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

Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2020

Lores Juliana, Prada Carlos E, Ramírez-Montaño Diana, Nastasi-Catanese José A, Pachajoa Harry

Abstract excerpt

Our aim was to characterize the phenotype and genotype of individuals with Noonan syndrome in Colombia. There are published cohorts of Noonan individuals from several countries in Latin America including Brazil, Chile, and Argentina, but none from Colombia. We described 26 individuals with NS from a single large referral center in the South West of Colombia using an established database in the genetics department...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Colombia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Intracellular Signaling Peptides and Proteins

Share to Noonan Syndrome

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Share to SOS1 Protein

Share to Young Adult

Source

Identifiers

PMID: 33300679
DOI: 10.1002/ajmg.c.31869

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

Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia.PMID 33300679Read ↗

New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.Semantic proximity Read ↗

New insights on Noonan syndrome’s clinical phenotype: a single center retrospective studySemantic proximity Read ↗

Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome.Semantic proximity Read ↗

Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.Semantic proximity Read ↗

Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.Semantic proximity Read ↗

Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.Semantic proximity Read ↗

Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.Semantic proximity Read ↗

[Clinical practice guidelines for Noonan syndrome].Semantic proximity Read ↗

Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study.Semantic proximity Read ↗

Molecular and Clinical Profile of patients referred as Noonan or Noonan-like Syndrome in Greece: a cohort of 86 patientsSemantic proximity Read ↗

[A case report of Noonan syndrome diagnosed in primary healthcare].Semantic proximity Read ↗

Concurrent Noonan Syndrome and Sanjad-Sakati Syndrome in a Newborn: First Genetically Confirmed Dual DiagnosisSemantic proximity Read ↗

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