Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.
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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 9qterA 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardationCryptic subtelomeric rearrangements and X chromosome mosaicism: a study of 565 apparently normal individuals with fluorescent in situ hybridization.Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability.Learning difficulties: what the neurologist needs to know.Telomeres: a diagnosis at the end of the chromosomesGenomic microarrays in human genetic disease and cancer.Chromosome analysis: what and when to request"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements.Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.Absence of subtelomeric rearrangements in selected patients with mental retardation as assessed by multiprobe T FISH.Screening of subtelomeric rearrangements in 100 Korean Pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization).To determine the frequency of subtelomeric abnormalities in children with idiopathic mental retardation.Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation.Cytogenetic findings in mentally retarded Iranian patients.Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities.Delineation of subtelomeric deletion of the long arm of chromosome 6.Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ hybridization (FISH)Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism.Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.Subtelomeric rearrangements as neutral genomic polymorphisms.Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH.
P2860
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P2860
Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.
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2002 nî lūn-bûn
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2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի օգոստոսին հրատարակված գիտական հոդված
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2002年の論文
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2002年論文
@yue
2002年論文
@zh-hant
2002年論文
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2002年論文
@zh-mo
2002年論文
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2002年论文
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name
Prospective screening for subt ...... ogy: the Amsterdam experience.
@ast
Prospective screening for subt ...... ogy: the Amsterdam experience.
@en
type
label
Prospective screening for subt ...... ogy: the Amsterdam experience.
@ast
Prospective screening for subt ...... ogy: the Amsterdam experience.
@en
prefLabel
Prospective screening for subt ...... ogy: the Amsterdam experience.
@ast
Prospective screening for subt ...... ogy: the Amsterdam experience.
@en
P2093
P2860
P356
P1476
Prospective screening for subt ...... ogy: the Amsterdam experience.
@en
P2093
Bijlsma EK
Hennekam RC
Hoovers JM
Koevoets C
Redeker EJ
Sluijter S
van Karnebeek CD
P2860
P304
P356
10.1136/JMG.39.8.546
P407
P577
2002-08-01T00:00:00Z