Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
Etiology and outcomes of primary renal tubular acidosis.
Priyadarshini S et al.
Pediatric Nephrology (berlin, Germany), 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Stimulating T cell responses against patient-derived breast cancer cells with neoantigen peptide-loaded peripheral blood mononuclear cells.
Sueangoen N et al.
Cancer Immunology, Immunotherapy : Cii, 2024
Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach.
van den Berg G et al.
Nephron, 2024
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.
Al-Hamed MH et al.
Human Mutation, 2022
Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.
AitRaise I et al.
Molecular Biology Reports, 2022
Hearing loss in Africa: current genetic profile.
Adadey SM et al.
Human Genetics, 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
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
Highly similar genomic landscapes in monoclonal B-cell lymphocytosis and ultra-stable chronic lymphocytic leukemia with low frequency of driver mutations.
Agathangelidis A et al.
Haematologica, 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
Clinical and molecular aspects of distal renal tubular acidosis in children.
Besouw MTP et al.
Pediatric Nephrology (berlin, Germany), 2017
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
Translating sanger-based routine DNA diagnostics into generic massive parallel ion semiconductor sequencing.
Diekstra A et al.
Clinical Chemistry, 2015
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
ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.
Subasioglu Uzak A et al.
Renal Failure, 2013
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Romdhane L et al.
Orphanet Journal of Rare Diseases, 2012
An expanded syndrome of dRTA with hearing loss, hyperoxaluria and beta2-microglobulinuria.
Copelovitch L et al.
Ndt Plus, 2010
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
Vargas-Poussou R et al.
Journal of the American Society of Nephrology : Jasn, 2006
Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis.
Pereira PC et al.
Jornal De Pediatria, 0
Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene.
Boualla L et al.
Current Research in Translational Medicine, 0