Published in Eur J Hum Genet on March 18, 2009
Genetic testing in aortic aneurysm disease: PRO. Cardiol Clin (2010) 2.12
New Genetic Insights into Congenital Heart Disease. J Clin Exp Cardiolog (2012) 0.89
Structure of the fibrillin-1 N-terminal domains suggests that heparan sulfate regulates the early stages of microfibril assembly. Structure (2013) 0.82
Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]. Eur J Hum Genet (2010) 0.80
Impact of Mendelian inheritance in cardiovascular disease. Ann N Y Acad Sci (2010) 0.80
Shprintzen-Goldberg syndrome: a rare disorder. Pan Afr Med J (2016) 0.79
Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis. Mol Vis (2014) 0.79
Marfan syndrome: An eyesight of syndrome. Meta Gene (2014) 0.79
Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis. Mol Vis (2012) 0.79
C-terminal propeptide is required for fibrillin-1 secretion and blocks premature assembly through linkage to domains cbEGF41-43. Proc Natl Acad Sci U S A (2014) 0.78
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. Hum Mol Genet (2015) 0.78
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations. J Transl Med (2016) 0.75
Identification of a fibrillin-1 gene mutation in a monozygotic twin presenting with bilateral juvenile-onset ectopia lentis. Korean J Ophthalmol (2015) 0.75
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet (2005) 9.62
Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet (1996) 7.84
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet (1998) 7.68
Marfan's syndrome. Lancet (2005) 4.99
Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet (1995) 3.42
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Genet Test (1999) 3.42
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. Am J Hum Genet (2007) 2.91
Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders. Cell (1996) 2.40
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med (2001) 2.34
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat (2003) 2.10
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet (1994) 2.08
Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end. Genomics (1993) 2.05
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet (1995) 2.01
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A (2003) 1.79
Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Am J Med Genet (1996) 1.65
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat (2004) 1.57
UMD (Universal Mutation Database): 2005 update. Hum Mutat (2005) 1.52
Marfan syndrome-diagnosis and management. Curr Probl Cardiol (2008) 1.41
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. J Med Genet (2008) 1.41
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. Hum Mutat (2007) 1.31
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. Hum Mutat (2005) 1.14
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. Hum Mutat (2004) 1.14
Molecular genetics of Marfan syndrome. Curr Opin Cardiol (2005) 1.13
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Hum Mutat (2002) 1.13
X-linked mental retardation with marfanoid habitus. Am J Med Genet (1987) 1.12
Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome. Hum Mol Genet (1995) 1.11
Software and database for the analysis of mutations in the human FBN1 gene. Nucleic Acids Res (1996) 1.08
Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome. Hum Mutat (2001) 1.03
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. J Med Genet (2002) 1.00
Shprintzen-Goldberg syndrome: a clinical analysis. Am J Med Genet (1998) 0.95
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations. Hum Mutat (1997) 0.94
Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. J Med Genet (2002) 0.94
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum Mol Genet (1993) 0.93
Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome. J Med Genet (1996) 0.91
Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. Am J Hum Genet (1999) 0.89
New Marfanoid syndrome with craniosynostosis. Am J Med Genet (1987) 0.89
Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia. Pediatr Pulmonol (2005) 0.84
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet (2003) 11.67
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res (2009) 10.08
The revised Ghent nosology for the Marfan syndrome. J Med Genet (2010) 6.87
Serelaxin, recombinant human relaxin-2, for treatment of acute heart failure (RELAX-AHF): a randomised, placebo-controlled trial. Lancet (2012) 6.42
Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet (2004) 6.15
Current epidemiology of septic shock: the CUB-Réa Network. Am J Respir Crit Care Med (2003) 4.71
Severe iron deficiency anemia in transgenic mice expressing liver hepcidin. Proc Natl Acad Sci U S A (2002) 4.64
NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol. J Biol Chem (2004) 4.37
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J (2013) 3.58
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature (2011) 3.53
Increased mortality among patients taking digoxin--analysis from the AFFIRM study. Eur Heart J (2012) 3.52
Executive summary of the guidelines on the diagnosis and treatment of acute heart failure: the Task Force on Acute Heart Failure of the European Society of Cardiology. Eur Heart J (2005) 3.50
Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med (2002) 3.24
Plasma brain natriuretic peptide-guided therapy to improve outcome in heart failure: the STARS-BNP Multicenter Study. J Am Coll Cardiol (2007) 3.09
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat (2009) 2.93
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry (2009) 2.82
Porphyrias. Lancet (2010) 2.76
Influence of ICU case-volume on the management and hospital outcomes of acute exacerbations of chronic obstructive pulmonary disease*. Crit Care Med (2013) 2.75
NHERF1 mutations and responsiveness of renal parathyroid hormone. N Engl J Med (2008) 2.70
Assessing and grading congestion in acute heart failure: a scientific statement from the acute heart failure committee of the heart failure association of the European Society of Cardiology and endorsed by the European Society of Intensive Care Medicine. Eur J Heart Fail (2010) 2.64
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Pegylated interferon-alfa-2a induces complete hematologic and molecular responses with low toxicity in polycythemia vera. Blood (2008) 2.55
Mortality among patients admitted to intensive care units during weekday day shifts compared with "off" hours. Crit Care Med (2007) 2.53
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet (2012) 2.50
Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies. Int J Epidemiol (2010) 2.44
Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9. Arterioscler Thromb Vasc Biol (2004) 2.37
A patient-based national survey on postoperative pain management in France reveals significant achievements and persistent challenges. Pain (2008) 2.31
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22
Intrathoracic impedance monitoring, audible patient alerts, and outcome in patients with heart failure. Circulation (2011) 2.17
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat (2003) 2.10
Locus-specific mutation databases: pitfalls and good practice based on the p53 experience. Nat Rev Cancer (2006) 2.05
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet (2011) 2.04
Isolated left ventricular non-compaction in adults: clinical and echocardiographic features in 105 patients. Results from a French registry. Eur J Heart Fail (2010) 2.04
Relation of heart rate at rest and long-term (>20 years) death rate in initially healthy middle-aged men. Am J Cardiol (2008) 2.03
Benefits of obstructive sleep apnoea treatment in coronary artery disease: a long-term follow-up study. Eur Heart J (2004) 2.01
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. Eur J Hum Genet (2008) 2.01
Use of transthoracic echocardiography combined with venous ultrasonography in patients with pulmonary embolism. Int J Cardiol (2004) 1.97
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet (2004) 1.94
Effects of tezosentan on symptoms and clinical outcomes in patients with acute heart failure: the VERITAS randomized controlled trials. JAMA (2007) 1.91
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res (2010) 1.90
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
Effect of serelaxin on cardiac, renal, and hepatic biomarkers in the Relaxin in Acute Heart Failure (RELAX-AHF) development program: correlation with outcomes. J Am Coll Cardiol (2013) 1.89
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy. Hum Mutat (2007) 1.89
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest (2010) 1.85
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet (2003) 1.81
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet (2009) 1.80
Immunogenicity of the 10-valent pneumococcal non-typeable Haemophilus influenzae protein D conjugate vaccine (PHiD-CV) compared to the licensed 7vCRM vaccine. Pediatr Infect Dis J (2009) 1.80
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
Systemic candidiasis in intensive care units: a multicenter, matched-cohort study. J Crit Care (2002) 1.78
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. PLoS Genet (2011) 1.77
Low stretch ventilation strategy in acute respiratory distress syndrome: eight years of clinical experience in a single center. Crit Care Med (2003) 1.76
Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia. Mol Biol Evol (2004) 1.74
Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway. J Pathol (2009) 1.74
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Hum Mutat (2009) 1.71
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet (2013) 1.70
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. Blood (2011) 1.68
Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J (2010) 1.68
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics (2009) 1.67
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Hum Mutat (2009) 1.67
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet (2008) 1.64
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. J Clin Invest (2008) 1.61
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. J Invest Dermatol (2010) 1.61
Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq. Am J Med Genet A (2004) 1.59
Incidence and impact of organ dysfunctions associated with sepsis. Chest (2005) 1.58
Impact of case volume on survival of septic shock in patients with malignancies. Crit Care Med (2012) 1.58
C57BL/6J and A/J mice fed a high-fat diet delineate components of metabolic syndrome. Obesity (Silver Spring) (2007) 1.58
Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene. Gastroenterology (2006) 1.56
Is EPO therapy able to correct iron deficiency anaemia caused by matriptase-2 deficiency? Br J Haematol (2011) 1.55
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia. Hum Mutat (2005) 1.54
Ferritin and transferrin are associated with metabolic syndrome abnormalities and their change over time in a general population: Data from an Epidemiological Study on the Insulin Resistance Syndrome (DESIR). Diabetes Care (2007) 1.53
Marfan syndrome in the third Millennium. Eur J Hum Genet (2002) 1.52
UMD (Universal Mutation Database): 2005 update. Hum Mutat (2005) 1.52
Improved prognosis of septic shock in patients with cirrhosis: a multicenter study*. Crit Care Med (2014) 1.52