Published in J Hum Genet on June 10, 2010
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet (2011) 1.16
A quantitative promoter methylation profile of prostate cancer. Clin Cancer Res (2004) 2.06
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
Quantitative RARbeta2 hypermethylation: a promising prostate cancer marker. Clin Cancer Res (2004) 1.76
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Three epigenetic biomarkers, GDF15, TMEFF2, and VIM, accurately predict bladder cancer from DNA-based analyses of urine samples. Clin Cancer Res (2010) 1.62
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Cardiac involveent in type 1 myotonic dystrophy. Rev Port Cardiol (2007) 1.39
Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease. Hum Mol Genet (2005) 1.38
High promoter methylation levels of APC predict poor prognosis in sextant biopsies from prostate cancer patients. Clin Cancer Res (2007) 1.30
Human periprostatic adipose tissue promotes prostate cancer aggressiveness in vitro. J Exp Clin Cancer Res (2012) 1.28
Diabetic nephropathy amelioration by a low-dose sitagliptin in an animal model of type 2 diabetes (Zucker diabetic fatty rat). Exp Diabetes Res (2011) 1.23
Overexpressing leptin genetic polymorphism (-2548 G/A) is associated with susceptibility to prostate cancer and risk of advanced disease. Prostate (2004) 1.20
TCF21 and PCDH17 methylation: An innovative panel of biomarkers for a simultaneous detection of urological cancers. Epigenetics (2011) 1.20
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat (2011) 1.20
MT1G hypermethylation is associated with higher tumor stage in prostate cancer. Cancer Epidemiol Biomarkers Prev (2005) 1.18
Obesity and prostate cancer: gene expression signature of human periprostatic adipose tissue. BMC Med (2012) 1.13
Quantitative GSTP1 hypermethylation in bodily fluids of patients with prostate cancer. Urology (2002) 1.11
8q gain is an independent predictor of poor survival in diagnostic needle biopsies from prostate cancer suspects. Clin Cancer Res (2006) 1.11
Epigenetic heterogeneity of high-grade prostatic intraepithelial neoplasia: clues for clonal progression in prostate carcinogenesis. Mol Cancer Res (2006) 1.09
Up-regulation of the extracellular matrix remodeling genes, biglycan, neutrophil gelatinase-associated lipocalin, and matrix metalloproteinase-9 in familial amyloid polyneuropathy. FASEB J (2004) 1.06
Regular physical exercise as a strategy to improve antioxidant and anti-inflammatory status: benefits in type 2 diabetes mellitus. Oxid Med Cell Longev (2012) 1.06
Quantitative promoter methylation analysis of multiple cancer-related genes in renal cell tumors. BMC Cancer (2007) 1.06
Deregulated expression of selected histone methylases and demethylases in prostate carcinoma. Endocr Relat Cancer (2013) 1.03
I105V polymorphism and promoter methylation of the GSTP1 gene in prostate adenocarcinoma. Cancer Epidemiol Biomarkers Prev (2002) 1.00
Epigenetic regulation of Wnt signaling pathway in urological cancer. Epigenetics (2010) 0.99
Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome. Hum Mutat (2010) 0.99
The Transthyretin Amyloidosis Outcomes Survey (THAOS) registry: design and methodology. Curr Med Res Opin (2012) 0.97
Sleep characteristics of amyotrophic lateral sclerosis in patients with preserved diaphragmatic function. Amyotroph Lateral Scler (2007) 0.96
Metabolic susceptibility genes and prostate cancer risk in a southern European population: the role of glutathione S-transferases GSTM1, GSTM3, and GSTT1 genetic polymorphisms. Prostate (2004) 0.94
Ambulatory electrocardiographic monitoring in type 1 myotonic dystrophy. Rev Port Cardiol (2007) 0.94
A randomized, placebo-controlled trial of memantine for functional disability in amyotrophic lateral sclerosis. Amyotroph Lateral Scler (2010) 0.94
Macrophagic myofasciitis and vaccination: consequence or coincidence? Rheumatol Int (2014) 0.94
