Subtle chromosomal rearrangements in children with unexplained mental retardation
about
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 9qterGenetics evaluation for the etiologic diagnosis of autism spectrum disorders3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilitiesA 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardationSW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization databeta-1,3-Glucuronyltransferase-1 gene implicated as a candidate for a schizophrenia-like psychosis through molecular analysis of a balanced translocationMicrodeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disabilityThe evolutionary origin of human subtelomeric homologies--or where the ends beginTHE COMPLEX STRUCTURE AND DYNAMIC EVOLUTION OF HUMAN SUBTELOMERESSubtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.Cryptic translocation identification in human and mouse using several telomeric multiplex fish (TM-FISH) strategies.Complex aetiology of an apparently Mendelian form of mental retardation.Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.Molecular cytogenetics and cytogenomics of brain diseases.Cryptic subtelomeric rearrangements and X chromosome mosaicism: a study of 565 apparently normal individuals with fluorescent in situ hybridization.Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation.Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs.Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.Microarray analysis of cell-free fetal DNA in amniotic fluid: a prenatal molecular karyotype.Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair.Genomics, intellectual disability, and autismPerfect endings: a review of subtelomeric probes and their use in clinical diagnosisGenome-wide algorithm for detecting CNV associations with diseases.Diagnostic genome profiling in mental retardation.An optimized set of human telomere clones for studying telomere integrity and architecture.The genetic basis of non-syndromic intellectual disability: a reviewDisruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.Advanced age increases chromosome structural abnormalities in human spermatozoa.Genetics and pathophysiology of mental retardation.Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities.Medical applications of array CGH and the transformation of clinical cytogenetics.American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation.Telomeres: a diagnosis at the end of the chromosomesChromosome analysis: what and when to requestClinical studies on submicroscopic subtelomeric rearrangements: a checklist."Molecular rulers" for calibrating phenotypic effects of telomere imbalance.High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH)
P2860
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P2860
Subtle chromosomal rearrangements in children with unexplained mental retardation
description
1999 nî lūn-bûn
@nan
1999 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Subtle chromosomal rearrangements in children with unexplained mental retardation
@ast
Subtle chromosomal rearrangements in children with unexplained mental retardation
@en
Subtle chromosomal rearrangements in children with unexplained mental retardation
@nl
type
label
Subtle chromosomal rearrangements in children with unexplained mental retardation
@ast
Subtle chromosomal rearrangements in children with unexplained mental retardation
@en
Subtle chromosomal rearrangements in children with unexplained mental retardation
@nl
prefLabel
Subtle chromosomal rearrangements in children with unexplained mental retardation
@ast
Subtle chromosomal rearrangements in children with unexplained mental retardation
@en
Subtle chromosomal rearrangements in children with unexplained mental retardation
@nl
P2093
P3181
P1433
P1476
Subtle chromosomal rearrangements in children with unexplained mental retardation
@en
P2093
R M Winter
S J Knight
S W Horsley
P304
P3181
P356
10.1016/S0140-6736(99)03070-6
P407
P577
1999-11-13T00:00:00Z