Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.

scientific article published on 20 January 2009

Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1111/J.1399-0004.2008.01126.X
P698PubMed publication ID19159394

P2093author name stringJ Schmidtke
K K Singh
H Becker
M Arslan-Kirchner
K Rommel
A Abuzainin
B Söylen
P433issue3
P921main subjectMarfan syndromeQ208562
Loeys-Dietz syndromeQ3508669
P304page(s)265-270
P577publication date2009-01-20
P1433published inClinical GeneticsQ5133760
P1476titlePrevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.
P478volume75

Reverse relations

cites work (P2860)
Q41373533A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias
Q44015838Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome
Q54660023Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.
Q40615484Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants.
Q43619355Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
Q37904773Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings
Q35156029Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation
Q38337029Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Q36866985Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.
Q37589583Noninvasive diagnosis and management of spontaneous intracranial hypotension in patients with marfan syndrome: Case Report and Review of the Literature
Q51814075Performance of a new quantitative method for assessing dural ectasia in patients with FBN1 mutations and clinical features of Marfan syndrome.
Q64969914Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Q87193137Spinal imaging features in Japanese patients with Marfan syndrome: a case-control study
Q34808986Standardization and validation of a novel and simple method to assess lumbar dural sac size.

Search more.