Published in Heart on June 01, 2007
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The generalised k-Truncated Suffix Tree for time-and space-efficient searches in multiple DNA or protein sequences. Int J Bioinform Res Appl (2008) 1.88
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
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 in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet (2012) 1.65
Tissue Doppler imaging identifies myocardial dysfunction in adults with Marfan syndrome. Clin Cardiol (2007) 1.63
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood (2013) 1.61
Augmentation index relates to progression of aortic disease in adults with Marfan syndrome. Am J Hypertens (2009) 1.60
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Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J Exp Med (2013) 1.39
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. Dis Model Mech (2012) 1.39
Ontological phenotype standards for neurogenetics. Hum Mutat (2012) 1.35
A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family. Am J Med Genet A (2006) 1.34
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med (2014) 1.30
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet (2004) 1.29
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet (2009) 1.27
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Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment. Circulation (2006) 1.20
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Res (2011) 1.18
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet (2013) 1.17
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. J Biol Chem (2012) 1.16
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TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Hum Mutat (2002) 1.13
RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome. Hum Genet (2004) 1.12
Model-based gene set analysis for Bioconductor. Bioinformatics (2011) 1.11
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. Am J Med Genet A (2010) 1.08
Deletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biol (2014) 1.07
The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. Am J Med Genet A (2008) 1.06
Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees. PLoS One (2013) 1.05
Bayesian ontology querying for accurate and noise-tolerant semantic searches. Bioinformatics (2012) 1.05
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics (2011) 1.04
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). Am J Med Genet A (2012) 1.02
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy. Eur J Hum Genet (2013) 1.00
Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding. Hum Mutat (2006) 1.00
miR-181a promotes osteoblastic differentiation through repression of TGF-β signaling molecules. Int J Biochem Cell Biol (2012) 0.99
A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin. Mol Vis (2007) 0.97
A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis. J Mol Cell Cardiol (2006) 0.96
Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep. BMC Genomics (2006) 0.96
Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype. Hum Mutat (2015) 0.95
Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions. Nucleic Acids Res (2010) 0.95
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. Am J Med Genet A (2011) 0.95
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am J Hum Genet (2012) 0.94
Diagnosis and management of Marfan syndrome. Future Cardiol (2008) 0.93
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. Am J Hum Genet (2012) 0.92
Neurofibromin (Nf1) is required for skeletal muscle development. Hum Mol Genet (2011) 0.92
HotSwap for bioinformatics: a STRAP tutorial. BMC Bioinformatics (2006) 0.92
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene. Turk J Pediatr (2012) 0.92
A short ultraconserved sequence drives transcription from an alternate FBN1 promoter. Int J Biochem Cell Biol (2007) 0.91
Jannovar: a java library for exome annotation. Hum Mutat (2014) 0.90
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. J Cell Sci (2010) 0.89
Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology. BMC Bioinformatics (2014) 0.88
Bioinformatics for human genetics: promises and challenges. Hum Mutat (2011) 0.87
Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein. PLoS One (2011) 0.87
A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family. Exp Eye Res (2012) 0.86
Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis. BMC Med Inform Decis Mak (2012) 0.86
Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations. Genome Res (2013) 0.86
Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts. J Bone Miner Res (2009) 0.86
Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes. Clin Cardiol (2014) 0.85
MiR-497∼195 cluster microRNAs regulate osteoblast differentiation by targeting BMP signaling. J Bone Miner Res (2015) 0.84
The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta. J Vasc Surg (2013) 0.84
Exact score distribution computation for ontological similarity searches. BMC Bioinformatics (2011) 0.84
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. Am J Med Genet A (2014) 0.83
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project. Hum Mutat (2013) 0.82
Ascending aortic aneurysm and aortic valve dysfunction in bicuspid aortic valve disease. Int J Cardiol (2011) 0.81
Frequency of sleep apnea in adults with the Marfan syndrome. Am J Cardiol (2010) 0.81
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Augmentation index and the evolution of aortic disease in marfan-like syndromes. Am J Hypertens (2010) 0.81
Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice. Hum Mol Genet (2012) 0.80
Central pulse pressure and augmentation index in asymptomatic bicuspid aortic valve disease. Int J Cardiol (2011) 0.79
Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome. Am J Cardiol (2010) 0.79
Regulation of fibrillin-1 gene expression by Sp1. Gene (2013) 0.78
Binary state pattern clustering: a digital paradigm for class and biomarker discovery in gene microarray studies of cancer. J Comput Biol (2006) 0.77
The digital revolution in phenotyping. Brief Bioinform (2015) 0.77
FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression. Int J Cardiol (2012) 0.77
Predictors of outcome of mitral valve prolapse in patients with the Marfan syndrome. Am J Cardiol (2011) 0.77
Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics (2011) 0.77
Calcium-dependent self-association of the C-type lectin domain of versican. Int J Biochem Cell Biol (2005) 0.76
Minimum Information about a Genotyping Experiment (MIGEN). Stand Genomic Sci (2011) 0.76
Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5. Birth Defects Res A Clin Mol Teratol (2014) 0.76
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. Eur J Hum Genet (2015) 0.75
Integrating the human phenotype ontology into HeTOP terminology-ontology server. Stud Health Technol Inform (2013) 0.75
KG-COVID-19: a framework to produce customized knowledge graphs for COVID-19 response. bioRxiv (2020) 0.75
Summarizing phenotype evolution patterns from report cases. J Med Syst (2012) 0.75
Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes. Mol Cell Biochem (2014) 0.75