Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
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MicroRNAs in congenital heart diseaseMutations in LRPAP1 are associated with severe myopia in humansCritical roles of miRNA-mediated regulation of TGFβ signalling during mouse cardiogenesis.Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndromeTransforming growth factor-beta (TGF- β) signaling in paravertebral muscles in juvenile and adolescent idiopathic scoliosis.Association of the TGF-beta receptor genes with abdominal aortic aneurysm.A prospective, randomized, placebo-controlled, double-blind, multicenter study of the effects of irbesartan on aortic dilatation in Marfan syndrome (AIMS trial): study protocol.Diverging alternative splicing fingerprints in the transforming growth factor-β signaling pathway identified in thoracic aortic aneurysms.Periosteal osteosarcoma and Marfan's syndrome: A case report and literature reviewCardiac remodeling in the mouse model of Marfan syndrome develops into two distinctive phenotypesGenetics of peripheral artery diseaseTwo novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese familiesTransforming growth factor-beta signaling: emerging stem cell target in metastatic breast cancer?Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.Role of TGF-β pathway polymorphisms in sporadic thoracic aortic aneurysm: rs900 TGF-β2 is a marker of differential gender susceptibility.The pathogenesis of aortopathy in Marfan syndrome and related diseases.Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings.TGFβ signaling and cardiovascular diseases.Marfan syndrome: a review of the literature and case report.Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle.Immunolocalisation of fibrillin microfibrils in the calf metacarpal and vertebral growth plate.Design of a miniature tissue culture system to culture mouse heart valves.Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea.Editorial Commentary: Understanding Marfan syndrome, or "how not to invent the light bulb".The many faces of aggressive aortic pathology: Loeys-Dietz syndrome.Informative STR Markers for Marfan Syndrome in Birjand, Iran.Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome.Novel FBN1 mutations are responsible for cardiovascular manifestations of Marfan syndrome.Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2.Comparison of the background, needs, and expectations for genetic counseling of adults with experience with Down syndrome, Marfan syndrome, and neurofibromatosis.Expanding the skeletal phenotype of Loeys-Dietz syndrome.Villous papillary thyroid carcinoma: a variant associated with marfan syndrome.Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder
P2860
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P2860
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
@ast
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
@en
type
label
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
@ast
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
@en
prefLabel
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
@ast
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
@en
P2860
P1476
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
@en
P2093
Naomichi Matsumoto
Takeshi Mizuguchi
P2860
P2888
P356
10.1007/S10038-006-0078-1
P577
2006-10-24T00:00:00Z