Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.
about
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new familiesLoss-of-function mutation in GATA4 causes anomalies of human testicular developmentChromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic herniaDetailed mapping of a congenital heart disease gene in chromosome 3p25Identification of candidate genes for congenital heart defects on proximal chromosome 8p.Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case reportInversion variants in the human genome: role in disease and genome architectureFrom microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications.An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Understanding the Limitations of Circulating Cell Free Fetal DNA: An Example of Two Unique Cases.Genomic profile of copy number variants on the short arm of human chromosome 8.Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.A potential relationship among beta-defensins haplotype, SOX7 duplication and cardiac defects.Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects.Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardationChromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter.GATA4 sequence variants in patients with congenital heart disease.Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region.Effect of copy number variants on outcomes for infants with single ventricle heart defects.De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay.MASL1: a neglected ROCO protein.Direct fluorescent labelling of clones by DOP PCRArray painting using microdissected chromosomes to map chromosomal breakpoints.Partial Trisomy 13 and Partial Monosomy 8 Mosaicism Secondary to an Unbalanced De Novo Translocation: Highlighting an Uncommon Chromosomal Abnormality.Inverted duplications: how many of them are mosaic?Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits.Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study.Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1
P2860
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P2860
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.
description
1999 nî lūn-bûn
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1999 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Delineation of the critical de ...... defects, on chromosome 8p23.1.
@ast
Delineation of the critical de ...... defects, on chromosome 8p23.1.
@en
Delineation of the critical de ...... defects, on chromosome 8p23.1.
@nl
type
label
Delineation of the critical de ...... defects, on chromosome 8p23.1.
@ast
Delineation of the critical de ...... defects, on chromosome 8p23.1.
@en
Delineation of the critical de ...... defects, on chromosome 8p23.1.
@nl
prefLabel
Delineation of the critical de ...... defects, on chromosome 8p23.1.
@ast
Delineation of the critical de ...... defects, on chromosome 8p23.1.
@en
Delineation of the critical de ...... defects, on chromosome 8p23.1.
@nl
P2093
P2860
P356
P1476
Delineation of the critical de ...... defects, on chromosome 8p23.1.
@en
P2093
Bröndum-Nielsen K
Devriendt K
Gewillig M
Hjalgrim H
Matthijs G
McGaughran J
P2860
P304
P356
10.1086/302330
P407
P577
1999-04-01T00:00:00Z