Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[The first experience in Russia of using DNA diagnosis in Alport's syndrome in a family with a unique morphological picture of the kidney lesion].

Terapevticheskii arkhiv - 1 Jan 1995

Tsalikova F D, Ignatova M S, Krasnopol'skaia K D, Tverskaia S M, Brydun A V

Abstract excerpt

Clinicomorphological findings are reported for two children from families with hereditary predisposition to hematuria characterized by early occurrence of chronic renal insufficiency, neurosensory hypoacusis, congenital ocular abnormalities inherited by sex-linked dominant type. Light microscopy of nephrobiopsies revealed diffuse mesangial proliferation in both children. Final diagnosis of Alport's syndrome was...

Topics

Adolescent
Adult
Biopsy
Collagen
DNA
Diagnosis, Differential
Female
Genetic Linkage
Humans
Kidney
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nephritis, Hereditary

Pedigree

Polymerase Chain Reaction

Russia

X Chromosome

Source

Identifiers

PMID: 7784975

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7784975-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[The first experience in Russia of using DNA diagnosis in Alport's syndrome in a family with a unique morphological picture of the kidney lesion].PMID 7784975Read ↗

[From Alport syndrome to benign familial hematuria: clinical and genetic aspect].Semantic proximity Read ↗

[Alport's syndrome: new findings].Semantic proximity Read ↗

Contemporary diagnostic approach in Alport's syndrome.Semantic proximity Read ↗

[Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains].Semantic proximity Read ↗

[Contribution of genetics to knowledge and management of hereditary kidney diseases progressing to renal failure].Semantic proximity Read ↗

Macroscopic hematuria with normal renal biopsy-following the chain to the diagnosis: Answers.Semantic proximity Read ↗

[Collagen type IV nephropathy: from thin basement membrane nephropathy to Alport syndrome].Semantic proximity Read ↗

The importance of non-invasive genetic analysis in the initial diagnostics of Alport syndrome in young patients.Semantic proximity Read ↗

Macroscopic hematuria with normal renal biopsy-following the chain to the diagnosis: Questions.Semantic proximity Read ↗

[Comparison of phenotypic features between patients with X-linked and autosomal recessive Alport syndrome].Semantic proximity Read ↗

[Collagen IV (alpha3-alpha4) nephropathy].Semantic proximity Read ↗

Autosomal dominant Alport's syndrome: study of a large Tunisian family.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.