Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

scientific article published on 01 May 2009

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/AJMG.A.32809
P698PubMed publication ID19353630

P50authorPeter RobinsonQ41935087
Christophe BeroudQ56452005
Catherine BoileauQ56517624
Gwenaëlle Collod-BéroudQ57150746
Eloisa ArbustiniQ37829170
Bart L LoeysQ38642270
Bert CallewaertQ41702074
P2093author name stringA De Paepe
U Francke
P Coucke
L Faivre
P Comeglio
K Mayer
M Claustres
C Binquet
E Gautier
O Bouchot
G Jondeau
J E Wolf
A Child
C Bonithon-Kopp
M Grasso
M Arslan-Kirchner
C Stheneur
L Adès
J De Backer
A Kiotsekoglou
P2860cites workA comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndrome.Q34277928
Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disordersQ40934983
P433issue5
P407language of work or nameEnglishQ1860
P921main subjectMarfan syndromeQ208562
diagnosisQ16644043
P304page(s)854-860
P577publication date2009-05-01
P1433published inAmerican Journal of Medical GeneticsQ4744254
P1476titlePathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion
P478volume149A

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cites work (P2860)
Q57785375A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy
Q57577758A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population
Q45084264Cardiovascular manifestations in men and women carrying a FBN1 mutation
Q41734139Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]
Q37906497DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene
Q30393311Economic and care considerations of Marfan syndrome
Q49652879FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.
Q49627496Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.
Q39100045Genetic and Epigenetic Regulation of Aortic Aneurysms
Q37595086Molecular pathogenesis and management strategies of ectopia lentis
Q42666332Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1).
Q28077286Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review
Q37692270Spontaneous arterial dissection: phenotype and molecular pathogenesis
Q45301359Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
Q33662519TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
Q49060891The new Ghent criteria for Marfan syndrome: what do they change?
Q38196444The revised ghent nosology; reclassifying isolated ectopia lentis.
Q36695702The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome

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