about
High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 moduleSHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencingCumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephalyLoss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humansHeterotaxy Polysplenia Syndrome In An Adult With Unique Vascular Anomalies: Case Report With Review Of Literature46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactylySpectrum of clinical diseases caused by disorders of primary ciliaA human laterality disorder caused by a homozygous deleterious mutation in MMP21Interrogating congenital heart defects with noninvasive fetal echocardiography in a mouse forward genetic screen.NPHP4 variants are associated with pleiotropic heart malformations.Incidentally detected asplenia in a healthy 64-year-old female live kidney donor.Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.Duplication and deletion of CFC1 associated with heterotaxy syndromeHeterotaxin: a TGF-β signaling inhibitor identified in a multi-phenotype profiling screen in Xenopus embryos.The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey.Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives.New Genetic Insights into Congenital Heart Disease.Impact of Mendelian inheritance in cardiovascular disease.Serotonin has early, cilia-independent roles in Xenopus left-right patterning.Zic3 is required in the extra-cardiac perinodal region of the lateral plate mesoderm for left-right patterning and heart development.Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxyReduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephalyRargb regulates organ laterality in a zebrafish model of right atrial isomerism.Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.The Dorsal Mesenchymal Protrusion and the Pathogenesis of Atrioventricular Septal Defects.Genetic and functional analyses of ZIC3 variants in congenital heart disease.Cardiac Embryology and Molecular Mechanisms of Congenital Heart Disease: A Primer for Anesthesiologists.Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.Genetics of congenital heart disease.Right atrial isomerism in children older than 3 years.Polysplenia syndrome with duodenal and pancreatic dysplasia in a Holstein calf: a case report.Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.Primary Ciliary Dyskinesia and Situs Ambiguus: A Rare Association.Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology.Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects.Novel copy-number variants in a population-based investigation of classic heterotaxy.Left Right Patterning, Evolution and Cardiac Development.Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3
P2860
Q24313134-63604248-489D-4005-9716-945ED9982C28Q24318764-C36212CD-8630-4A6D-AB87-E4F7DDF8C49AQ24614096-6AF5C839-F17E-4BB5-A441-3A3EA5DE4773Q24642861-F14EE8AA-FE67-426F-9AEF-EA94BC47B318Q24655626-34D0507D-D702-4585-ADF5-FC33BA52879DQ26775433-10E10869-8269-4271-AFB3-EEF655B581D1Q26829073-75659CD7-C874-4C85-9C1E-DAD6C91CBBFDQ27024881-4C75D8D9-6167-4577-AB31-354039FE2AD2Q28118429-818E5893-44A2-4158-84BE-96E4AFC6AA6DQ30421639-397EFEF0-DAC8-4F82-9B90-0195E70A03ECQ30571081-D32820E2-D39D-4CE9-8EE8-3C3608C68AA4Q33620289-D4D772DB-66FE-4B96-B040-CBA967A7E904Q34448317-677BB24F-811E-4117-B32E-E017D472BD87Q34449443-663D1B36-A0D2-4F64-B1CE-164160BA8367Q34632162-1F9C77A0-5EDA-4A60-B884-82FB5B5A74C8Q35206397-805C861E-9908-4506-97EA-8A24719282EEQ35667275-9ACF458F-9D02-47FB-B411-BAC7B64F55D0Q36106143-CF7651A2-ED87-464A-8E7B-35D1E97D1EFBQ36371337-C08E2924-F489-4B32-8888-65228F36B769Q36486059-F4A19536-D6B4-4949-A1ED-D43288F3590DQ36709672-CF021E8C-B918-45AC-8A06-D8DC3F576EE4Q36733249-6A9804E7-A56D-4FD5-BC84-7529FC950CE3Q36744686-9C6736AA-8F52-4B0D-8E19-168EDB83CB28Q36969132-FB77943B-75FE-41AD-A031-9983E4AAC1E0Q37341992-34B294EC-514D-40A4-B4B7-16FE223871CAQ37607714-A2B5A8BE-B65D-4030-A0D4-A94236123C3EQ37624304-2266932B-D59D-4B36-BB46-17C2E7EBD8C3Q38931945-D93411CB-EC03-4535-9F27-BB3ADF763856Q40577961-38C211F4-16C5-41E9-992D-A4E78EE61828Q41451951-F767FE80-6CA9-4213-A0B5-9F49409A645EQ41491119-60598346-ABC5-4420-B0D4-F93520CDD9A1Q42172312-C482B247-406A-45DB-8ADD-8ACDF7CFE592Q53944182-AA2B4D35-6452-4CCD-B696-6ED8DD4D3E2CQ54163960-21FDC3D0-DFDC-4A54-A84F-AEEE4BAEA099Q54943352-DE599972-0BCA-4D0E-A002-C2BAF580C3D0Q55058447-919E8F06-EA31-48F9-8F98-289E1354B514Q55116641-2E46AB9B-7364-4B13-AD21-39D2C7C53136Q55119415-0465B3F4-4E95-44FD-BFEA-7EC2657E4410Q55280817-2C8B35FB-5B3B-437D-93CB-72A2B21FFF24Q56974319-D238FB45-5DB3-4A55-9367-BCDBE78E17E8
P2860
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
2006年學術文章
@zh
2006年學術文章
@zh-hant
name
Genetics of human heterotaxias.
@ast
Genetics of human heterotaxias.
@en
type
label
Genetics of human heterotaxias.
@ast
Genetics of human heterotaxias.
@en
prefLabel
Genetics of human heterotaxias.
@ast
Genetics of human heterotaxias.
@en
P2860
P356
P1476
Genetics of human heterotaxias.
@en
P2093
Lirong Zhu
Stephanie M Ware
P2860
P2888
P356
10.1038/SJ.EJHG.5201506
P577
2006-01-01T00:00:00Z