Epigenetic regulation of MDR1 gene through post-translational histone modifications in prostate cancer. BMC Genomics (2013) 0.93
Frequent 14-3-3 sigma promoter methylation in benign and malignant prostate lesions. DNA Cell Biol (2005) 0.93
Linkage between polymorphisms in the prostate specific antigen ARE1 gene region, prostate cancer risk, and circulating tumor cells. Prostate (2002) 0.93
Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden. Eur J Hum Genet (2004) 0.93
Infantile neuroaxonal dystrophy: what's most important for the diagnosis? Eur J Paediatr Neurol (2008) 0.92
The role of vitamin D receptor gene polymorphisms in the susceptibility to prostate cancer of a southern European population. J Hum Genet (2002) 0.92
Ki-67 index enhances the prognostic accuracy of the urothelial superficial bladder carcinoma risk group classification. Int J Cancer (2003) 0.91
Nocturnal pulse oximetry: a new approach to establish the appropriate time for non-invasive ventilation in ALS patients. Amyotroph Lateral Scler Other Motor Neuron Disord (2003) 0.91
Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M. J Neurol Neurosurg Psychiatry (2013) 0.91
Linkage of angiotensin I-converting enzyme gene insertion/deletion polymorphism to the progression of human prostate cancer. J Pathol (2004) 0.90
Epigenetic regulation of EFEMP1 in prostate cancer: biological relevance and clinical potential. J Cell Mol Med (2014) 0.90
First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol (2016) 0.90
CSF1R copy number changes, point mutations, and RNA and protein overexpression in renal cell carcinomas. Mod Pathol (2009) 0.89
Overexpression of the mitotic checkpoint genes BUB1 and BUBR1 is associated with genomic complexity in clear cell kidney carcinomas. Cell Oncol (2008) 0.89
Acetylation genotype and the genetic susceptibility to prostate cancer in a southern European population. Prostate (2005) 0.89
Feasibility of differential diagnosis of kidney tumors by comparative genomic hybridization of fine needle aspiration biopsies. Genes Chromosomes Cancer (2010) 0.88
Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition? J Child Neurol (2012) 0.88
Deposition and passage of transthyretin through the blood-nerve barrier in recipients of familial amyloid polyneuropathy livers. Lab Invest (2004) 0.87
Chronic exposure to volcanic environments and cancer incidence in the Azores, Portugal. Sci Total Environ (2006) 0.87
Repetitive nerve stimulation in myasthenia gravis--relative sensitivity of different muscles. Clin Neurophysiol (2004) 0.87
Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations. Neuromuscul Disord (2011) 0.86
Body mass index and resistance to recombinant human erythropoietin therapy in maintenance hemodialysis patients. Ren Fail (2013) 0.86
Quantification of transthyretin kinetic stability in human plasma using subunit exchange. Biochemistry (2014) 0.85
Prognostic value of opioid binding protein/cell adhesion molecule-like promoter methylation in bladder carcinoma. Eur J Cancer (2011) 0.85
Norfolk QOL-DN: validation of a patient reported outcome measure in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst (2014) 0.84
PTSD elderly war veterans: a clinical controlled pilot study. Cyberpsychol Behav Soc Netw (2010) 0.84
Differential effects of acute (extenuating) and chronic (training) exercise on inflammation and oxidative stress status in an animal model of type 2 diabetes mellitus. Mediators Inflamm (2011) 0.84
Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. Muscle Nerve (2011) 0.84
Bilirubin dependence on UGT1A1 polymorphisms, hemoglobin, fasting time and body mass index. Am J Med Sci (2012) 0.83
Liver and muscle in morbid obesity: the interplay of fatty liver and insulin resistance. PLoS One (2012) 0.83
Pain and calf hypertrophy associated with spontaneous repetitive discharges treated with botulinum toxin. Clin Neurophysiol (2005) 0.83
Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects. Blood Cells Mol Dis (2012) 0.83
Variobox: automatic detection and annotation of human genetic variants. Hum Mutat (2013) 0.83
Outcome in prostate cancer: association with endothelial nitric oxide synthase Glu-Asp298 polymorphism at exon 7. Clin Cancer Res (2002) 0.83
The corticomotor threshold is not dependent on disease duration in amyotrophic lateral sclerosis (ALS). Amyotroph Lateral Scler Other Motor Neuron Disord (2002) 0.82
Expression changes of the MAD mitotic checkpoint gene family in renal cell carcinomas characterized by numerical chromosome changes. Virchows Arch (2007) 0.82
Executive functioning in alcoholics following an mHealth cognitive stimulation program: randomized controlled trial. J Med Internet Res (2014) 0.82
Autonomic dysfunction affects cerebral neurovascular coupling. Clin Auton Res (2011) 0.82
A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth. Fetal Pediatr Pathol (2010) 0.82
Steroid hormone genotypes ARStuI and ER325 are linked to the progression of human prostate cancer. Cancer Genet Cytogenet (2003) 0.82
Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies. Muscle Nerve (2003) 0.82
Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP. Curr Opin Neurol (2016) 0.81
Tumor cell-educated periprostatic adipose tissue acquires an aggressive cancer-promoting secretory profile. Cell Physiol Biochem (2012) 0.81
Endothelial nitric oxide synthase gene polymorphisms and the shedding of circulating tumour cells in the blood of prostate cancer patients. Cancer Lett (2003) 0.81
Third and fourth generation fluoroquinolone antibacterials: a systematic review of safety and toxicity profiles. Curr Drug Saf (2014) 0.81
Oxidized low-density lipoprotein and lipoprotein(a) levels in chronic kidney disease patients under hemodialysis: influence of adiponectin and of a polymorphism in the apolipoprotein(a) gene. Hemodial Int (2012) 0.80
Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. Curr Opin Neurol (2016) 0.80
Mutant fibrinogen A-alpha-chain associated with hereditary renal amyloidosis and peripheral neuropathy. Amyloid (2004) 0.80
Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression. Hum Genet (2013) 0.80
Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes. Blood Cells Mol Dis (2005) 0.80
Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I. Blood Cells Mol Dis (2009) 0.80
Artelastin is a cytotoxic prenylated flavone that disturbs microtubules and interferes with DNA replication in MCF-7 human breast cancer cells. Life Sci (2005) 0.79
Awareness and motives for use and non-use of preimplantation genetic diagnosis in familial amyloid polyneuropathy mutation carriers. Prenat Diagn (2014) 0.79
Cytotoxicity and genotoxicity of chitooligosaccharides upon lymphocytes. Int J Biol Macromol (2011) 0.79
Assessment of frontal brain functions in alcoholics following a health mobile cognitive stimulation approach. Stud Health Technol Inform (2013) 0.79
Liquid chromatographic methods for the quantification of catecholamines and their metabolites in several biological samples--a review. Anal Chim Acta (2012) 0.79
Acquired amyloid neuropathy in a Portuguese patient after domino liver transplantation. Muscle Nerve (2010) 0.79
Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy. Biochem Biophys Res Commun (2007) 0.79
Impact of a School-Based Intervention Protocol - ACORDA Project - On Adipokines in An Overweight and Obese Pediatric Population. Pediatr Exerc Sci (2016) 0.78
First HPLC-UV method for rapid and simultaneous quantification of phenobarbital, primidone, phenytoin, carbamazepine, carbamazepine-10,11-epoxide, 10,11-trans-dihydroxy-10,11-dihydrocarbamazepine, lamotrigine, oxcarbazepine and licarbazepine in human plasma. J Chromatogr B Analyt Technol Biomed Life Sci (2013) 0.78
Galactosialidosis presenting as nonimmune fetal hydrops: a case report. Prenat Diagn (2009) 0.78