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。Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome
Pauline Arnaud et al.
GENETICS IN MEDICINE (2021)
A novel intron mutation in FBN-1 gene identified in a pregnant woman with Marfan syndrome
Yuduo Wu et al.
HEREDITAS (2021)
Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations
Songchang Chen et al.
FRONTIERS IN MOLECULAR BIOSCIENCES (2021)
Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia
Ying Xiong et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2021)
Marfan syndrome
Dianna M. Milewicz et al.
NATURE REVIEWS DISEASE PRIMERS (2021)
Prenatal diagnosis of Marfan syndrome by fetal echocardiography: A case report and review of cardiovascular manifestations
Xin Wang et al.
ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES (2020)
Genetics of Thoracic and Abdominal Aortic Diseases Aneurysms, Dissections, and Ruptures
Amelie Pinard et al.
CIRCULATION RESEARCH (2019)
Update on Clinical Trials of Losartan With and Without β-Blockers to Block Aneurysm Growth in Patients With Marfan Syndrome A Review
Marion A. Hofmann Bowman et al.
JAMA CARDIOLOGY (2019)
Marfan syndrome: improved clinical history results in expanded natural history
Reed E. Pyeritz
GENETICS IN MEDICINE (2019)
A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
Mario Torrado et al.
BIOMED RESEARCH INTERNATIONAL (2018)
Standards and guidelines for the interpretation of sequence variants
ACTA OPHTHALMOLOGICA (2018)
Survival, causes of death, and cardiovascular events in patients with Marfan syndrome
Thy Thy Vanem et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2018)
Identification of gross deletions in FBN1 gene by MLPA
Hang Yang et al.
HUMAN GENOMICS (2018)
Recent progress in understanding the natural and clinical histories of the Marfan syndrome
Reed E. Pyeritz
TRENDS IN CARDIOVASCULAR MEDICINE (2016)
Prevalence, incidence, and age at diagnosis in Marfan Syndrome
Kristian A. Groth et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases
Raimund Erbel et al.
EUROPEAN HEART JOURNAL (2014)
An FBN1 Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?
Elisabeth Gillis et al.
HUMAN MUTATION (2014)
Epidemiological Profile of Marfan Syndrome in a General Population: A National Database Study
Hsin-Hui Chiu et al.
MAYO CLINIC PROCEEDINGS (2014)
The clinical spectrum of complete FBN1 allele deletions
Yvonne Hilhorst-Hofstee et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease - A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine
Loren F. Hiratzka et al.
CIRCULATION (2010)
The revised Ghent nosology for the Marfan syndrome
Bart L. Loeys et al.
JOURNAL OF MEDICAL GENETICS (2010)
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
L. Faivre et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease
Dong-chuan Guo et al.
JOURNAL OF HUMAN GENETICS (2008)
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations:: An international study
L. Faivre et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
The molecular genetics of Marfan syndrome and related disorders
P. N. Robinson et al.
JOURNAL OF MEDICAL GENETICS (2006)
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)
分享论文
