Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.
about
GATA4 loss-of-function mutations underlie familial tetralogy of fallotGenetic testing in congenital heart disease: A clinical approachEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseOf mice and men: molecular genetics of congenital heart diseaseGenetics of valvular heart diseaseBicuspid Aortic Valve: a Review with Recommendations for Genetic CounselingCardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.Advances in the treatment of aortic valve disease: is it time for companion diagnostics?Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditionsAssociation of two variants in SMAD7 with the risk of congenital heart disease in the Han Chinese population.Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques.Bidirectional Translation in Cardiovascular Calcification.Cilia and coordination of signaling networks during heart development.Review of molecular and mechanical interactions in the aortic valve and aorta: implications for the shared pathogenesis of aortic valve disease and aortopathy.Transforming Growth Factor β Superfamily Signaling in Development of Colorectal Cancer.Regulation of TGF-β Family Signaling by Inhibitory Smads.Aneurysm Development in Patients With Bicuspid Aortic Valve (BAV): Possible Connection to Repair Deficiency?Screening of SMAD7 in Malay patients with ventricular septal defect.Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis.A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.Variants in the NOTCH1 gene in patients with aortic coarctation.Thoracic Aortic Aneurysm Development in Patients with Bicuspid Aortic Valve: What Is the Role of Endothelial Cells?The Transcriptional Network Structure of a Myeloid Cell: A Computational Approach.Periostin in cardiovascular disease and development: a tale of two distinct roles.Clinical genetics of craniosynostosis.A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.Missing Links Between Genetically Inherited Molecules in Split Cord Malformation and Other Anomaly: A Bench to Bedside Approach.
P2860
Q24321906-FAA5B2BB-5920-4CB3-AC44-886C203D9F2DQ26765163-CA013126-C170-4A52-8B45-8B7E15116A13Q26991754-D95754E8-1E18-4C9F-A6FE-1A82016A6B65Q26995476-758CC9FD-F372-4EB9-822A-669F001AB676Q27014805-A3D0F987-301D-4FD2-92FE-DACF21397624Q28080091-94991A2D-6A63-4D77-8F37-507B557C9148Q31040681-13EA6125-7C26-49E4-BFD7-5135093C7A94Q33792221-715454D9-48A0-4148-AD11-88C7DEF9587BQ34251241-3CE5EBBD-A818-41B7-9D85-20E372EB9B53Q34533265-2DB2023D-F23B-4B1F-854A-AD58B5EF91B1Q34988392-CF784675-E766-44B4-AB54-C9D1DC5390E2Q36027711-E95812FB-0FFD-4855-8175-2498A907D347Q36628964-B6DE6DCF-1866-4264-9C16-01F45619C1FDQ38171918-473D65B1-DAAD-4856-A145-A0E359B27F34Q38269616-E53313ED-C85E-4405-9C2A-74CCEC8CDF60Q38988997-76F005B6-7B05-47BA-9875-880BBA42B898Q39029996-56E5FD2D-AB8B-49F4-9D2A-4CC7B024B5F4Q40074474-59FA9935-13A3-4AA0-8129-6B179D1726E5Q40920052-8101A0CE-4EE0-4DC1-AA2D-4241830F4269Q41537361-0086B34A-2C66-4D96-8013-BF5D537F993FQ41922582-79B91E44-B6ED-41CC-9495-CCBB434E8B0EQ46564299-A082A5E5-246B-45F4-A11B-45085A00A2E8Q46812710-0EF9DF72-F393-4A4C-844D-3C02B8C6FD36Q47156238-D62B4DC9-823F-41FA-A2E0-4AE9D782C601Q47377289-4EF65F5F-3883-4289-88D0-94C1A0BDB0FDQ47382499-14E3DBD3-2E8F-41E5-87A9-9942638FFEE9Q47796796-777B61AB-A245-4E5E-A69D-BDDD98B53949Q52625501-88A32215-7A9D-4E75-B84F-0BE27859CFCFQ55253411-1B8A1F72-6329-459F-9A1E-6F187A786EB0
P2860
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Nonsynonymous variants in the ...... l cardiovascular malformation.
@en
Nonsynonymous variants in the ...... l cardiovascular malformation.
@nl
type
label
Nonsynonymous variants in the ...... l cardiovascular malformation.
@en
Nonsynonymous variants in the ...... l cardiovascular malformation.
@nl
prefLabel
Nonsynonymous variants in the ...... l cardiovascular malformation.
@en
Nonsynonymous variants in the ...... l cardiovascular malformation.
@nl
P2093
P2860
P50
P921
P356
P1433
P1476
Nonsynonymous variants in the ...... l cardiovascular malformation.
@en
P2093
Bernard D Keavney
Christopher Wren
Darroch Hall
Elise Glen
John J O'Sullivan
Judith A Goodship
Peter Avery
Peter ten Dijke
Richard J Lewis
P2860
P304
P356
10.1002/HUMU.22030
P5008
P577
2012-02-14T00:00:00Z