35831859 (PubMed )
Supplement: 12920_2022_1311_MOESM1_ESM.xls › filtered_data
Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease.
Bar R et al.
The Journal of Urology, 2021
Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children.
Fang X et al.
Pediatric Nephrology (berlin, Germany), 2019
Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones.
He L et al.
World Journal of Urology, 2019
Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3.
Wang X et al.
American Journal of Nephrology, 2015
[Direct sequencing and analysis of exons of Wilson' disease gene with the most mutations: a study in Hunan Han patients].
Luo KZ et al.
Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2006
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