Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. - Wikidata - wikimedia - TriplyDB

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

http://www.wikidata.org/entity/Q35250235

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The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13 Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes Dendritic spine dysgenesis in autism related disorders The 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 autism Fine 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 dosage Masquerading 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 protein Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q Directly transmitted unbalanced chromosome abnormalities and euchromatic variants The 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 era A 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.

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Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

http://www.wikidata.org/entity/Q35250235

description

1997 nî lūn-bûn

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1997 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1997 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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1997年の論文

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1997年論文

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1997年論文

@zh-hant

1997年論文

@zh-hk

1997年論文

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1997年論文

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1997年论文

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name

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

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Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

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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.

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Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

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American Journal of Human Genetics

P1476

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

@en

P2093

C E Browne

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

E Maher

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

F L Long

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

J C Barber

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

J C Nicholson

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

J Sillibourne

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

N R Dennis

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P2860

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

A simple salting out procedure for extracting DNA from human nucleated cells

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

Absence of predictable phenotypic expression in proximal 15q duplications

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes.

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

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1342-1352

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10.1086/301624

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P433

6

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61

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13830059

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9399882

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1716086

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