Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.
about
A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection.Network biology concepts in complex disease comorbiditiesThe Genetics of Aortopathies in Clinical Cardiology.An ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes.Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.Aetiology and management of hereditary aortopathy.Association Between Migraine and Cervical Artery Dissection: The Italian Project on Stroke in Young Adults.Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signalingTall stature: a difficult diagnosis?Development of spinal deformities in the tight-skin mouse.Novel Marfan Syndrome-Associated Mutation in the FBN1 Gene Caused by Parental Mosaicism and Leading to Abnormal Limb Patterning.Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.TGF-β1 affects cell-cell adhesion in the heart in an NCAM1-dependent mechanism.Tgfbr2 is required in osterix expressing cells for postnatal skeletal development.25 Years of Human Mutation.Response to: The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections.Aortic Aneurysms.Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome.TGF-β signaling promotes tumor vasculature by enhancing the pericyte-endothelium association.
P2860
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P2860
Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.
@en
type
label
Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.
@en
prefLabel
Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.
@en
P2860
P356
P1433
P1476
Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery
@en
P2093
Lut Van Laer
Maaike Alaerts
P2860
P304
P356
10.1002/HUMU.22977
P577
2016-03-14T00:00:00Z