Prenatal diagnosis of cystic fibrosis: an experience of 181 cases.

An update on laboratory diagnosis of liver inherited diseases. Biomed Res Int (2013) 0.80

Genetic diseases that predispose to early liver cirrhosis. Int J Hepatol (2014) 0.75

Association of obesity and central fat distribution with carotid artery wall thickening in middle-aged women. Stroke (2002) 1.93

Genetic modifiers of liver disease in cystic fibrosis. JAMA (2009) 1.88

Combined CD133/CD44 expression as a prognostic indicator of disease-free survival in patients with colorectal cancer. Arch Surg (2012) 1.86

A validated HPLC stability-indicating method for the determination of diacerhein in bulk drug substance. J Pharm Biomed Anal (2005) 1.63

Lessons to be learned from the clinical management of a MEN 2A patient bearing a novel 634/640/700 mutation of the RET proto-oncogene. Clin Endocrinol (Oxf) (2012) 1.60

Ischemic neoangiogenesis enhanced by beta2-adrenergic receptor overexpression: a novel role for the endothelial adrenergic system. Circ Res (2005) 1.57

Heterotopic pregnancy: it is really a rare event? The importance to exclude it not only after in vitro fertilization but also in case of spontaneous conception. Fertil Steril (2010) 1.56

Interleukin-1β causes anxiety by interacting with the endocannabinoid system. J Neurosci (2012) 1.55

TNF-α-mediated anxiety in a mouse model of multiple sclerosis. Exp Neurol (2012) 1.55

miR-519d overexpression is associated with human obesity. Obesity (Silver Spring) (2010) 1.54

Increased BDNF promoter methylation in the Wernicke area of suicide subjects. Arch Gen Psychiatry (2010) 1.49

Loss of striatal cannabinoid CB1 receptor function in attention-deficit / hyperactivity disorder mice with point-mutation of the dopamine transporter. Eur J Neurosci (2011) 1.45

Antiretroviral treatment in pregnancy: a six-year perspective on recent trends in prescription patterns, viral load suppression, and pregnancy outcomes. AIDS Patient Care STDS (2009) 1.31

Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes. Am J Med Genet (2002) 1.28

Age-Related Reference Intervals of the Main Biochemical and Hematological Parameters in C57BL/6J, 129SV/EV and C3H/HeJ Mouse Strains. PLoS One (2008) 1.19

Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit. Am J Physiol Cell Physiol (2010) 1.17

Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management. J Pediatr Gastroenterol Nutr (2010) 1.16

HLA related genetic risk for coeliac disease. Gut (2007) 1.16

AKT participates in endothelial dysfunction in hypertension. Circulation (2004) 1.15

Novel synthetic, salt-resistant analogs of human beta-defensins 1 and 3 endowed with enhanced antimicrobial activity. Antimicrob Agents Chemother (2010) 1.14

Reproductive experience of HIV-infected women living in Europe. Hum Reprod (2008) 1.12

The efficacy and safety of telaprevir - a new protease inhibitor against hepatitis C virus. Expert Opin Investig Drugs (2010) 1.10

Prenatal diagnosis of congenital heart disease in the Naples area during the years 1994-1999 -- the experience of a joint fetal-pediatric cardiology unit. Prenat Diagn (2002) 1.10

Pediatric portal vein thrombosis: more on thrombophilic risk factors. J Pediatr Gastroenterol Nutr (2013) 1.10

Molecular genotyping of the Italian cohort of patients with hemophilia B. Haematologica (2005) 1.08

An altered gut microbiome profile in a child affected by Crohn's disease normalized after nutritional therapy. Am J Gastroenterol (2013) 1.06

High leptin/adiponectin ratio and serum triglycerides are associated with an "at-risk" phenotype in young severely obese patients. Obesity (Silver Spring) (2010) 1.04

miRNA and protein expression profiles of visceral adipose tissue reveal miR-141/YWHAG and miR-520e/RAB11A as two potential miRNA/protein target pairs associated with severe obesity. J Proteome Res (2012) 1.04

Paraoxonase and superoxide dismutase gene polymorphisms and noise-induced hearing loss. Clin Chem (2004) 1.01

BCR/ABL genes and leukemic phenotype: from molecular mechanisms to clinical correlations. Oncogene (2002) 1.00

Prevalence of sexually transmitted infections in HIV-1 infected pregnant women in Europe. Eur J Epidemiol (2007) 0.99

Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy. PLoS One (2008) 0.98

Preservation of striatal cannabinoid CB1 receptor function correlates with the antianxiety effects of fatty acid amide hydrolase inhibition. Mol Pharmacol (2010) 0.98

Butyrate as an effective treatment of congenital chloride diarrhea. Gastroenterology (2004) 0.98

Neutrophilic-chronic myeloid leukemia: low levels of p230 BCR/ABL mRNA and undetectable BCR/ABL protein may predict an indolent course. Cancer (2002) 0.98

Connectivity between posterior parietal cortex and ipsilateral motor cortex is altered in schizophrenia. Biol Psychiatry (2008) 0.97

Congenital diarrheal disorders: an updated diagnostic approach. Int J Mol Sci (2012) 0.96

