Published in BMC Genomics on September 22, 2006
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Alteration of introns in a hyaluronan synthase 1 (HAS1) minigene convert Pre-mRNA [corrected] splicing to the aberrant pattern in multiple myeloma (MM): MM patients harbor similar changes. PLoS One (2013) 0.78
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Computational definition of sequence motifs governing constitutive exon splicing. Genes Dev (2004) 4.59
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Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers (2004) 3.03
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. Hum Mol Genet (2003) 2.60
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Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. Hum Mutat (2006) 1.25
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Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. Int J Cancer (2005) 1.20
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. Am J Hum Genet (1999) 1.12
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Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds. Genes Chromosomes Cancer (1999) 0.94
A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families. Cancer Res (2001) 0.92
Expression of the DNA mismatch repair proteins hMLH1 and hPMS2 in normal human tissues. Br J Cancer (1997) 0.91
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SR-A1, a member of the human pre-mRNA splicing factor family, and its expression in colon cancer progression. Biol Chem (2004) 0.78
Identification of a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficiencies. Hum Mol Genet (2005) 0.78
Cell type specificity in alternative splicing of the human mismatch repair gene hMSH2. Eur J Hum Genet (2000) 0.77
Association of beta-adrenergic receptor polymorphisms and progression to heart failure in patients with idiopathic dilated cardiomyopathy. Am J Med (2004) 1.67
Analysis of the LKB1-STRAD-MO25 complex. J Cell Sci (2004) 1.65
Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y. Hum Mol Genet (2006) 1.36
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites. Nat Struct Mol Biol (2004) 1.33
Activation of MyoD-dependent transcription by cdk9/cyclin T2. Oncogene (2002) 1.33
De novo balanced chromosome rearrangements in prenatal diagnosis. Prenat Diagn (2009) 1.29
cGMP signals modulate cAMP levels in a compartment-specific manner to regulate catecholamine-dependent signaling in cardiac myocytes. Circ Res (2011) 1.29
A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome. Hum Genet (2005) 1.13
A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency. J Cell Physiol (2006) 1.09
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
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study. Orphanet J Rare Dis (2012) 1.05
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects. Hum Genet (2010) 1.02
Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome. Dig Dis Sci (2007) 0.96
Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy. J Child Neurol (2011) 0.93
Tumor-specific hyperactive low-molecular-weight cyclin E isoforms detection and characterization in non-metastatic colorectal tumors. Cancer Biol Ther (2006) 0.93
Duplication of 9 p11.2-p13.1: a benign cytogenetic variant. Prenat Diagn (2004) 0.92
Blocking p38/ERK crosstalk affects colorectal cancer growth by inducing apoptosis in vitro and in preclinical mouse models. Cancer Lett (2012) 0.91
Anticipation in lynch syndrome: where we are where we go. Curr Genomics (2011) 0.87
Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients. Int J Biol Markers (2012) 0.85
Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. J Pediatr (2013) 0.85
Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome. Cancer (2011) 0.84
Tumor suppressor LKB1 inhibits activation of signal transducer and activator of transcription 3 (STAT3) by thyroid oncogenic tyrosine kinase rearranged in transformation (RET)/papillary thyroid carcinoma (PTC). Mol Endocrinol (2007) 0.84
Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance. Clin Chem Lab Med (2004) 0.83
Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age. Am J Med Genet A (2007) 0.82
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population. Hum Mutat (2006) 0.82
Porous silicon surfaces: a candidate substrate for reverse protein arrays in cancer biomarker detection. Electrophoresis (2007) 0.81
Intestinal renin-angiotensin system is stimulated after deletion of Lkb1. Gut (2011) 0.81
The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome. J Pediatr Surg (2011) 0.80
Lack of genotoxic effect in workers exposed to very low doses of 1,3-butadiene. Arch Toxicol (2005) 0.79
The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience. Genet Test Mol Biomarkers (2010) 0.79
The mechanism of alternative splicing of the X-linked NDUFB11 gene of the respiratory chain complex I, impact of rotenone treatment in neuroblastoma cells. Biochim Biophys Acta (2012) 0.79
Effects of VEGF on phenotypic severity in children with hereditary hemorrhagic telangiectasia. J Pediatr Hematol Oncol (2009) 0.79
Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation. Fam Cancer (2011) 0.78
De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly. Am J Med Genet A (2013) 0.78
Influence of some detoxification enzyme polymorphisms on cytogenetic biomarkers between individuals exposed to very low doses of 1,3-butadiene. J Occup Environ Med (2009) 0.77
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes. BMC Cancer (2014) 0.76
Ganglioglioma arising in a Peutz-Jeghers patient: a case report with molecular implications. Acta Neuropathol (2006) 0.76
Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants. FEBS Lett (2005) 0.75
Papillary thyroid carcinoma in Peutz-Jeghers syndrome. Thyroid (2011) 0.75
Molecular genetic analysis in a case of ganglioglioma: identification of a new mutation. Neurosurgery (2008) 0.75
Procoagulant control strategies for the human blood clotting process. Conf Proc IEEE Eng Med Biol Soc (2015) 0.75
Pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and brain abscess. Respiration (2005) 0.75
Distribution of DYS391, DYS392, DYS393, DYS385, alleles in a Southern Italian population sample. J Forensic Sci (2002) 0.75
A semi-immobilizing system associated with microspectrofluorimetric and videoimaging analysis for intracytoplasmic calcium measurement in individual viable spermatozoa. J Biotechnol (2007) 0.75
The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics. Electrophoresis (2014) 0.75
Distribution of DYS19, DYS389 I, DYS389 II, DYS390 alleles in a southern Italian population sample. J Forensic Sci (2002) 0.75
SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome. Twin Res Hum Genet (2007) 0.75
The hUPF1-NMD factor controls the cellular transcript levels of different genes of complex I of the respiratory chain. Biochimie (2012) 0.75