Published in Neurogenetics on July 07, 2009
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Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
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Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet (2013) 1.88
Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation. Eur Heart J (2006) 1.82
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Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. Eur J Hum Genet (2006) 1.71
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. Nephrol Dial Transplant (2009) 1.62
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. Hum Mutat (2008) 1.44
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2010) 1.41
Tag SNPs of the ancestral haplotype 57.1 do not substitute HLA-B*57:01 typing for eligibility to abacavir treatment in the Italian population. Pharmacogenomics (2012) 1.41
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Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Res (2012) 1.38
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat (2008) 1.34
The use of COLD-PCR and high-resolution melting analysis improves the limit of detection of KRAS and BRAF mutations in colorectal cancer. J Mol Diagn (2010) 1.26
Alkaptonuria, ochronosis, and ochronotic arthropathy. Semin Arthritis Rheum (2004) 1.24
The metabonomic signature of celiac disease. J Proteome Res (2009) 1.24
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res (2011) 1.22
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet (2013) 1.22
Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients. J Am Soc Nephrol (2002) 1.21
BRCA1-related malignancies in a family presenting with von Recklinghausen's disease. Gynecol Oncol (2002) 1.19
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. Hum Mutat (2007) 1.14
Human striatal neuroblasts develop and build a striatal-like structure into the brain of Huntington's disease patients after transplantation. Exp Neurol (2009) 1.10
Prevalence of HPV high and low risk types in cervical samples from the Italian general population: a population based study. BMC Infect Dis (2010) 1.08
Genetic and epigenetic factors in regulation of microRNA in colorectal cancers. Methods (2012) 1.07
A PALB2 germline mutation associated with hereditary breast cancer in Italy. Fam Cancer (2009) 1.07
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. Dig Liver Dis (2013) 1.06
Genetic insights into familial tumors of the nervous system. Am J Med Genet C Semin Med Genet (2004) 1.06
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. Neuromuscul Disord (2006) 1.06
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity. Pediatr Nephrol (2009) 1.05
Nucleotide variation in Sabin type 2 poliovirus from an immunodeficient patient with poliomyelitis. J Gen Virol (2003) 1.05
The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome. Cancer Biomark (2006) 1.04
Association between single nucleotide polymorphisms in the XRCC1 and RAD51 genes and clinical radiosensitivity in head and neck cancer. Radiother Oncol (2011) 1.04
Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers. Eur J Cancer (2005) 1.02
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The growing complexity of the intestinal polyposis syndromes. Am J Med Genet A (2013) 0.97
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MPB-07 reduces the inflammatory response to Pseudomonas aeruginosa in cystic fibrosis bronchial cells. Am J Respir Cell Mol Biol (2006) 0.93
Transcription factor oligodeoxynucleotides to NF-kappaB inhibit transcription of IL-8 in bronchial cells. Am J Respir Cell Mol Biol (2008) 0.93
Thymidylate synthase expression and genotype have no major impact on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil. Pharmacol Res (2011) 0.93
Lone and secondary nonvalvular atrial fibrillation: role of a genetic susceptibility. Int J Cardiol (2006) 0.92
Induction of IL-6 gene expression in a CF bronchial epithelial cell line by Pseudomonas aeruginosa is dependent on transcription factors belonging to the Sp1 superfamily. Biochem Biophys Res Commun (2007) 0.92
GM2 gangliosidosis variant B1 neuroradiological findings. J Neurol (2003) 0.92
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Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res (2014) 0.89
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The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. Breast Cancer Res Treat (2010) 0.89
Pyrogallol, an active compound from the medicinal plant Emblica officinalis, regulates expression of pro-inflammatory genes in bronchial epithelial cells. Int Immunopharmacol (2008) 0.89
Interleukin-10 promoter polymorphisms influence susceptibility to ulcerative colitis in a gender-specific manner. Scand J Gastroenterol (2008) 0.88
Trimethylangelicin reduces IL-8 transcription and potentiates CFTR function. Am J Physiol Lung Cell Mol Physiol (2010) 0.88
Identification and classification of hereditary nonpolyposis colorectal cancer (Lynch syndrome): adapting old concepts to recent advancements. Report from the Italian Association for the study of Hereditary Colorectal Tumors Consensus Group. Dis Colon Rectum (2007) 0.87
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome. Eur J Hum Genet (2009) 0.87
Different molecular mechanisms underlie genomic deletions in the MLH1 Gene. Hum Mutat (2002) 0.87
The policy of public health genomics in Italy. Health Policy (2013) 0.87
Effects of decoy molecules targeting NF-kappaB transcription factors in Cystic fibrosis IB3-1 cells: recruitment of NF-kappaB to the IL-8 gene promoter and transcription of the IL-8 gene. Artif DNA PNA XNA (2012) 0.87
Docking of molecules identified in bioactive medicinal plants extracts into the p50 NF-kappaB transcription factor: correlation with inhibition of NF-kappaB/DNA interactions and inhibitory effects on IL-8 gene expression. BMC Struct Biol (2008) 0.87
High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene. BMC Cancer (2011) 0.86
Maternal-fetal flow, negative events, and preeclampsia: role of ACE I/D polymorphism. Hypertension (2003) 0.86
Lack of association between the HLA-DRB1 locus and post-streptococcal reactive arthritis and acute rheumatic fever in Italian children. Semin Arthritis Rheum (2004) 0.86
Human striatum remodelling after neurotransplantation in Huntington's disease. Stereotact Funct Neurosurg (2014) 0.85
New trends in non-invasive prenatal diagnosis: applications of dielectrophoresis-based Lab-on-a-chip platforms to the identification and manipulation of rare cells. Int J Mol Med (2008) 0.85
Decoy oligodeoxyribonucleotides and peptide nucleic acids-DNA chimeras targeting nuclear factor kappa-B: inhibition of IL-8 gene expression in cystic fibrosis cells infected with Pseudomonas aeruginosa. Biochem Pharmacol (2010) 0.85
Anti-inflammatory effect of miglustat in bronchial epithelial cells. J Cyst Fibros (2008) 0.85
Bergamot (Citrus bergamia Risso) fruit extracts as γ-globin gene expression inducers: phytochemical and functional perspectives. J Agric Food Chem (2009) 0.85
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. Genet Test (2008) 0.85
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. Breast Cancer Res Treat (2008) 0.85
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A novel frameshift mutation (+A) at codon 18 of the beta-globin gene associated with high persistence of fetal hemoglobin phenotype and deltabeta-thalassemia. Acta Haematol (2008) 0.83
Modulation of expression of IL-8 gene in bronchial epithelial cells by 5-methoxypsoralen. Int Immunopharmacol (2009) 0.83
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Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene. Inflamm Bowel Dis (2004) 0.82
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Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma. Hum Mol Genet (2006) 0.81