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

Prenatal diagnosis for risk of spinal muscular atrophy.

BJOG : an international journal of obstetrics and gynaecology - 1 Nov 2002

Cuscó I, Barceló M J, Soler C, Parra J, Baiget M, Tizzano E

Abstract excerpt

OBJECTIVES: Prenatal diagnosis of spinal muscular atrophy is usually performed in high risk couples by detection of a homozygous deletion in the survival motor neurone gene (SMN1). However, other relatives at risk of being carriers very often request genetic counselling and the possibility of prenatal diagnosis. The aim of this study was to validate a SMN1 gene quantitative test to help the couples formed by one...

Read the complete abstract on PubMed

Topics

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

Share to Cyclic AMP Response Element-Binding Protein
Share to Genetic Carrier Screening

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Prenatal Diagnosis

Share to RNA-Binding Proteins

Share to Sensitivity and Specificity

Share to SMN Complex Proteins

Share to Spinal Muscular Atrophies of Childhood

Share to Survival of Motor Neuron 1 Protein

Source

Identifiers

PMID: 12452462

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis for risk of spinal muscular atrophy.PMID 12452462Read ↗

[Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results].Semantic proximity Read ↗

Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.Semantic proximity Read ↗

Genetic risk assessment in carrier testing for spinal muscular atrophy.Semantic proximity Read ↗

Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.Semantic proximity Read ↗

Haplotype-based noninvasive prenatal diagnoses of 36 fetuses with spinal muscular atrophy in the real clinical environment at early gestation ageSemantic proximity Read ↗

Technical standards and guidelines for spinal muscular atrophy testing.Semantic proximity Read ↗

Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis.Semantic proximity Read ↗

Genetic testing and risk assessment for spinal muscular atrophy (SMA).Semantic proximity Read ↗

Spinal muscular atrophy diagnostics.Semantic proximity Read ↗

Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene.Semantic proximity Read ↗

Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number.Semantic proximity Read ↗

Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort StudySemantic proximity Read ↗

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