Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.
about
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationCharacterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDHChromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic herniaCytogenomic Aberrations in Congenital Cardiovascular MalformationsGata4 is necessary for normal pulmonary lobar developmentPsychomotor retardation with a 1q42.11–q42.12 deletionSequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic herniaA male with unilateral microphthalmia reveals a role for TMX3 in eye developmentGenetic aspects of human congenital diaphragmatic hernia.Abnormal Paraventricular Nucleus of Hypothalamus and Growth Retardation Associated with Loss of Nuclear Receptor Gene COUP-TFIIOverview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1Genetic causes of congenital diaphragmatic herniaManitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.Genetic factors in congenital diaphragmatic hernia.VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalitiesLinking animal models to human congenital diaphragmatic hernia.The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.Rare variants in NR2F2 cause congenital heart defects in humans.Copy-number changes in prenatal diagnosis.Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Comprehensive pathway-based analysis identifies associations of BCL2, GNAO1 and CHD2 with non-obstructive azoospermia risk.Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature.Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia.A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome.Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.
P2860
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P2860
Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
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name
Array comparative genomic hybr ...... date genes at 15q26.1-15q26.2.
@ast
Array comparative genomic hybr ...... date genes at 15q26.1-15q26.2.
@en
type
label
Array comparative genomic hybr ...... date genes at 15q26.1-15q26.2.
@ast
Array comparative genomic hybr ...... date genes at 15q26.1-15q26.2.
@en
prefLabel
Array comparative genomic hybr ...... date genes at 15q26.1-15q26.2.
@ast
Array comparative genomic hybr ...... date genes at 15q26.1-15q26.2.
@en
P2093
P2860
P356
P1476
Array comparative genomic hybr ...... date genes at 15q26.1-15q26.2.
@en
P2093
Ali Moshrefi
Anne M Slavotinek
Bristow James
Elizabeth Leeth
G Bradley Schaeffer
González Esteban Burchard
Len A Pennacchio
Louis Ptacek
Randy Davis
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201652
P50
P577
2006-05-31T00:00:00Z