Utilizing multiplex ligation-dependent probe amplification to detect novel x -linked microduplications which cause intellectual disability
Explore this paper's citation graph
Summary
Cohorts of intellectually disabled ID individuals were explored with new technologies and the focus on Rho, Ras and Rab genes, a family of genes known to be associated with intellectual disabilities, were screened for dosage aberrations.
- Type
- article
- Published
- 2008-01-01
- Cited by
- 0
- References
- 200
- Access
- Open access
- OpenAlex
- https://openalex.org/W17452421
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:68068578
Keywords
Multiplex, Multiplex ligation-dependent probe amplification, Genetics, Computer science, Biology
References
- A novel Rab GTPase, Rab33B, is ubiquitously expressed and localized to the medial Golgi cisternae.
- Apoptosis-inducing factor: vital and lethal.
- Rab33A: characterization, expression, and suppression by epigenetic modification.
- A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom.
- Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.
- The GTPase Rab3a negatively controls calcium‐dependent exocytosis in neuroendocrine cells.
- Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation
- Inhibition of apoptosis‐inducing factor translocation is involved in protective effects of hepatocyte growth factor against excitotoxic cell death in cultured hippocampal neurons
- Recombinant P‐selectin glycoprotein‐ligand‐1 delays thrombin‐induced platelet aggregation: a new role for P‐selectin in early aggregation
- Characterization of the Ikappa B-kinase NEMO binding domain.
- Detection of tandem duplications and implications for linkage analysis.
- Open brain, a new mouse mutant with severe neural tube defects, shows altered gene expression patterns in the developing spinal cord.
- XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
- Accumulation of mutations and somatic selection in aging neural stem/progenitor cells
- Interaction analysis of prenylated Rab GTPase with Rab escort protein and GDP dissociation inhibitor explains the need for both regulators
- Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
- Differential dynamics of Rab3A and Rab27A on secretory granules
- Mediation of Poly(ADP-Ribose) Polymerase-1-Dependent Cell Death by Apoptosis-Inducing Factor
- Association between microdeletion and microduplication at 16p11.2 and autism.
- Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor.
Cited by
No citing papers recorded for this paper.
Related papers
- Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a novel microduplication in ASMT
- [Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology].
- Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: A study in 203 Indian patients
- Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability
- Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders.
- Bioinformatic analysis of microduplications at 5p15.33: identification of TPPP as a candidate gene for autism and intellectual disability
- Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders
- A novel missense mutation in the UBE2A gene causes intellectual disability in the large X‐linked family