Associated Papers
Kidney transplantation in mitochondrial diseases: a systematic review.
Wong SW et al.
Pediatric Nephrology (berlin, Germany), 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Role of Comprehensive Renal Genetic Testing in Diagnosing a RMND-1 Mitochondrial Disease in Two Adult Cases Exhibiting Variable Disease Phenotypes.
Stein Q et al.
Clinical Case Reports, 2025
RMND1 Mutation Case Report and Literature Review.
Bayrak H et al.
Molecular Syndromology, 2024
Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.
Ambrose A et al.
Orphanet Journal of Rare Diseases, 2024
RMND1 and PLN variants are the underlying cause of Perrault-like syndrome and cardiac anomalies in a patient.
Du X et al.
Clinical Case Reports, 2024
Genetic insights into the complexity of premature ovarian insufficiency.
Nie L et al.
Reproductive Biology and Endocrinology : Rb&e, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
Bar O et al.
International Journal of Molecular Sciences, 2024
Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease.
Kömhoff M et al.
Pediatric Nephrology (berlin, Germany), 2024
The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications.
Rioux AV et al.
Journal of Molecular Medicine (berlin, Germany), 2023
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Primary ovarian insufficiency in RMND1 mitochondrial disease.
Boros E et al.
Mitochondrion, 2022
Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic.
Ben Moshe Y et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Faridi R et al.
Human Genetics, 2022
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.
Forny P et al.
Neurology. Genetics, 2021
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Bekheirnia N et al.
Kidney360, 2021
Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement.
Oziębło D et al.
Genes, 2020
Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects.
Gaboon NEA et al.
Saudi Journal of Biological Sciences, 2020
Characterization of the renal phenotype in RMND1-related mitochondrial disease.
Shayota BJ et al.
Molecular Genetics & Genomic Medicine, 2019
Mitochondrial Dysfunction in Primary Ovarian Insufficiency.
Tiosano D et al.
Endocrinology, 2019
RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making.
Broenen E et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2019
A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects.
Demain LAM et al.
Clinical Genetics, 2018
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
Mallett AJ et al.
Kidney International, 2017
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
Ulrick N et al.
Pediatric Neurology, 2017
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
Ng YS et al.
Journal of Medical Genetics, 2016
Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report.
Gupta A et al.
Bmc Research Notes, 2016
Whole exome sequencing in patients with white matter abnormalities.
Vanderver A et al.
Annals of Neurology, 2016
Hearing impairment and renal failure associated with RMND1 mutations.
Ravn K et al.
American Journal of Medical Genetics. Part A, 2016
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.
Janer A et al.
European Journal of Human Genetics : Ejhg, 2015
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE et al.
Science Translational Medicine, 2014
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW et al.
Jama, 2014