相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections
Wen-Jing Wang et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2013)
Evaluating Japanese Patients With the Marfan Syndrome Using High-Throughput Microarray-Based Mutational Analysis of Fibrillin-1 Gene
Naomi Ogawa et al.
AMERICAN JOURNAL OF CARDIOLOGY (2011)
The clinical spectrum of complete FBN1 allele deletions
Yvonne Hilhorst-Hofstee et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Noncanonical TGFβ Signaling Contributes to Aortic Aneurysm Progression in Marfan Syndrome Mice
Tammy M. Holm et al.
SCIENCE (2011)
Cardiovascular manifestations in men and women carrying a FBN1 mutation
Delphine Detaint et al.
EUROPEAN HEART JOURNAL (2010)
The revised Ghent nosology for the Marfan syndrome
Bart L. Loeys et al.
JOURNAL OF MEDICAL GENETICS (2010)
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome
Chia-Cheng Hung et al.
ANNALS OF HUMAN GENETICS (2009)
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene
Chantal Stheneur et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome
Benjamin S. Brooke et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Search for correlations between FBN1 genotype and complete ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome
Svend Rand-Hendriksen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of marfan syndrome in a national health service laboratory
Rachel Howarth et al.
GENETIC TESTING (2007)
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or marfan-related phenotypes
Haruya Sakai et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome
K Rommel et al.
HUMAN MUTATION (2005)
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
BL Loeys et al.
NATURE GENETICS (2005)
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome
B Loeys et al.
HUMAN MUTATION (2004)
Allelic variation in normal human FBN1 expression in a family with Marfan syndrome:: a potential modifier of phenotype?
S Hutchinson et al.
HUMAN MOLECULAR GENETICS (2003)
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus
P Comeglio et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2002)
Premature termination mutations in FBN1:: Distinct effects on differential allelic expression and on protein and clinical phenotypes
I Schrijver et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice
DJ Halliday et al.
JOURNAL OF MEDICAL GENETICS (2002)
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene
G Matyas et al.
HUMAN MUTATION (2002)
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions
J Korkko et al.
JOURNAL OF MEDICAL GENETICS (2002)
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome
B Loeys et al.
ARCHIVES OF INTERNAL MEDICINE (2001)
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40
F Tiecke et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2001)
分享论文
