Related Experiment Video

Updated: Jul 16, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH

Marjolein Kriek1, Jeroen Knijnenburg, Stefan J White

  • 1Center for Human and Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands. M.Kriek@lumc.nl

American Journal of Medical Genetics. Part A
|February 24, 2007
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Related Experiment Videos

Last Updated: Jul 16, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Related Concept Videos

Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...

Articles linked to this work by shared authors, journal, and citation graph.

Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism.

American journal of medical genetics. Part A·2026

Unusual Association of Orofacial Cleft and Finger-Like Skin Appendages With or Without Constriction Rings: A Disorganization-Like Phenotype?

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association·2026

A Complex Chromosome Rearrangement Disrupting SYT1 Supports Haploinsufficiency as a Cause of Baker-Gordon Syndrome.

Case reports in genetics·2025

Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.

Clinical genetics·2025

Uniparental disomy (UPD) as the cause of inconsistencies in parentage tests: report of maternal UPD of chromosome 2 and review of the literature.

International journal of legal medicine·2025

Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications.

Genes·2025

The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease.

American journal of medical genetics. Part A·2026

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders.

American journal of medical genetics. Part A·2026

The Evaluation of Molecular Genetics and Clinical Manifestations in Patients With LZTR1-Associated Noonan Syndrome: A Retrospective Chart Review and Review of Literature.

American journal of medical genetics. Part A·2026

Expanding the Genotypic and Phenotypic Spectrum of Vissers-Bodmer Syndrome.

American journal of medical genetics. Part A·2026

Clinical and Functional Characterization of Gain-of-Function ABL1 Variants Expands the Phenotypic Spectrum of CHDSKM.

American journal of medical genetics. Part A·2026

Expanding the Clinical and Genetic Spectrum of Schmid Metaphyseal Chondrodysplasia: A Seven-Patient Series Including a Rare Homozygous COL10A1 Case.

American journal of medical genetics. Part A·2026
See all related articles
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies
Jove
Visualize
Contact Us