Pages that link to "Q35444544"
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The following pages link to Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). (Q35444544):
Displaying 50 items.
- Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter (Q21261458) (← links)
- 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome (Q24533585) (← links)
- Further characterization of microdeletion syndrome involving 2p15‐p16.1 (Q24600096) (← links)
- Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome (Q24669780) (← links)
- Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation (Q28258859) (← links)
- Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre (Q33276927) (← links)
- Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d-transposition of the great arteries (Q33960825) (← links)
- Diagnostic genome profiling in mental retardation (Q34114527) (← links)
- Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. (Q34408206) (← links)
- Contribution of rare copy number variants to isolated human malformations (Q34440954) (← links)
- Genetics and pathophysiology of mental retardation (Q34529963) (← links)
- Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. (Q34550767) (← links)
- Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study (Q34982585) (← links)
- Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome (Q35768382) (← links)
- "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements (Q35771922) (← links)
- Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome (Q36020010) (← 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)
- X linked mental retardation: a clinical guide (Q36239035) (← links)
- Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports (Q36402087) (← links)
- Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation (Q36430804) (← links)
- Diagnostic genome profiling: unbiased whole genome or targeted analysis? (Q36634758) (← links)
- Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability (Q36689180) (← links)
- Screening of subtelomeric rearrangements in 100 Korean Pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization). (Q36854087) (← links)
- Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation (Q37139243) (← links)
- Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability (Q37540387) (← 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)
- Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients (Q37715240) (← links)
- Delineation of subtelomeric deletion of the long arm of chromosome 6. (Q37939276) (← links)
- Making headway with genetic diagnostics of intellectual disabilities (Q38124929) (← links)
- Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis (Q38286640) (← links)
- A clinical case report and literature review of the 3q29 microdeletion syndrome. (Q38365109) (← 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)
- Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats. (Q41838383) (← links)
- Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience (Q43205026) (← links)
- Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia (Q44196200) (← links)
- Variation of CNV distribution in five different ethnic populations (Q46252280) (← links)
- SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes (Q47874665) (← links)
- Most Martin-Bell syndrome (FMR1-related disorder) Venezuelan patients did not show CGG expansion but instead display genetic heterogeneity (Q47920957) (← links)
- Primed in situ labeling technique for subtelomeric rearrangements in 70 children with idiopathic mental retardation. (Q50776298) (← links)
- Use of Multiplex Ligation-Dependent Probe Amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation. (Q51860740) (← links)
- Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions. (Q51892018) (← links)
- Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches. (Q51895692) (← links)
- Subtelomeric imbalances in phenotypically normal individuals. (Q51903797) (← links)
- MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation. (Q51906849) (← links)
- 3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs. (Q51930213) (← links)
- Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay. (Q52039118) (← links)