Clinical and molecular analysis of five inv dup(15) patients.
about
Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structuresThe comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in humanAutism or atypical autism in maternally but not paternally derived proximal 15q duplicationCytogenetic abnormalities and fragile-X syndrome in Autism Spectrum DisorderSmall supernumerary marker chromosomes and their correlation with specific syndromesThe 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)sMolecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.Inv dup(15) supernumerary marker chromosomes.Intrachromosomal triplication of 15q11-q13.Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.Molecular screening for proximal 15q abnormalities in a mentally retarded population.Large inv dup(15) chromosome in two generationsMolecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers.Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplicationsMolecular characterization of the marker chromosome associated with cat eye syndromeMolecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.Presence of large deletions in kindreds with autism.A nine-month-old boy with isodicentric chromosome 15: a case report.The dilemma of diagnostic testing for Prader-Willi syndromeMolecular 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.Current Enlightenment About Etiology and Pharmacological Treatment of Autism Spectrum Disorder.
P2860
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P2860
Clinical and molecular analysis of five inv dup(15) patients.
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
1993年论文
@zh
1993年论文
@zh-cn
name
Clinical and molecular analysis of five inv dup(15) patients.
@ast
Clinical and molecular analysis of five inv dup(15) patients.
@en
type
label
Clinical and molecular analysis of five inv dup(15) patients.
@ast
Clinical and molecular analysis of five inv dup(15) patients.
@en
prefLabel
Clinical and molecular analysis of five inv dup(15) patients.
@ast
Clinical and molecular analysis of five inv dup(15) patients.
@en
P2093
P356
P1476
Clinical and molecular analysis of five inv dup(15) patients
@en
P2093
A Schinzel
W P Robinson
W Rosenkranz
P356
10.1159/000472386
P577
1993-01-01T00:00:00Z