Associated Papers
Lessons learned from a muscle study in nail-patella syndrome.
Paul L et al.
Orphanet Journal of Rare Diseases, 2025
The First Observation and Diagnosis of Nail-Patella Syndrome Using LV-SEM: GBM Abnormalities Mimicking Alport Syndrome.
Ito H et al.
Nephrology (carlton, Vic.), 2025
LMX1B missense-perturbation of regulatory element footprints disrupts serotonergic forebrain axon arborization.
Eastman B et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
LMX1B missense-perturbation of regulatory element footprints disrupts serotonergic forebrain axon arborization.
Eastman B et al.
Biorxiv : the Preprint Server for Biology, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Novel mutation patterns in children with steroid-resistant nephrotic syndrome.
Prasad N et al.
Clinical Kidney Journal, 2024
Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.
Harita Y et al.
European Journal of Human Genetics : Ejhg, 2020
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.
Yao T et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2019
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
Bezdíčka M et al.
Pediatric Nephrology (berlin, Germany), 2018
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.
Ghoumid J et al.
European Journal of Human Genetics : Ejhg, 2016
Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function.
López-Arvizu C et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2011