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

Collaborative prospective study of the fragile X syndrome: one-year progress report.

American journal of medical genetics - 1 Jan 2000

Sherman S L, Barbi G, Brøndum-Nielsen K, Brown W T, Carpenter N J, Chudley A E, Ferraz O P, Ferreira P, Gustavson K H, Halliday J

Abstract excerpt

A prospective study of the fragile X syndrome [fra(X)] was initiated one year ago to refine the estimates of recurrence risks based on the phenotype of the mother and the family history of the syndrome. The basic unit of data consists of the description of the conceptus of women known to carry the fra(X) gene or of mothers of an isolated case. To date, information on 261 women and their conceptuses was...

Read the complete abstract on PubMed

Topics

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

Share to Fragile X Syndrome
Share to Heterozygote

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

Share to Intelligence

Share to Phenotype

Share to Pregnancy

Share to Pregnancy Outcome

Share to Risk Factors

Source

Identifiers

PMID: 1605212
DOI: 10.1002/ajmg.1320430155

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

Collaborative prospective study of the fragile X syndrome: one-year progress report.PMID 1605212Read ↗

Collaborative prospective study of the fragile X syndrome: request for participation.Semantic proximity Read ↗

Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses.Semantic proximity Read ↗

Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females.Semantic proximity Read ↗

Fragile X-linked mental retardation and the difficulties of reverse genetics.Semantic proximity Read ↗

The fragile X premutation in carriers and its effect on mutation size in offspring.Semantic proximity Read ↗

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.Semantic proximity Read ↗

The fragile X syndrome: no evidence for any recent mutations.Semantic proximity Read ↗

Screening for fragile X syndrome in women of reproductive ageSemantic proximity Read ↗

Fragile X syndrome: a hypothesis regarding the molecular mechanism of the phenotype.Semantic proximity Read ↗

Penetrance of fra(X) gene: influence of grandparental origin of the gene, mental status of the carrier mother, and presence of a normal transmitting male.Semantic proximity Read ↗

[Screening for fragile X syndrome. International experiences].Semantic proximity Read ↗

[Fragile X syndrome confirmed by molecular analysis: a case-control study with pre and post-puberal patients].Semantic proximity Read ↗

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