Associated Papers
HFE-Related Hemochromatosis May Be a Primary Kupffer Cell Disease.
Kouroumalis E et al.
Biomedicines, 2025
Recurrent BMP4 variants in exon 4 cause non-HFE-associated hemochromatosis via the BMP/SMAD signaling pathway.
Ouyang Q et al.
Orphanet Journal of Rare Diseases, 2024
Novel compound heterozygous mutations in the hemojuvelin gene in a juvenile hemochromatosis patient: A case report.
Xie LD et al.
World Journal of Clinical Cases, 2024
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.
Jiali C et al.
Frontiers in Genetics, 2024
DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway.
Li Y et al.
Hepatology International, 2023
Expanding the genetic spectrum of tooth agenesis using whole-exome sequencing.
Yu K et al.
Clinical Genetics, 2022
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses.
Kantaputra PN et al.
Clinical Genetics, 2022
Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.
Wu L et al.
Orphanet Journal of Rare Diseases, 2021
Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants.
Zhu H et al.
Orphanet Journal of Rare Diseases, 2021
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.
Kong X et al.
Orphanet Journal of Rare Diseases, 2019
Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.
Marini NJ et al.
American Journal of Medical Genetics. Part A, 2019
Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.
Lv T et al.
Journal of Medical Genetics, 2018
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.
Fan Y et al.
Scientific Reports, 2017
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
Hwang DY et al.
Human Genetics, 2015
[BMP2/BMP4 genetic evaluation in 40 patients with tooth agenesis].
Zou C et al.
Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2015