Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Utilizing C. elegans Spermatogenesis and Fertilization Mutants as a Model for Human Disease.
Perez SM et al.
Journal of Developmental Biology, 2025
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.
Morgan A et al.
Biomedicines, 2021
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
Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report.
Zhao X et al.
Bmc Nephrology, 2018
Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid-base balance.
Seeger H et al.
Journal of Nephrology, 2017
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Palazzo V et al.
Kidney International, 2017
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
Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.
Elia A et al.
Nephron. Clinical Practice, 2011
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
Vivante A et al.
Nephron. Physiology, 2011
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity.
Andreucci E et al.
Pediatric Nephrology (berlin, Germany), 2009
Atypical presentation of distal renal tubular acidosis in two siblings.
Tasic V et al.
Pediatric Nephrology (berlin, Germany), 2008
The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction.
Fuster DG et al.
Kidney International, 2008
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
Development and Diseases of the Collecting Duct System.
Chen L et al.
Results and Problems in Cell Differentiation, 0