Associated Papers
Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.
Gcobo T et al.
Genes, 2025
Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease.
Suzuki R et al.
Kidney International Reports, 2023
LAMB2 novel variant c.2885-9 C>A affects RNA splicing in a minigene assay.
Wang X et al.
Molecular Genetics & Genomic Medicine, 2021
Laminin β2 variants associated with isolated nephropathy that impact matrix regulation.
Kikkawa Y et al.
Jci Insight, 2021
Laminin Polymerization and Inherited Disease: Lessons From Genetics.
Shaw L et al.
Frontiers in Genetics, 2021
Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature.
Nishiyama K et al.
Bmc Medical Genetics, 2020
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A et al.
Kidney International, 2017
Glomerular basement membrane and related glomerular disease.
Chen YM et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2012
Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.
Lehnhardt A et al.
Pediatric Nephrology (berlin, Germany), 2012
Crystal structures of the network-forming short-arm tips of the laminin β1 and γ1 chains.
Carafoli F et al.
Plos One, 2012
A missense LAMB2 mutation causes congenital nephrotic syndrome by impairing laminin secretion.
Chen YM et al.
Journal of the American Society of Nephrology : Jasn, 2011
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Matejas V et al.
Human Mutation, 2010
Ophthalmological aspects of Pierson syndrome.
Bredrup C et al.
American Journal of Ophthalmology, 2008
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
Hasselbacher K et al.
Kidney International, 2006
[LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia].
Zurowska A et al.
Przeglad Lekarski, 2006
Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago.
Zenker M et al.
American Journal of Medical Genetics. Part A, 2005
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.
Zenker M et al.
Human Molecular Genetics, 2004