Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.
about
A pre-metazoan origin of the CRK gene family and co-opted signaling networkThe importance of copy number variation in congenital heart diseaseGenetic Drivers of Kidney Defects in the DiGeorge Syndrome.Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.MEF2C regulates outflow tract alignment and transcriptional control of Tdgf1.A catalog of hemizygous variation in 127 22q11 deletion patients.22q11.2 deletion syndromeGenomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.Murine model indicates 22q11.2 signaling adaptor CRKL is a dosage-sensitive regulator of genitourinary development.The benefits and limitations of cell-free DNA screening for 22q11.2 deletion syndrome.The Complex Genetic Basis of Congenital Heart Defects.The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology.MEF2C loss-of-function mutation contributes to congenital heart defects.TBX1 loss-of-function mutation contributes to congenital conotruncal defects.Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study.Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.Congenital heart disease and genetic syndromes: new insights into molecular mechanisms.SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.Molecular genetics of 22q11.2 deletion syndrome
P2860
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P2860
Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh-hant
name
Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.
@en
Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.
@nl
type
label
Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.
@en
Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.
@nl
prefLabel
Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.
@en
Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.
@nl
P2093
P2860
P50
P1476
Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.
@en
P2093
Beverly S Emanuel
Birgit Funke
Elizabeth Goldmuntz
Silvia E Racedo
P2860
P304
P356
10.1016/J.AJHG.2014.12.025
P407
P577
2015-02-01T00:00:00Z