Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.
about
The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expressionIdentification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting controlThe comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypesStructure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in humanCytogenetic abnormalities and fragile-X syndrome in Autism Spectrum DisorderPrader-Willi, Angelman, and 15q11-q13 Duplication SyndromesDendritic spine dysgenesis in autism related disordersThe inv dup (15) or idic (15) syndrome (Tetrasomy 15q)Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.Transmission disequilibrium testing of the chromosome 15q11-q13 region in autismFine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes.High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosageMasquerading repeats: paralogous pitfalls of the human genome.Animal models of psychiatric disorders that reflect human copy number variation.Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers.Rearrangements of chromosome 15 in epilepsy.Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.Monogenic and chromosomal causes of isolated speech and language impairment.The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.Disease susceptibility genes for autism.Applications of comparative genomic hybridisation in constitutional chromosome studies.Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding proteinOrganisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15qDirectly transmitted unbalanced chromosome abnormalities and euchromatic variantsThe neurobiology of mouse models syntenic to human chromosome 15q.Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism.Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness.Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular eraA Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism.The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.MLPA analysis in a cohort of patients with autism.CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome.
P2860
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P2860
Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.
description
1997 nî lūn-bûn
@nan
1997 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.
@ast
Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.
@en
type
label
Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.
@ast
Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.
@en
prefLabel
Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.
@ast
Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.
@en
P2093
P2860
P356
P1476
Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.
@en
P2093
C E Browne
J C Barber
J C Nicholson
J Sillibourne
N R Dennis
P2860
P304
P356
10.1086/301624
P407
P577
1997-12-01T00:00:00Z