scholarly article | Q13442814 |
P356 | DOI | 10.1002/AJMG.A.32809 |
P698 | PubMed publication ID | 19353630 |
P50 | author | Peter Robinson | Q41935087 |
Christophe Beroud | Q56452005 | ||
Catherine Boileau | Q56517624 | ||
Gwenaëlle Collod-Béroud | Q57150746 | ||
Eloisa Arbustini | Q37829170 | ||
Bart L Loeys | Q38642270 | ||
Bert Callewaert | Q41702074 | ||
P2093 | author name string | A 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 | |||
P2860 | cites work | A 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 disorders | Q40934983 | ||
P433 | issue | 5 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Marfan syndrome | Q208562 |
diagnosis | Q16644043 | ||
P304 | page(s) | 854-860 | |
P577 | publication date | 2009-05-01 | |
P1433 | published in | American Journal of Medical Genetics | Q4744254 |
P1476 | title | 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 | |
P478 | volume | 149A |
Q57785375 | A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy |
Q57577758 | A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population |
Q45084264 | Cardiovascular manifestations in men and women carrying a FBN1 mutation |
Q41734139 | Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1] |
Q37906497 | DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene |
Q30393311 | Economic and care considerations of Marfan syndrome |
Q49652879 | FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. |
Q49627496 | Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders. |
Q39100045 | Genetic and Epigenetic Regulation of Aortic Aneurysms |
Q37595086 | Molecular pathogenesis and management strategies of ectopia lentis |
Q42666332 | Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1). |
Q28077286 | Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review |
Q37692270 | Spontaneous arterial dissection: phenotype and molecular pathogenesis |
Q45301359 | Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. |
Q33662519 | TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome |
Q49060891 | The new Ghent criteria for Marfan syndrome: what do they change? |
Q38196444 | The revised ghent nosology; reclassifying isolated ectopia lentis. |
Q36695702 | The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome |
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