Pages that link to "Q51944545"

The following pages link to Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA). (Q51944545):

Displaying 39 items.

• Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India (Q30009572) (← links)
• Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre (Q33276927) (← links)
• Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation (Q33575502) (← links)
• Genetic variation of the Fc gamma receptor 3B gene and association with rheumatoid arthritis. (Q33722090) (← links)
• High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs (Q34106761) (← links)
• Contribution of rare copy number variants to isolated human malformations (Q34440954) (← links)
• Subtelomeric multiplex ligation-dependent probe amplification as a supplement for rapid prenatal detection of fetal chromosomal aberrations (Q34695633) (← links)
• Molecular karyotyping using an SNP array for genomewide genotyping. (Q35444340) (← links)
• Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). (Q35444544) (← links)
• Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification (Q35447455) (← links)
• "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements (Q35771922) (← links)
• Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability. (Q35888762) (← links)
• Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods. (Q36120016) (← links)
• Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods (Q36147917) (← links)
• Capillary electrophoresis and the clinical laboratory (Q36485723) (← links)
• Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability (Q36689180) (← links)
• New applications and developments in the use of multiplex ligation-dependent probe amplification (Q37340439) (← links)
• Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation (Q37632001) (← links)
• Approach to the diagnosis of developmental delay - the changing scenario (Q37715236) (← links)
• Delineation of subtelomeric deletion of the long arm of chromosome 6. (Q37939276) (← links)
• Detection and interpretation of genomic structural variation in health and disease. (Q38068938) (← links)
• Universal probe amplification: multiplex screening technologies for genetic variations (Q38263265) (← links)
• Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis (Q38286640) (← links)
• Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations (Q38526120) (← links)
• Subtelomeric Microduplications in Three Sisters with Moderate Mental Retardation (Q39067482) (← links)
• Molecular diagnosis utility of multiplex ligation-dependent probe amplification (Q40109275) (← links)
• Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization. (Q41881748) (← links)
• Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non‐selective application of a MLPA‐based extended prenatal panel in routine prenatal diagnosis (Q46209795) (← links)
• Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2. (Q50306682) (← links)
• Use of Multiplex Ligation-Dependent Probe Amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation (Q51860740) (← links)
• Subtelomeric imbalances in phenotypically normal individuals (Q51903797) (← links)
• Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation (Q51912360) (← links)
• Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing (Q51931063) (← links)
• Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay (Q52039118) (← links)
• Feasibility and outcomes of multiplex ligation-dependent probe amplification on buccal smears as a screening method for microdeletions and duplications among 300 adults with an intellectual disability of unknown aetiology (Q56231036) (← links)
• Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation (Q57828426) (← links)
• MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly (Q80758795) (← links)
• Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations (Q81112118) (← links)
• Detecting copy number changes in genomic DNA: MAPH and MLPA (Q81155988) (← links)