Associated Papers
Distal Renal Tubular Acidosis With Sensorineural Deafness in a Saudi Female: A Case Report of an ATP6V1B1 Mutation in a Consanguineous Family.
Alrasheed A et al.
Cureus, 2025
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Cogal AG et al.
Kidney International Reports, 2021
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.
Guo W et al.
Clinical Genetics, 2021
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Zeevi DA et al.
Molecular Genetics & Genomic Medicine, 2021
Evaluation of phenotypic and genotypic features of children with distal kidney tubular acidosis.
Atmis B et al.
Pediatric Nephrology (berlin, Germany), 2020
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler G et al.
Molecular Genetics & Genomic Medicine, 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
Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid-base balance.
Seeger H et al.
Journal of Nephrology, 2017
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
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.
Escobar LI et al.
Molecular Genetics & Genomic Medicine, 2016
Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families.
Zeinali F et al.
The Journal of Laryngology and Otology, 2014
Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.
Mohebbi N et al.
Clinical Genetics, 2013
Why is hypercalciuria absent at diagnosis in some children with ATP6V1B1 mutation?
Tsai HY et al.
Pediatric Nephrology (berlin, Germany), 2011
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
Vivante A et al.
Nephron. Physiology, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction.
Fuster DG et al.
Kidney International, 2008
Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.
Joshua B et al.
The Journal of Laryngology and Otology, 2008
Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children.
Gil H et al.
Pediatric Nephrology (berlin, Germany), 2007
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
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
Stover EH et al.
Journal of Medical Genetics, 2002
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
Karet FE et al.
Nature Genetics, 1999
Familial acidosis of renal tubular origin.
WILANSKY DL et al.
Canadian Medical Association Journal, 1960
Development and Diseases of the Collecting Duct System.
Chen L et al.
Results and Problems in Cell Differentiation, 0