Associated Papers
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies.
Möller-Kerutt A et al.
Life Science Alliance, 2023
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Tessier A et al.
Acta Neuropathologica Communications, 2023
Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.
Adutwum M et al.
Clinical Genetics, 2023
Crumbs homolog 2 mutation in two siblings with steroid-resistant nephrotic syndrome: Two case reports.
Lu J et al.
World Journal of Clinical Cases, 2021
Crumbs2 Is an Essential Slit Diaphragm Protein of the Renal Filtration Barrier.
Möller-Kerutt A et al.
Journal of the American Society of Nephrology : Jasn, 2021
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus.
Date P et al.
Scientific Reports, 2019
A case report of CRB2 mutation identified in a Chinese boy with focal segmental glomerulosclerosis.
Fan J et al.
Medicine, 2018
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
Yates CL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.
Udagawa T et al.
Pediatric Nephrology (berlin, Germany), 2017
Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Jaron R et al.
Clinical Genetics, 2016
Expansion of phenotype and genotypic data in CRB2-related syndrome.
Lamont RE et al.
European Journal of Human Genetics : Ejhg, 2016
The Family of Crumbs Genes and Human Disease.
Slavotinek AM
Molecular Syndromology, 2016
CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.
Slavotinek A et al.
American Journal of Human Genetics, 2015