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

FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.

Expert reviews in molecular medicine - 19 Jul 2017

Rajan-Babu Indhu-Shree, Lian Mulias, Cheah Felicia S H, Chen Min, Tan Arnold S C, Prasath Ethiraj B, Loh Seong Feei, Chong Samuel S

Abstract excerpt

Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase...

Read the complete abstract on PubMed

Topics

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

Share to Fertilization in Vitro
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Syndrome

Share to Genetic Testing

Share to Pregnancy

Share to Preimplantation Diagnosis

Share to Reproducibility of Results

Share to Trinucleotide Repeats

Source

Open in PubMed Open full text

Identifiers

PMID: 28720156
DOI: 10.1017/erm.2017.10
PMCID: PMC5733830

Genes

PGD
FMR1
AMELX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.PMID 28720156Read ↗

Identification of microsatellite markers <1 Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of fragile X syndrome.Semantic proximity Read ↗

Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers.Semantic proximity Read ↗

Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG.Semantic proximity Read ↗

Molecular screening of intellectually disabled patients and those with premature ovarian failure for CGG repeat expansion at FMR1 locus: Implication of combined triplet repeat primed polymerase chain reaction and methylation-specific polymerase chain reaction analysis.Semantic proximity Read ↗

PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene.Semantic proximity Read ↗

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

Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders.Semantic proximity Read ↗

Reliable and sensitive detection of fragile X (expanded) alleles in clinical prenatal DNA samples with a fast turnaround time.Semantic proximity Read ↗

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.Semantic proximity Read ↗

Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome.Semantic proximity Read ↗

High-Throughput Methylation-Specific Triplet-Primed PCR and Melting Curve Analysis for Selective and Reliable Identification of Actionable FMR1 Genotypes.Semantic proximity Read ↗

Triplet-Primed PCR Assays for Accurate Screening of FMR1 CGG Repeat Expansion and Genotype Verification.Semantic proximity Read ↗

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