Disease: Nephrotic syndrome ocular anomalies
- <em>COL4A5</em> mutation causes Alport syndrome with focal segmental glomerulosclerosis lesion: Case report and literature review
- A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review
- A milder variant of Pierson syndrome
- A missense LAMB2 mutation causes congenital nephrotic syndrome by impairing laminin secretion
- A Novel Homozygous Mutation in the <em>COL4A4</em> Gene (Gly1436del) Causing Alport Syndrome Exposed by Pregnancy: A Case Report and Review of the Literature
- A Novel Homozygous Mutation in the COL4A4 Gene (Gly1436del) Causing Alport Syndrome Exposed by Pregnancy: A Case Report and Review of the Literature
- A Novel Homozygous Truncating Mutation in <em>LAMB2</em> Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome
- A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome
- A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome
- A novel mutation of laminin beta-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period
- A novel mutation of laminin β-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period
- A novel mutation of laminin β2 (LAMB2) in two siblings with renal failure
- A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2
- An extremely mild clinical course in a case with LAMB2-associated nephritis diagnosed with next-generation sequencing
- Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome
- Case of Pierson syndrome presented with hyphema,vitrous haemorrhage and subsequent neovascular glaucoma
- Case Report: Preimplantation Genetic Testing and Pregnancy Outcomes in Women With Alport Syndrome
- Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations
- Clinical considerations on canine visceral leishmaniasis in Greece: a retrospective study of 158 cases (1989-1996)
- COL4A5 mutation causes Alport syndrome with focal segmental glomerulosclerosis lesion: Case report and literature review
- Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome
- Congenital nephrotic syndrome, diffuse mesangial sclerosis, and bilateral cataract
- Congenital syphilis
- Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report
- Diffuse mesangial sclerosis and ocular abnormalities in two siblings
- Diffuse mesangial sclerosis: association with unreported congenital anomalies and placental enlargement
- Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant
- Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings
- Eye involvement in children with primary focal segmental glomerulosclerosis
- Familial infantile nephrotic syndrome with ocular abnormalities
- Familial infantile nephrotic syndrome with ocular abnormalities
- First Japanese case of Pierson syndrome with mutations in LAMB2
- Forced expression of laminin beta1 in podocytes prevents nephrotic syndrome in mice lacking laminin beta2, a model for Pierson syndrome
- Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities
- Kidney transplantation in a child with Pierson syndrome
- LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia
- LAMB2 gene: broad clinical spectrum in Pierson syndrome
- LAMB2 mutation with different phenotypes in China
- Laminin β2 gene missense mutation produces endoplasmic reticulum stress in podocytes
- Laminin-521 Protein Therapy for Glomerular Basement Membrane and Podocyte Abnormalities in a Model of Pierson Syndrome
- Lenticonus in Alport's syndrome. A family study
- Long-term outcome of biopsy-proven, frequently relapsing minimal-change nephrotic syndrome in children
- Management of the adverse effects associated with intravenous bisphosphonates
- Multiple myeloma with crystal-storing histiocytosis, crystalline podocytopathy, and light chain proximal tubulopathy, revealed by retinal abnormalities: A case report
- Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism
- Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum
- Neurological involvement in monogenic podocytopathies
- Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ss2 gene
- Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis
- Ocular phenotype in a patient with <em>PAX2</em> gene mutation-associated papillorenal syndrome
- Ocular phenotype in a patient with PAX2 gene mutation-associated papillorenal syndrome
- Ophthalmological aspects of Pierson syndrome
- Phenotypic and genotypic features of Alport syndrome in Chinese children
- Pierson Syndrome Associated with Hypothyroidism and Septic Shock
- Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR
- Pierson syndrome: a novel cause of congenital nephrotic syndrome
- Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders
- Skeletal anomalies in nail-patella syndrome. Case report and overview
- Skeletal impairment in Pierson syndrome: Is there a role for lamininbeta2 in bone physiology?
- Skeletal impairment in Pierson syndrome: Is there a role for lamininβ2 in bone physiology?
- Steroid dependent and independent ocular findings in Iranian children with nephrotic syndrome
- Study on Steroid Induced Ocular Findings in Children with Nephrotic Syndrome
- The first Chinese Pierson syndrome with novel mutations in LAMB2
- The variable course of women with X-linked Alport Syndrome
- Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome
- Variable phenotype of Pierson syndrome