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

Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2002

Lisi V, Guala A, Lopez A, Vitali M, Spadoni E, Olivieri C, Danesino C, Mottes M

Abstract excerpt

The Stickler syndrome is among the most common heritable disorders of connective tissue. The syndrome fully expressed clinical phenotype includes the degeneration of the vitreous gel and retina, frequently associated with myopia, accompanied by non-ocular features, such as craniofacial dysmorphisms or malformations, hearing impairment, skeletal dysplasia and progressive arthropathy. So far, mutations at three...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type II
Share to Connective Tissue Diseases

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

Share to Eye Diseases, Hereditary

Share to Genetic Linkage

Share to Infant

Share to Infant, Newborn

Share to Prenatal Diagnosis

Share to Syndrome

Source

Identifiers

PMID: 12150217

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

Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome.PMID 12150217Read ↗

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.Semantic proximity Read ↗

Stickler syndrome type 2 and linkage to the COL11A1 gene.Semantic proximity Read ↗

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.Semantic proximity Read ↗

High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1.Semantic proximity Read ↗

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.Semantic proximity Read ↗

Correlation of linkage data with phenotype in eight families with Stickler syndrome.Semantic proximity Read ↗

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.Semantic proximity Read ↗

Dominant Stickler SyndromeSemantic proximity Read ↗

Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.Semantic proximity Read ↗

Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1.Semantic proximity Read ↗

PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.Semantic proximity Read ↗

Familial high myopia: evidence of an autosomal dominant mode of inheritance and genetic heterogeneity.Semantic proximity Read ↗

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