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

Direct DNA analysis of fragile X syndrome in Spanish pedigrees.

American journal of medical genetics - 1 Jan 2000

Tejada I, Mornet E, Biancalana V, Oberlé I, Boué J, Mandel J L, Boué A

Abstract excerpt

Eleven complete Spanish pedigrees with fragile X syndrome were analysed by Southern blotting with the DNA probe StB12.3 previously isolated and described by Oberlé et al. [1991]. This probe allowed the direct detection of affected males and carrier females and was able to distinguish between normal males and normal transmitting males (NTMs). One hundred and twenty three individuals were analyzed, 115 from the...

Read the complete abstract on PubMed

Topics

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

Share to DNA
Share to DNA Mutational Analysis
Share to DNA Probes

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

Share to Methylation

Share to Mosaicism

Share to Pedigree

Share to Phenotype

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1351363
DOI: 10.1002/ajmg.1320430144

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

Direct DNA analysis of fragile X syndrome in Spanish pedigrees.PMID 1351363Read ↗

Molecular analysis of 53 fragile X families with the probe StB12.3.Semantic proximity Read ↗

A reinvestigation of thirty three fragile(X) families using probe StB12.3.Semantic proximity Read ↗

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.Semantic proximity Read ↗

[A genetic and molecular study of 85 families affected with the fragile X syndrome].Semantic proximity Read ↗

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental RetardationSemantic proximity Read ↗

[Prevention of fragile X syndrome by prenatal genetic diagnosis: advantages and controversial aspects].Semantic proximity Read ↗

Direct mutation analysis of 495 patients for fragile X carrier status/proband diagnosis.Semantic proximity Read ↗

Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys.Semantic proximity Read ↗

DNA-based genetic testing in fifty fragile X families.Semantic proximity Read ↗

Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disorders.Semantic proximity Read ↗

Methylation and mutation patterns in the fragile X syndrome.Semantic proximity Read ↗

Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe.Semantic proximity Read ↗

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