Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia
about
Cytogenomic Aberrations in Congenital Cardiovascular MalformationsOverview of high throughput sequencing technologies to elucidate molecular pathways in cardiovascular diseasesOf mice and men: molecular genetics of congenital heart diseaseIdentification of candidate genes for congenital heart defects on proximal chromosome 8p.Sox7 is regulated by ETV2 during cardiovascular developmentVariants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic herniaUtero-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.Human gene copy number spectra analysis in congenital heart malformationsMouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia.Efficient genome editing of genes involved in neural crest development using the CRISPR/Cas9 system in Xenopus embryos.De novo copy number variants are associated with congenital diaphragmatic hernia.Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter.Effect of copy number variants on outcomes for infants with single ventricle heart defects.Genetic architecture of reciprocal CNVs.Family-based studies to identify genetic variants that cause congenital heart defects.Aortic dilation, genetic testing, and associated diagnoses.Circulating mRNA in Maternal Plasma at the Second Trimester of Pregnancy: A Possible Screening Tool for Cardiac Conotruncal and Left Ventricular Outflow Tract Abnormalities.Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development.The general anesthesia experience of deletion 8p syndrome patient -A case report-.Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype.Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias.Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Bochdalek hernia presenting with initial local fat infiltration of the thoracic cavity in a leukemic child8p23.1 duplication syndrome: narrowing of critical interval to 1.80 MbpIdentification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.Decreased expression of GATA4 in the diaphragm of nitrofen-induced congenital diaphragmatic hernia.Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle.Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.Identification and molecular characterization of two novel chromosomal deletions associated with autism.Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia.The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia.Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.Chromosome 5q33 deletions associated with congenital heart defects.Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2.Prenatal diagnosis of inverted duplication deletion 8p syndrome mimicking trisomy 18.
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P2860
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia
description
2009 nî lūn-bûn
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2009 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2009年の論文
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2009年論文
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2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Chromosome 8p23.1 deletions as ...... fects and diaphragmatic hernia
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Chromosome 8p23.1 deletions as ...... fects and diaphragmatic hernia
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Chromosome 8p23.1 deletions as ...... fects and diaphragmatic hernia
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type
label
Chromosome 8p23.1 deletions as ...... fects and diaphragmatic hernia
@ast
Chromosome 8p23.1 deletions as ...... fects and diaphragmatic hernia
@en
Chromosome 8p23.1 deletions as ...... fects and diaphragmatic hernia
@nl
prefLabel
Chromosome 8p23.1 deletions as ...... fects and diaphragmatic hernia
@ast
Chromosome 8p23.1 deletions as ...... fects and diaphragmatic hernia
@en
Chromosome 8p23.1 deletions as ...... fects and diaphragmatic hernia
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P2860
P3181
P356
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Chromosome 8p23.1 deletions as ...... fects and diaphragmatic hernia
@en
P2093
Aditi Dagli
Carlos Bacino
Daryl A Scott
Fernando Scaglia
Margaret J Wat
Oleg A Shchelochkov
Roberto T Zori
Sau Wai Cheung
Sung-Hae Lee Kang
P2860
P304
P3181
P356
10.1002/AJMG.A.32896
P407
P577
2009-08-01T00:00:00Z