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

Topics Community

Article

[Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome].

Orvosi hetilap - 1 Jan 2018

Ács Orsolya Dóra, Péterfia Bálint, Hollósi Péter, Haltrich Irén, Sallai Ágnes, Luczay Andrea, Buiting Karin, Horsthemke Bernhard, Török Dóra, Szabó András, Fekete György

Abstract excerpt

INTRODUCTION: According to the international literature, DNA methylation analysis of the promoter region of SNRPN locus is the most efficient way to start genetic investigation in patients with suspected Prader-Willi syndrome. AIM: Our aim was to develop a simple, reliable first-tier diagnosis to confirm Prader-Willi syndrome, therefore to compare our self-designed simple, cost-efficient high-resolution melting...

Topics

Child
Child, Preschool
Chromosomes, Human, Pair 15
Female
Genotype
Humans
Male
Nucleic Acid Amplification Techniques
Polymerase Chain Reaction
Prader-Willi Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 29307221
DOI: 10.1556/650.2018.30918

Genes

SNRPN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome].PMID 29307221Read ↗

[Analysis of differences in clinical and biochemical characteristics and treatment effects in patients with different genotypes of Prader-Willi syndrome].Semantic proximity Read ↗

Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.Semantic proximity Read ↗

Molecular diagnosis of Prader-Willi syndrome.Semantic proximity Read ↗

[Molecular diagnosis of Prader-Willi and Angelman syndromes: methylation, cytogenetics and FISH analysis].Semantic proximity Read ↗

Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients.Semantic proximity Read ↗

A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromesSemantic proximity Read ↗

Newborn screening for Prader–Willi syndrome is feasible: Early diagnosis for better outcomesSemantic proximity Read ↗

Prader-Willi syndrome: genetic tests and clinical findings.Semantic proximity Read ↗

[Genetic basis of Prader-Willi and Angelman syndromes: implications for the biologic diagnosis].Semantic proximity Read ↗

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patientsSemantic proximity Read ↗

Prader–Willi syndrome can be diagnosed prenatallySemantic proximity Read ↗

Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes.Semantic proximity Read ↗

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