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

Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome.

European journal of pediatrics - 1 Aug 2010

Lima Kari, Følling Ivar, Eiklid Kristin L, Natvig Solveig, Abrahamsen Tore G

Abstract excerpt

Patients with the 22q11.2 deletion syndrome display a wide phenotypic variation that is important for clinical follow-up. In this national survey of 60 patients (ages 1 to 54 years) diagnosed by Fluorescence in situ hybridization test, data were collected from medical records, a physical examinat...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 22
Share to DiGeorge Syndrome
Share to Fluorescence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genitalia

Share to Infections

Share to Learning Disabilities

Share to Medical Records

Share to Norway

Source

Identifiers

PMID: 20186429
DOI: 10.1007/s00431-010-1161-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20186429-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome.PMID 20186429Read ↗

The 22q11.2 deletion syndrome.Semantic proximity Read ↗

An Overview of the Trajectory of Brazilian Individuals with 22q11.2 Deletion Syndrome Until Diagnosis.Semantic proximity Read ↗

Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).Semantic proximity Read ↗

[Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum].Semantic proximity Read ↗

Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).Semantic proximity Read ↗

Presenting phenotype in 100 children with the 22q11 deletion syndrome.Semantic proximity Read ↗

[22q11.2 deletion syndrome: importance of clinical evaluation and FISH analysis].Semantic proximity Read ↗

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Cinical ApproachSemantic proximity Read ↗

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of PhiladelphiaSemantic proximity Read ↗

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical ApproachSemantic proximity Read ↗

22q11.2 duplications: Expanding the clinical presentation.Semantic proximity Read ↗

Developmental trajectories in 22q11.2 deletion syndromeSemantic proximity Read ↗

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