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

Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly.

Journal of neuropathology and experimental neurology - 10 Sept 2021

Brock Stefanie, Michotte Alex, Doné Elisa, Leus Astrid, Cannie Mieke, De Pierre Kari, Forsyth Ramses, Stouffs Katrien, Keymolen Kathelijn, Dimitrov Boyan, Fieuw Annelies, Jansen Anna C, Van Berkel Kim

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type IV
Share to Intracranial Hemorrhages
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pregnancy

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 33846711
DOI: 10.1093/jnen/nlab026

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly.PMID 33846711Read ↗

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.Semantic proximity Read ↗

COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria.Semantic proximity Read ↗

Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage.Semantic proximity Read ↗

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Semantic proximity Read ↗

Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant.Semantic proximity Read ↗

Prenatal clinical manifestations in individuals with COL4A1/2 variants.Semantic proximity Read ↗

COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis.Semantic proximity Read ↗

Expanding the phenotype of COL4A1-related disorders-Four novel variants.Semantic proximity Read ↗

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.Semantic proximity Read ↗

Fetal intracerebral hemorrhage and COL4A1 mutation: promise and uncertainty.Semantic proximity Read ↗

De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature.Semantic proximity Read ↗

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.Semantic proximity Read ↗

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