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

Phenotype in patients with intellectual disability and pathological results in array CGH.

Neurologia (Barcelona, Spain) - 1 Jan 2000

Caballero Pérez V, López Pisón F J, Miramar Gallart M D, González Álvarez A, García Jiménez M C, García Iñiguez J P, Orden Rueda C, Gil Hernández I, Fuertes Rodrigo C, Fernando Martínez R, Rodríguez Valle A, Alcaine Villarroya M J

Abstract excerpt

INTRODUCTION: Global developmental delay (GDD) and intellectual disability (ID) are frequent reasons for consultation in paediatric neurology departments. Nowadays, array comparative genomic hybridisation (array-CGH) is one of the most widely used techniques for diagnosing these disorders. Our purpose was to determine the phenotypic features associated with pathological results in this genetic test. METHODS: We...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Intellectual Disability

Share to Phenotype

Source

Identifiers

PMID: 27157524
DOI: 10.1016/j.nrl.2016.03.006

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

Phenotype in patients with intellectual disability and pathological results in array CGH.PMID 27157524Read ↗

Phenotype profiling of patients with intellectual disability and copy number variations.Semantic proximity Read ↗

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?Semantic proximity Read ↗

Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patientsSemantic proximity Read ↗

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.Semantic proximity Read ↗

Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.Semantic proximity Read ↗

Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis.Semantic proximity Read ↗

Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability.Semantic proximity Read ↗

Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disabilitySemantic proximity Read ↗

Copy number variation analysis of patients with intellectual disability from North-West Spain.Semantic proximity Read ↗

Genetic basis of intellectual disability.Semantic proximity Read ↗

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.Semantic proximity Read ↗

Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability.Semantic proximity Read ↗

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