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

Spinal muscular atrophy genetic testing experience at an academic medical center.

The Journal of molecular diagnostics : JMD - 1 Feb 2002

Ogino Shuji, Leonard Debra G B, Rennert Hanna, Wilson Robert B

Abstract excerpt

Approximately 94% of spinal muscular atrophy (SMA) patients lack both copies of SMN1 exon 7. We report our SMA genetic testing experience (total 1281 cases), using SMA linkage analysis (32 families), SMA diagnostic testing by PCR-RFLP (restriction fragment length polymorphism) to detect the homozygous absence of SMN1 exon 7 (and exon 8) (533 cases), and an assay to determine copy number of SMN1 exon 7 (SMN1 gene...

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 Gene Dosage

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

Share to Muscular Atrophy, Spinal

Share to Prenatal Diagnosis

Share to RNA-Binding Proteins

Share to Sequence Analysis

Share to SMN Complex Proteins

Share to Survival of Motor Neuron 1 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 11826188
DOI: 10.1016/S1525-1578(10)60680-0
PMCID: PMC1906969

Genes

SMN1

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

Spinal muscular atrophy genetic testing experience at an academic medical center.PMID 11826188Read ↗

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

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

Differences in SMN1 allele frequencies among ethnic groups within North AmericaSemantic proximity Read ↗

Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.Semantic proximity Read ↗

Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy.Semantic proximity Read ↗

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.Semantic proximity Read ↗

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.Semantic proximity Read ↗

Clinical application of the molecular diagnosis of spinal muscular atrophy: deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes.Semantic proximity Read ↗

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Northern- Cyprus populationSemantic proximity Read ↗

Allele-specific amplification of exon 7 in the survival motor neuron (SMN) genes for molecular diagnosis of spinal muscular atrophy.Semantic proximity Read ↗

Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene.Semantic proximity Read ↗

SMA carrier testing: a meta‐analysis of differences in test performance by ethnic groupSemantic proximity Read ↗

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