• <em>KCTD1</em> and Scalp-Ear-Nipple ('Finlay-Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains
• A family with X-linked benign familial hematuria
• A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population
• A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population
• A high-impact FN1 variant correlates with fibronectin-mediated glomerulopathy via decreased binding to collagen type IV
• A novel FN1 variant associated with familial hematuria: TBMN?
• Acute hemorrhagic edema of infancy: the experience of a large tertiary pediatric center in Israel
• Acute kidney injury due to glomerular haematuria and obstructive erythrocyte casts associated with thrombocytopaenia and thin basement membrane disease: a case report
• Alport syndrome and Alport kidney diseases - elucidating the disease spectrum
• Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2
• Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis
• Alport's syndrome and benign familial haematuria: light and electron microscopic studies of the kidney
• An Overlapping Case of Alport Syndrome and Thin Basement Membrane Disease
• An unusual cause of hematuria
• An unusual cause of pseudoachalasia: the Alport syndrome-diffuse leiomyomatosis association
• Autophagy in Immune-Related Renal Disease
• Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome
• Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically
• Autosomal dominant syndrome of retinal arterial tortuosity
• Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report
• Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life
• Causes and outcomes of asymptomatic gross haematuria in children
• Chronic renal failure and shortened lifespan in COL4A3+/- mice: an animal model for thin basement membrane nephropathy
• Clear cell renal carcinoma presenting as a bleeding cyst in pregnancy: inaugural manifestation of a von Hippel-Lindau disease
• Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study
• Clinical and histopathological characteristics of COL4A3 c.2881+1G&gt;A variant causing Alport spectrum disorders in Croatian population
• Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney dis
• Clinicopathological Features of Hereditary Nephritis in the Iranian Population: Analysis of a 14-Year Survey in Kidney Biopsies From a Large Referral Center
• COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
• Collagen IV (alpha3-alpha4) nephropathy
• Collagen IV and Podocyte-Related Gene Variants in Patients with Concurrent IgA Nephropathy and Thin Basement Membrane Nephropathy
• Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families
• Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
• Consider thin basement membrane nephropathy as a possible cause of asymptomatic microscopic hematuria
• Diagnosis of Alport syndrome
• Direct observation of epoxy resin blocks for renal biopsy by low-vacuum scanning electron microscopy
• Do I hear what you hear? Two cases and discussion
• Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy
• Familial hematuria: A review
• Familial massive leiomyoma with esophageal leiomyomatosis: an unusual presentation in a father and his 2 daughters
• Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis
• From Alport syndrome to benign familial hematuria: clinical and genetic aspect
• From red to white urine: a patient's nightmare with a rather benign outcome
• Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice
• Genetic variants of familial hematuria associated genes in three families with hematuria with probands initially diagnosed as IgA nephropathy
• Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients
• Glomerular kidney disease clinically manifesting as mainly hematuria or blood in the urine
• Haemangiomas in kidneys with end-stage renal disease: a novel clinicopathological association
• Hematuria and risk for end-stage kidney disease
• Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?
• Heterozygous Urinary Abnormality-Causing Variants of <em>COL4A3</em> and <em>COL4A4</em> Affect Severity of Autosomal Recessive Alport Syndrome
• How benign is hematuria? Using genetics to predict prognosis
• How genomics reclassifies diseases: the case of Alport syndrome
• Identification of <em>COL4A4</em> variants in Chinese patients with familial hematuria
• Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy
• Identification of COL4A4 variants in Chinese patients with familial hematuria
• Improving mutation screening in familial hematuric nephropathies through next generation sequencing
• Incidence of end-stage renal disease in the Turkish-Cypriot population of Northern Cyprus: a population based study
• Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations
• Inherited diseases of the glomerular basement membrane
• Isolated microscopic haematuria of glomerular origin: clinical significance and diagnosis in the 21st century
• Loin pain haematuria syndrome
• Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy
• Midterm Outcome of Kidney Transplantation From Donors With Thin Basement Membrane Nephropathy
• Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife
• Molecular genetics of familial hematuric diseases
• Morphological assessment of thin basement membrane disease
• Morphological diagnosis of Alport syndrome and thin basement membrane nephropathy by low vacuum scanning electron microscopy
• Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait
• Mutation Analysis of Thin Basement Membrane Nephropathy
• Mutations in Collagen Genes in the Context of an Isolated Population
• Nephrotic-range proteinuria in an infant with thin basement membrane nephropathy
• New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3
• Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss
• Novel heterozygous COL4A3 mutation in a family with late-onset ESRD
• Nutcracker syndrome associated with thin basement membrane nephropathy
• Paediatric diffuse oesophageal leiomyomatosis with Alport syndrome
• Pathologic glomerular characteristics and glomerular basement membrane alterations in biopsy-proven thin basement membrane nephropathy
• Pediatric glomerular hematuria: a clinicopathological study
• Persistent familial hematuria in children and the locus for thin basement membrane nephropathy
• Pheochromocytoma in children and adolescents: a clinical spectrum
• Prospective study on the potential of RAAS blockade to halt renal disease in Alport syndrome patients with heterozygous mutations
• Renal biopsy findings and clinical indicators of patients with hematuria without overt proteinuria
• Renal manifestations of primary mitochondrial disorders
• Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria
• Spectrum of collagen type IV nephropathies: from thin basement membrane nephropathy to Alport syndrome
• The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family
• The importance of ultrastructural examination in diagnosis of glomerular kidney diseases
• The ratios of urinary β2-microglobulin and NAG to creatinine vary with age in children
• Thin Basement Membrane Nephropathy (Benign Familial Hematuria)
• Thin Basement Membrane Nephropathy (Benign Familial Hematuria)
• Thin basement membrane nephropathy associated with minimal change disease in a 15-year-old boy
• Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology Group
• Thin glomerular basement membrane nephropathy: incidence in 3471 consecutive renal biopsies examined by electron microscopy
• Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes
• Tubulointerstitial B-cell infiltration and tertiary lymphoid tissue in adult-onset immunoglobulin A vasculitis with nephritis
• Ultrastructural alterations in renal biopsy leading to the diagnosis of HIV infection
• Ultrastructural defects of the glomerular basement membranes associated with primary glomerular nephropathies
• Ureteroscopic evaluation and treatment of benign essential hematuria: a systematic review
• X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure