Nanowerk

Microarray Definition: How DNA Microarrays Work, Types, and Uses

Definition: A microarray is a small, flat substrate carrying an ordered grid of microscopic probe features, each containing a known biological molecule, that is used to measure many molecular targets ...
gut.bmj

Multiple putative oncogenes at the chromosome 20q amplicon contribute to colorectal adenoma to carcinoma progression

Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands Department of Gastroenterology, VU University Medical Center, Amsterdam, The Netherlands Dr G A Meijer, Department of ...
ahajournals.org

Rapid Genome Sequencing Shows Diagnostic Utility in Infants With Congenital Heart Defects

Congenital heart disease (CHD) is the most common birth defect and a leading cause of infant mortality. CHD often has a genetic cause, and recent studies demonstrate the utility of genetic testing. In ...
jmg.bmj

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

* Members of the consortia are listed in the Supplemental Appendix. Background The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum ...
Frontiers

RUNX1-FPDMM in families with mild thrombocytopenia and platelet function anomalies: a case series

RUNX1-familial platelet disorder with associated myeloid malignancy (RUNX1-FPDMM) is caused by heterozygous germline variants of RUNX1. With the broader application of next-generation sequencing (NGS) ...
Frontiers

Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity

Of the 332 probands, 134 (40.4%) received molecular diagnoses. Of these, 116/134 (86.6%) were diagnosed by ES alone. An additional 15/134 (11.2%) were diagnosed by CMA alone, including two likely de ...
SciELO

Autism and duplication of 17q12q21.2 by array-CGH: a case report

Objective: Autism spectrum disorder (ASD) affects cognitive development and social interaction on different levels. Genetic and environmental factors are associated with secondary ASD. Genetic ...
Europe PMC

Increased nuchal translucency with normal karyotype and genomic microarray analysis: A multicenter observational study.

To define the residual risk of morbidity-related outcome in fetuses with nuchal translucency (NT) of 3.5 mm or more after normal genetic testing and mid-trimester anomaly scan. A total of 114 fetuses ...
Europe PMC

Genetic testing for the epilepsies: A systematic review.

Numerous genetic testing options for individuals with epilepsy have emerged over the past decade without clear guidelines regarding optimal testing strategies. We performed a systematic evidence ...
Scientific Research Publishing

Pineda, J.A. (2008) Sensorimotor Cortex as a Critical Component of an “Extended” Mirror Neuron System: Does It Solve the Development, Correspondence, and Control Problems ...

ABSTRACT: Genomic analysis has emphasized the enormous genetic contribution to autism spectrum disorders, with over 80% of patients having changes demonstrable by high resolution chromosome ...
Scientific Research Publishing

Kandel, E.R. and Squire, L.R. (2000) Neuroscience: Breaking down Scientific Barriers to the Study of Brain and Mind. Science, 290, 1113-1120.

ABSTRACT: Genomic analysis has emphasized the enormous genetic contribution to autism spectrum disorders, with over 80% of patients having changes demonstrable by high resolution chromosome ...