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Article

Improving preimplantation genetic diagnosis for Fragile X syndrome: two new powerful single-round multiplex indirect and direct tests.

European journal of human genetics : EJHG - 1 Feb 2016

Kieffer Emmanuelle, Nicod Jean-Christophe, Gardes Nathalie, Kastner Claire, Becker Nicolas, Celebi Catherine, Pirrello Olivier, Rongières Catherine, Koscinski Isabelle, Gosset Philippe, Moutou Céline

Abstract excerpt

Fragile X syndrome (FraX) is caused by the expansion of an unstable CGG repeat located in the Fragile X mental retardation 1 gene (FMR1) gene. Preimplantation genetic diagnosis (PGD) can be proposed to couples at risk of transmitting the disease, that is, when the female carries a premutation or...

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Identifiers

PMID: 25966634
DOI: 10.1038/ejhg.2015.96
PMCID: PMC4717215

Genes

PGD
FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25966634-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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