Subtelomeric rearrangements detected in patients with idiopathic mental retardation. - Wikidata - wikimedia - TriplyDB

Subtelomeric rearrangements detected in patients with idiopathic mental retardation.

Subtelomeric rearrangements detected in patients with idiopathic mental retardation.

http://www.wikidata.org/entity/Q38490510

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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 9qter Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation Genetic testing in congenital heart disease: A clinical approach beta-1,3-Glucuronyltransferase-1 gene implicated as a candidate for a schizophrenia-like psychosis through molecular analysis of a balanced translocation Complex aetiology of an apparently Mendelian form of mental retardation.Cryptic subtelomeric rearrangements and X chromosome mosaicism: a study of 565 apparently normal individuals with fluorescent in situ hybridization.Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.Telomeres: a diagnosis at the end of the chromosomes High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH)Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience."Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements.Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome.Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods Idiopathic learning disability and genome imbalance.Screening of subtelomeric rearrangements in 100 Korean Pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization).Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies.Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus.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 microduplications in three sisters with moderate mental retardation.MLPA subtelomere analysis in Tunisian mentally retarded patients.A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size.6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3).Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.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.Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation.Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients.Array Comparative Genomic Hybridization as the First-line Investigation for Neonates with Congenital Heart Disease: Experience in a Single Tertiary Center.Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20.A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.

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P2860

Subtelomeric rearrangements detected in patients with idiopathic mental retardation.

http://www.wikidata.org/entity/Q38490510

description

2002 nî lūn-bûn

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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2002年论文

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2002年论文

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name

Subtelomeric rearrangements detected in patients with idiopathic mental retardation.

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type

label

Subtelomeric rearrangements detected in patients with idiopathic mental retardation.

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prefLabel

Subtelomeric rearrangements detected in patients with idiopathic mental retardation.

@en

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P1433

American Journal of Medical Genetics Part A

P1476

Subtelomeric rearrangements detected in patients with idiopathic mental retardation.

@en

P2093

Britt-Marie Anderlid

http://www.w3.org/2001/XMLSchema#string

Elisabeth Blennow

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Göran Annerén

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Jacqueline Schoumans

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Mihailo Vujic

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Mårten Kyllerman

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Sigrid Sahlén

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P2860

Multicolor Spectral Karyotyping of Human Chromosomes

Subtle chromosomal rearrangements in children with unexplained mental retardation

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

An optimized set of human telomere clones for studying telomere integrity and architecture.

Detection of chromosomal aberrations by a whole-genome microsatellite screen

Multiplex-FISH for pre- and postnatal diagnostic applications.

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.

Duplication 9q34-->qter identified by chromosome painting.

The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes

Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH.

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275-284

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10.1002/AJMG.10029

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4

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107

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Magnus Nordenskjöld

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2002-02-01T00:00:00Z

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11519542

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11840483

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