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

Visual Pathways in Humans With Ephrin-B1 Deficiency Associated With the Cranio-Fronto-Nasal Syndrome.

Investigative ophthalmology & visual science - 1 Nov 2015

Hoffmann Michael B, Thieme Hagen, Liedecke Karin, Meltendorf Synke, Zenker Martin, Wieland Ilse

Abstract excerpt

PURPOSE: Numerous animal studies demonstrated the importance of components of the ephrin/Eph system for correct visual system development. Analogous investigations in humans are entirely missing. Here, we examined the visual system in humans with ephrin-B1 deficiency, which is x-linked and associated with the cranio-fronto-nasal syndrome (CFNS) in heterozygous females. METHODS: For one male hemizygous for...

Read the complete abstract on PubMed

Topics

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

Share to Craniofacial Abnormalities
Share to DNA

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Evoked Potentials, Visual

Share to Syndrome

Share to Tomography, Optical Coherence

Share to Visual Pathways

Share to Young Adult

Source

Identifiers

PMID: 26580852
DOI: 10.1167/iovs.15-17705

Genes

ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Visual Pathways in Humans With Ephrin-B1 Deficiency Associated With the Cranio-Fronto-Nasal Syndrome.PMID 26580852Read ↗

Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates.Semantic proximity Read ↗

Roles of Eph-Ephrin Signaling in the Eye Lens Cataractogenesis, Biomechanics, and HomeostasisSemantic proximity Read ↗

Genetic analysis of ephrin-A2 and ephrin-A5 shows their requirement in multiple aspects of retinocollicular mapping.Semantic proximity Read ↗

Correlation between electroretinography, foveal anatomy and visual acuity in aniridia due to PAX6 mutations.Semantic proximity Read ↗

Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.Semantic proximity Read ↗

Mutation in Bmpr1b Leads to Optic Disc Coloboma and Ventral Retinal Gliosis in Mice.Semantic proximity Read ↗

Visual impairment in FOXG1-mutated individuals and mice.Semantic proximity Read ↗

Multiple EphB receptors mediate dorsal-ventral retinotopic mapping via similar bi-functional responses to ephrin-B1.Semantic proximity Read ↗

Comparisons of structural and functional abnormalities in mouse b-wave mutants.Semantic proximity Read ↗

Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsiaSemantic proximity Read ↗

Eph receptor tyrosine kinase-mediated formation of a topographic map in the Drosophila visual system.Semantic proximity Read ↗

Angiopoietin-1 Knockout Mice as a Genetic Model of Open-Angle GlaucomaSemantic proximity Read ↗

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