Associated Papers
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Schneider R et al.
Genes & Diseases, 2025
Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients.
Paiz F et al.
Neuromuscular Disorders : Nmd, 2024
The clinical characteristics and genotype analysis of LAMB2 gene mutation.
Li G et al.
Frontiers in Medicine, 2024
Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease.
Suzuki R et al.
Kidney International Reports, 2023
Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Thakor JM et al.
Molecular Biology Reports, 2021
Laminin β2 variants associated with isolated nephropathy that impact matrix regulation.
Kikkawa Y et al.
Jci Insight, 2021
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome.
Abid A et al.
Frontiers in Genetics, 2018
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Matejas V et al.
Human Mutation, 2010
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
Ophthalmological aspects of Pierson syndrome.
Bredrup C et al.
American Journal of Ophthalmology, 2008
A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2.
Matejas V et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2006
Molecular pathology of nephrotic syndrome in childhood: a contemporary approach to diagnosis.
Liapis H
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0