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

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

Clinical genetics - 1 May 2014

Alías L, Barceló M J, Bernal S, Martínez-Hernández R, Also-Rallo E, Vázquez C, Santana A, Millán J M, Baiget M, Tizzano E F

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations in the survival motor neuron1 gene (SMN1). Global carrier frequency is around 1 in 50 and carrier detection is crucial to define couples at risk to have SMA offspring. Most SMA carriers have one SMN1 copy and are currently detected using quantitative methods. A few, however, have two SMN1 genes in cis (2/0 carriers), complicating...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Gene Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

Share to Genetic Counseling

Share to Heterozygote

Share to Muscular Atrophy, Spinal

Share to Prenatal Diagnosis

Share to Survival of Motor Neuron 1 Protein

Source

Identifiers

PMID: 23799925
DOI: 10.1111/cge.12222

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

Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene.PMID 23799925Read ↗

Spinal muscular atrophy carriers with two SMN1 copies.Semantic proximity Read ↗

Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype.Semantic proximity Read ↗

Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA).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 ↗

A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counselingSemantic proximity Read ↗

Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minorsSemantic proximity Read ↗

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.Semantic proximity Read ↗

An Effective and Universal Long-Read Sequencing-Based Approach for SMN1 2 + 0 Carrier Screening through Family Trio Analysis.Semantic proximity Read ↗

Newborn and carrier screening for spinal muscular atrophy.Semantic proximity Read ↗

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

Comprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number, Intragenic Mutation, and 2 + 0 Carrier Analysis by Third-Generation Sequencing.Semantic proximity Read ↗

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