A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.
about
Marfan's syndromeThe molecular genetics of Marfan syndrome and related disordersDetection of abnormal aortic elastic properties in asymptomatic patients with Marfan syndrome by combined transoesophageal echocardiography and acoustic quantification.A clinical severity grading scale for Marfan syndrome.A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation.Current insights in diagnosis and management of the cardiovascular complications of Marfan's syndrome.Marfan syndrome in the third Millennium.Paucity of skeletal manifestations in Hispanic families with FBN1 mutationsEvolving phenotype of Marfan's syndrome.Muscle fibrillin deficiency in Marfan's syndrome myopathy.A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic ampliconsThe impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunctionAortic root complications in Marfan's syndrome: identification of a lower risk group.The pathogenesis of spontaneous arterial dissection.The phenotype/genotype relation and the current status of genetic screening in hypertrophic cardiomyopathy, Marfan syndrome, and the long QT syndrome.Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia.Reply to "The question of heterogeneity in Marfan syndrome"An association between arterial pulse pressure and variation in the fibrillin-1 gene.Informative STR Markers for Marfan Syndrome in Birjand, Iran.Medical genetics: advances in brief: A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.Familial spontaneous pneumothorax and FBN1 mutations.TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome.The new Ghent criteria for Marfan syndrome: what do they change?Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entityInteraction between Fibrillin Genotype and Blood Pressure and the Development of Aneurysmal DiseaseGENETIC FIBRILLINOPATHIES : NEW INSIGHTS IN MOLECULAR DIAGNOSIS AND CLINICAL MANAGEMENT
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P2860
A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年学术文章
@wuu
1994年学术文章
@zh
1994年学术文章
@zh-cn
1994年学术文章
@zh-hans
1994年学术文章
@zh-my
1994年学术文章
@zh-sg
1994年學術文章
@yue
1994年學術文章
@zh-hant
name
A molecular approach to the st ...... milies with Marfan's syndrome.
@en
A molecular approach to the st ...... milies with Marfan's syndrome.
@nl
type
label
A molecular approach to the st ...... milies with Marfan's syndrome.
@en
A molecular approach to the st ...... milies with Marfan's syndrome.
@nl
prefLabel
A molecular approach to the st ...... milies with Marfan's syndrome.
@en
A molecular approach to the st ...... milies with Marfan's syndrome.
@nl
P2093
P1476
A molecular approach to the st ...... milies with Marfan's syndrome.
@en
P2093
R E Pyeritz
P304
P356
10.1056/NEJM199407213310302
P407
P577
1994-07-01T00:00:00Z