Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes

scientific article

Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes is …
instance of (P31):
scholarly articleQ13442814

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P932PMC publication ID1682251
P698PubMed publication ID8317497

P50authorCatherine BoileauQ56517624
Marie-Claude BabronQ30501401
P2093author name stringG Delorme
G Jondeau
O Dubourg
L Sakai
M Coulon
C Bonaïti-Pellié
J Melki
J A Alexandre
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Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative StudyQ45169553
Size of the normal aortic root in normal subjects and in those with left ventricular outflow obstructionQ47174292
Echocardiographic measurements in normal subjects from infancy to old age.Q52753656
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin geneQ55671357
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Symptomatic valvular myxomatous transformation (the floppy valve syndrome). A possible forme fruste of the Marfan syndromeQ57972059
Partial sequence of a candidate gene for the Marfan syndromeQ59054296
Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuumQ59281284
Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndromeQ68522031
Location on chromosome 15 of the gene defect causing Marfan syndromeQ68923094
The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.Q70118986
Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrilsQ24299279
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An exclusion map of Marfan syndromeQ33597148
Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome familyQ33597154
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genesQ34592768
Diagnosis and classification of severity of mitral valve prolapse: methodologic, biologic, and prognostic considerationsQ34690361
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin geneQ35602882
Formes frustes of Marfan's syndrome presenting with severe aortic regurgitation. Clinicogenetic study of 18 familiesQ36799430
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptidesQ37084846
Reconsideration of echocardiographic standards for mitral valve prolapse: lack of association between leaflet displacement isolated to the apical four chamber view and independent echocardiographic evidence of abnormalityQ39635906
The Marfan Syndrome: Diagnosis and ManagementQ39788812
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectaortaQ101004
P304page(s)46-54
P577publication date1993-07-01
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleAutosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes
P478volume53

Reverse relations

cites work (P2860)
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