The inv dup (15) or idic (15) syndrome (Tetrasomy 15q) - Wikidata - wikimedia - TriplyDB

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

http://www.wikidata.org/entity/Q28301354

about

Small supernumerary marker chromosomes and their correlation with specific syndromes Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong Genetics in autism diagnosis: adding molecular subtypes to neurobehavioral diagnoses.Diagnosis and management of autism spectrum disorder in the era of genomics: rare disorders can pave the way for targeted treatments Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype.Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples Pleiotropic Mechanisms Indicated for Sex Differences in Autism Autism Spectrum Disorder and Epilepsy: Two Sides of the Same Coin?A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability A case of isodicentric chromosome 15 presented with epilepsy and developmental delay Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.Genetic forms of epilepsies and other paroxysmal disorders Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns.The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.Williams Syndrome and 15q Duplication: Coincidence versus Association.Autism spectrum disorder in the genetics clinic: a review.A nine-month-old boy with isodicentric chromosome 15: a case report.Congenital chylothorax treated with oral sildenafil: a case report and review of the literature.The genetics of the epilepsies.Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots.Epilepsy in Prader-Willi syndrome: experience of a national referral centre.Utility of chromosomal microarray in five cases with cytogenetic abnormalities detected by traditional karyotype.Infantile spasms are associated with abnormal copy number variations.Glial overexpression of Dube3a causes seizures and synaptic impairments in Drosophila concomitant with down regulation of the Na+/K+ pump ATPα.Neuroanatomical Phenotypes Are Consistent With Autism-Like Behavioral Phenotypes in the 15q11-13 Duplication Mouse Model.Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons.Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement.Maternally derived 15q11.2-q13.1 duplication in a child with Lennox-Gastaut-type epilepsy and dysmorphic features: Clinical-genetic characterization of the family and review of the literature.Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome.Partial tetrasomy 14 associated with multiple malformations.

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P2860

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

http://www.wikidata.org/entity/Q28301354

description

2008 nî lūn-bûn

@nan

2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

2008年の論文

@ja

2008年論文

@yue

2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

@zh-mo

2008年論文

@zh-tw

2008年论文

@wuu

name

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

@ast

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

@en

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

@nl

type

label

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

@ast

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

@en

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

@nl

prefLabel

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

@ast

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

@en

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

@nl

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P2860

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P3181

P356

P1433

Orphanet Journal of Rare Diseases

P1476

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

@en

P2093

Agatino Battaglia

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

P275

Creative Commons Attribution 2.0 Generic

P2860

Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15

Cloning and functional characterization of a cation-Cl- cotransporter-interacting protein

Chromosome imbalances associated with epilepsy

Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients

Autistic symptoms among children and young adults with isodicentric chromosome 15

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

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.

An analysis of the parental age effect for inv dup (15).

P2888

P304

30

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scholarly article

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1804115

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10.1186/1750-1172-3-30

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P433

1

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3

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2008-11-19T00:00:00Z

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23483306

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P6179

1051896513

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P698

19019226

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P921

genetic variation

chromosomal disease

P932

2613132

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