Discover Community Create You

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

Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney Transplantation.

Transplantation - 1 Nov 2020

Pinto Anna Maria, Daga Sergio, Fallerini Chiara, Bruttini Mirella, Baldassarri Margherita, Giliberti Annarita, Frullanti Elisa, Guarnieri Andrea, Garosi Guido, Renieri Alessandra

Abstract excerpt

BACKGROUND: Alport syndrome is a hereditary nephropathy caused by mutations in collagen IV genes and characterized by ultrastructural lesions of the glomerular basement membrane. Some patients have a negative family history with apparently de novo mutations. Although somatic mosaicism has been postulated, as cryptic mosaicism cannot be detected from mutational screening on peripheral blood samples, cases in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, X
Share to Collagen Type IV

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Donor Selection

Share to Heredity

Share to Living Donors

Share to Mothers

Share to Nephritis, Hereditary

Share to Nuclear Family

Source

Identifiers

PMID: 31895869
DOI: 10.1097/TP.0000000000003104

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney Transplantation.PMID 31895869Read ↗

Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.Semantic proximity Read ↗

Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome.Semantic proximity Read ↗

Novel COL4A5 mutation in preimplantation genetic diagnosis of a patient with Alport syndromSemantic proximity Read ↗

Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.Semantic proximity Read ↗

Identification of Novel COL4A5 Variants and Prenatal Diagnosis in Three Large FamiliesSemantic proximity Read ↗

Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.Semantic proximity Read ↗

X-Linked Glomerulopathy Due to COL4A5 Founder Variant.Semantic proximity Read ↗

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport SyndromeSemantic proximity Read ↗

Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?Semantic proximity Read ↗

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.Semantic proximity Read ↗

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsSemantic proximity Read ↗

Female X-linked Alport syndrome with somatic mosaicism.Semantic proximity Read ↗

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