Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome

Predictive Physical Manifestations for Progression of Scoliosis in Marfan Syndrome

(2021) Yuki Taniguchi et al.   SPINE

Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

(2021) Pauline Arnaud et al.   GENETICS IN MEDICINE

Clinical Impact of Copy Number Variation on the Genetic Diagnosis of Syndromic Aortopathies

(2021) Norifumi Takeda et al.   Circulation-Genomic and Precision Medicine

The Natural History of Adolescent Idiopathic Scoliosis

(2019) Stuart L. Weinstein   JOURNAL OF PEDIATRIC ORTHOPAEDICS

Syndromic Scoliosis

(2019) Andrew S. Chung et al.   SPINE

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

(2019) Mao Lin et al.   Molecular Genetics & Genomic Medicine

Assessing the Accuracy of Variant Detection in Cost-Effective Gene Panel Testing by Next-Generation Sequencing

(2018) Ryoji Fujiki et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Marfan syndrome: improved clinical history results in expanded natural history

(2018) Reed E. Pyeritz   GENETICS IN MEDICINE

Japan’s initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey

(2017) Takeya Adachi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Aortic events in a nationwide Marfan syndrome cohort

(2016) Kristian A. Groth et al.   Clinical Research in Cardiology

Genotype impacts survival in Marfan syndrome

(2016) Romy Franken et al.   EUROPEAN HEART JOURNAL

Surgical treatment of scoliosis in Marfan syndrome: outcomes and complications

(2016) Jun Qiao et al.   EUROPEAN SPINE JOURNAL

Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24–32

(2016) Jun Maeda et al.   HEART AND VESSELS

Lower Muscle Mass and Body Fat in Adolescent Idiopathic Scoliosis Are Associated With Abnormal Leptin Bioavailability

(2016) Elisa M. S. Tam et al.   SPINE

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

(2015) Mélodie Aubart et al.   HUMAN MOLECULAR GENETICS

Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels

(2015) Karina A. Zeyer et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Effect of predicted protein-truncating genetic variants on the human transcriptome

(2015) M. A. Rivas et al.   SCIENCE

Comparison of posterior correction results between Marfan syndrome scoliosis and adolescent idiopathic scoliosis—a retrospective case-series study

(2015) Weiqiang Liang et al.   Journal of Orthopaedic Surgery and Research

Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events

(2014) Linnea M. Baudhuin et al.   GENETICS IN MEDICINE

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

(2014) Jillian G. Buchan et al.   HUMAN MOLECULAR GENETICS

Spinal Deformity Correction in Marfan Syndrome Versus Adolescent Idiopathic Scoliosis

(2012) Joseph P. Gjolaj et al.   SPINE

Cardiovascular manifestations in men and women carrying a FBN1 mutation

(2010) Delphine Détaint et al.   EUROPEAN HEART JOURNAL

The revised Ghent nosology for the Marfan syndrome

(2010) B. L. Loeys et al.   JOURNAL OF MEDICAL GENETICS

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

(2008) L Faivre et al.   EUROPEAN JOURNAL OF HUMAN GENETICS