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

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

Revista medica de Chile - 1 Apr 2001

Santa María L, Curotto B, Cortés F, Rojas C, Alliende M A

Abstract excerpt

BACKGROUND: The diagnosis of Prader-Willi and Angelman syndromes is difficult, since their phenotypic manifestations are variable and unspecific. The study of the methylation state of DNA in 15(q11-q13) using polymerase chain reaction, called methylation test, allows the diagnosis of most patients with Prader-Willi and Angelman syndromes, irrespective if the underlying molecular alteration is a deletion,...

Read the complete abstract on PubMed

Topics

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

Share to Angelman Syndrome
Share to Child, Preschool
Share to DNA Methylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to In Situ Hybridization, Fluorescence

Share to Infant

Share to Karyotyping

Share to Polymerase Chain Reaction

Share to Prader-Willi Syndrome

Source

Identifiers

PMID: 11413988

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Molecular diagnosis of Prader-Willi and Angelman syndromes: methylation, cytogenetics and FISH analysis].PMID 11413988Read ↗

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13Semantic proximity Read ↗

Prader-Willi and Angelman Syndromes: Mechanisms and Management.Semantic proximity Read ↗

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

Prader-Willi and Angelman syndromes. Disorders of genomic imprinting.Semantic proximity Read ↗

Genetics of Prader–Willi and Angelman syndromes: 2024 updateSemantic proximity Read ↗

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

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

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

Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report.Semantic proximity Read ↗

[From the clinical to the genetic diagnosis of Prader-Willi and Angelman syndromes].Semantic proximity Read ↗

Prader-Willi and Angelman syndromes: update on genetic mechanisms and diagnostic complexities.Semantic proximity Read ↗

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencingSemantic proximity Read ↗

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