A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes.

A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes.

Item
http://www.wikidata.org/entity/Q52188787
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)sThree probands with autistic disorder and isodicentric chromosome 15.Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15.Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature.A case of isodicentric chromosome 15 presented with epilepsy and developmental delayDifferences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexityThree supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.Mild generalized epilepsy and developmental disorder associated with large inv dup(15).Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder.Should the chromosome region 15q11q13 be tested systematically by FISH in the case of an autistic-like syndrome?The syndrome of inv dup (15): clinical, electroencephalographic, and imaging findings.A survey of seizures and current treatments in 15q duplication syndrome.Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome.Avoiding a second amniocentesis to corroborate prenatal diagnosis by using refrigerated samples.
P2860

A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes.

Item
http://www.wikidata.org/entity/Q52188787
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
A clinical, cytogenetic and mo ...... v dup (15) marker chromosomes.
@en
A clinical, cytogenetic and mo ...... v dup (15) marker chromosomes.
@nl
type
label
A clinical, cytogenetic and mo ...... v dup (15) marker chromosomes.
@en
A clinical, cytogenetic and mo ...... v dup (15) marker chromosomes.
@nl
prefLabel
A clinical, cytogenetic and mo ...... v dup (15) marker chromosomes.
@en
A clinical, cytogenetic and mo ...... v dup (15) marker chromosomes.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
A clinical, cytogenetic and mo ...... v dup (15) marker chromosomes.
@en
P2093
P304
P31
P356
10.1034/J.1399-0004.1998.531530107.X
P433
P478
P577
P698