Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Hearing loss in Africa: current genetic profile.
Adadey SM et al.
Human Genetics, 2022
Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.
Mota A et al.
Oncogene, 2022
Molecular Diagnosis of Primary Hyperoxaluria Type 1 and Distal Renal Tubular Acidosis in Moroccan Patients With Nephrolithiasis and/or Nephrocalcinosis.
Fatima A et al.
Cureus, 2022
Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.
Said MB et al.
Molecular Genetics & Genomic Medicine, 2022
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.
Guo W et al.
Clinical Genetics, 2021
Evaluation of phenotypic and genotypic features of children with distal kidney tubular acidosis.
Atmis B et al.
Pediatric Nephrology (berlin, Germany), 2020
ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis.
Dahmani M et al.
International Journal of Pediatric Otorhinolaryngology, 2020
Treatment and long-term outcome in primary distal renal tubular acidosis.
Lopez-Garcia SC et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2019
Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.
Alonso-Varela M et al.
Pediatric Nephrology (berlin, Germany), 2018
tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine.
Wei CH et al.
Bioinformatics (oxford, England), 2018
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Palazzo V et al.
Kidney International, 2017
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.
Escobar LI et al.
Molecular Genetics & Genomic Medicine, 2016
Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.
Nagara M et al.
Genetic Testing and Molecular Biomarkers, 2014
Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis.
Gao Y et al.
Renal Failure, 2014
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.
Elhayek D et al.
Bmc Medical Genetics, 2013