Protein cross-talk in CD133+ colon cancer cells indicates activation of the Wnt pathway and upregulation of SRp20 that is potentially involved in tumorigenicity. Proteomics (2012) 0.96

Diprosopus conjoined twins: radiologic, autoptic, and histologic study of a case. Fetal Pediatr Pathol (2010) 0.96

Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations. Ophthalmology (2011) 0.96

Haemophilia A: molecular insights. Clin Chem Lab Med (2007) 0.96

MicroRNA-449a overexpression, reduced NOTCH1 signals and scarce goblet cells characterize the small intestine of celiac patients. PLoS One (2011) 0.95

A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis. Am J Med Genet A (2012) 0.95

Ledipasvir : a novel synthetic antiviral for the treatment of HCV infection. Expert Opin Investig Drugs (2014) 0.95

Carotid artery remodeling in middle-aged women with the metabolic syndrome (from the "Progetto ATENA" study). Am J Cardiol (2005) 0.94

Voluntary exercise and sucrose consumption enhance cannabinoid CB1 receptor sensitivity in the striatum. Neuropsychopharmacology (2010) 0.94

Multiple sclerosis and hepatitis C virus infection are associated with single nucleotide polymorphisms in interferon pathway genes. J Interferon Cytokine Res (2008) 0.93

Prenatal diagnosis of Seckel Syndrome on 3-dimensional sonography and magnetic resonance imaging. J Ultrasound Med (2009) 0.91

Extensive molecular analysis of patients bearing CFTR-related disorders. J Mol Diagn (2011) 0.91

Microbial diversity in natural whey cultures used for the production of Caciocavallo Silano PDO cheese. Int J Food Microbiol (2008) 0.91

Chromatin and DNA methylation dynamics of Helicobacter pylori-induced COX-2 activation. Int J Med Microbiol (2010) 0.91

Molecular response to imatinib in late chronic-phase chronic myeloid leukemia. Blood (2003) 0.91

The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype. Haematologica (2008) 0.91

CD66c is a novel marker for colorectal cancer stem cell isolation, and its silencing halts tumor growth in vivo. Cancer (2012) 0.91

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase. Hum Mutat (2011) 0.90

Decreased paraoxonase-2 expression in human carotids during the progression of atherosclerosis. Arterioscler Thromb Vasc Biol (2008) 0.90

In vitro resistance to macrolides and clindamycin by Group B Streptococcus isolated from pregnant and nonpregnant women. Infect Dis Obstet Gynecol (2012) 0.89

Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations. Genomics (2005) 0.89

Transcription factor TBX1 overexpression induces downregulation of proteins involved in retinoic acid metabolism: a comparative proteomic analysis. J Proteome Res (2009) 0.89

Hepatitis B virus reactivation after fludarabine-based regimens for indolent non-Hodgkin's lymphomas: high prevalence of acquired viral genomic mutations. Haematologica (2003) 0.89

Molecular diagnosis of cystic fibrosis: comparison of four analytical procedures. Clin Chem Lab Med (2003) 0.89

Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy. PLoS One (2012) 0.89

Denaturing HPLC procedure for factor IX gene scanning. Clin Chem (2003) 0.88

The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity. Clin Chem Lab Med (2007) 0.88

Radical-trapping activity, blood pressure, and carotid enlargement in women. Hypertension (2003) 0.88

Recurrent pregnancy loss and thrombophilia. Clin Lab (2007) 0.88

MK-5172 : a second-generation protease inhibitor for the treatment of hepatitis C virus infection. Expert Opin Investig Drugs (2014) 0.88

Prenatal ultrasound diagnosis of poland syndrome. Obstet Gynecol (2004) 0.87

Brain-derived neurotrophic factor controls cannabinoid CB1 receptor function in the striatum. J Neurosci (2010) 0.87

Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. Hum Mutat (2010) 0.87

Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis. Clin Chem (2009) 0.87

Gene mutation in microRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis? PLoS One (2013) 0.87

Warfarin anticoagulant therapy: a Southern Italy pharmacogenetics-based dosing model. PLoS One (2013) 0.87

Enhanced frequency of CFTR gene variants in couples who are candidates for assisted reproductive technology treatment. Clin Chem Lab Med (2011) 0.87

SRp20: an overview of its role in human diseases. Biochem Biophys Res Commun (2013) 0.87

Therapeutic angiogenesis in diabetic apolipoprotein E-deficient mice using bone marrow cells, functional hemangioblasts and metabolic intervention. Atherosclerosis (2009) 0.87

Comparative characteristics of mesenchymal stem cells from human bone marrow and placenta: CD10, CD49d, and CD56 make a difference. Stem Cells Dev (2008) 0.86

Molecular diagnostics: between chips and customized medicine. Clin Chem Lab Med (2010) 0.86

Six novel mutations in the proopiomelanocortin and melanocortin receptor 4 genes in severely obese adults living in southern Italy. Clin Chem (2005) 0.86

TrkB gene expression and DNA methylation state in Wernicke area does not associate with suicidal behavior. J Affect Disord (2011) 0.86

A mannose-binding lectin-defective haplotype is a risk factor for gastric cancer. Clin Chem (2006) 0.86