Published in Eur J Hum Genet on March 13, 2013
The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy. J Neurol (2013) 0.88
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Wilson's disease: A review of what we have learned. World J Hepatol (2015) 0.79
PAI-1 4G-4G and MTHFR 677TT in non-hepatitis C virus/hepatitis B virus-related liver cirrhosis. World J Hepatol (2015) 0.75
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman. J Hum Genet (2016) 0.75
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A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res (1988) 77.80
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Runs of homozygosity in European populations. Am J Hum Genet (2008) 5.34
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet (1993) 4.70
Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages. Am J Hum Genet (1983) 1.44
Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis. Am J Hum Genet (1985) 1.41
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet (2006) 1.39
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. Hum Mutat (1999) 1.27
High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs. J Pediatr Gastroenterol Nutr (2008) 1.08
EX-HOM (EXome HOMozygosity): a proof of principle. Hum Hered (2011) 1.06
Epidemiologic study of hepatolenticular degeneration (Wilson's disease) in Sardinia (1902-1983). Acta Neurol Scand (1985) 1.02
Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI). Ann Hum Genet (2011) 1.01
Incidence of classic PKU in Italy estimated from consanguineous marriages and from neonatal screening. Clin Genet (1983) 1.00
Collaborative genomics for human health and cooperation in the Mediterranean region. Nat Genet (2010) 0.99
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. Genet Test (2007) 0.85
Diagnosis and phenotypic classification of Wilson disease. Liver Int (2003) 3.63
Randomized phase II trial of deferasirox (Exjade, ICL670), a once-daily, orally-administered iron chelator, in comparison to deferoxamine in thalassemia patients with transfusional iron overload. Haematologica (2006) 2.54
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood (2011) 2.29
Phase II clinical evaluation of deferasirox, a once-daily oral chelating agent, in pediatric patients with beta-thalassemia major. Haematologica (2006) 2.14
Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors. Proc Natl Acad Sci U S A (2007) 2.01
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. Genome Biol (2013) 1.90
Linkage disequilibrium patterns and tagSNP transferability among European populations. Am J Hum Genet (2005) 1.72
The netrin-1 receptors UNC5H are putative tumor suppressors controlling cell death commitment. Proc Natl Acad Sci U S A (2003) 1.69
Genotype-phenotype correlation in Italian children with Wilson's disease. J Hepatol (2008) 1.63
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med (2011) 1.62
Learning from oncocytic tumors: Why choose inefficient mitochondria? Biochim Biophys Acta (2010) 1.40
Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III. Cancer Res (2006) 1.39
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. Eur J Pediatr (2009) 1.38
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma. Hum Mol Genet (2007) 1.27
Mice deficient in the X-linked lymphoproliferative disease gene sap exhibit increased susceptibility to murine gammaherpesvirus-68 and hypo-gammaglobulinemia. J Med Virol (2003) 1.24
Read count approach for DNA copy number variants detection. Bioinformatics (2011) 1.23
Genetic predisposition to familial neuroblastoma: identification of two novel genomic regions at 2p and 12p. Hum Hered (2007) 1.19
TOM: a web-based integrated approach for identification of candidate disease genes. Nucleic Acids Res (2006) 1.15
ETHNOS : A versatile electronic tool for the development and curation of national genetic databases. Hum Genomics (2010) 1.15
Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies. J Oncol (2010) 1.12
The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization. Hum Mol Genet (2009) 1.10
Relevance of mitochondrial genetics and metabolism in cancer development. Cold Spring Harb Perspect Biol (2013) 1.08
Single line particle focusing induced by viscoelasticity of the suspending liquid: theory, experiments and simulations to design a micropipe flow-focuser. Lab Chip (2012) 1.08
High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs. J Pediatr Gastroenterol Nutr (2008) 1.08
EX-HOM (EXome HOMozygosity): a proof of principle. Hum Hered (2011) 1.06
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. Am J Med Genet A (2007) 1.03
Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI). Ann Hum Genet (2011) 1.01
Weak linkage at 4p16 to predisposition for human neuroblastoma. Oncogene (2002) 1.00
Collaborative genomics for human health and cooperation in the Mediterranean region. Nat Genet (2010) 0.99
Respiratory complex I is essential to induce a Warburg profile in mitochondria-defective tumor cells. Cancer Metab (2013) 0.96
The tyrosine kinase receptor RET interacts in vivo with aryl hydrocarbon receptor-interacting protein to alter survivin availability. J Clin Endocrinol Metab (2009) 0.96
Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray. Clin Chem (2002) 0.95
A mutation threshold distinguishes the antitumorigenic effects of the mitochondrial gene MTND1, an oncojanus function. Cancer Res (2011) 0.95
TOM: enhancement and extension of a tool suite for in silico approaches to multigenic hereditary disorders. Bioinformatics (2007) 0.94
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. Am J Med Genet A (2006) 0.94
Molecular features of thyroid oncocytic tumors. Mol Cell Endocrinol (2010) 0.94
Simple method for haplotyping the poly(TG) repeat in individuals carrying the IVS8 5T allele in the CFTR gene. Clin Chem (2007) 0.93
The RHNumtS compilation: features and bioinformatics approaches to locate and quantify Human NumtS. BMC Genomics (2008) 0.93
Double heterozygous mutations involving both HNF1A/MODY3 and HNF4A/MODY1 genes: a case report. Diabetes Care (2010) 0.93
Glenoid and humeral head bone loss in traumatic anterior glenohumeral instability: a systematic review. Knee Surg Sports Traumatol Arthrosc (2013) 0.93
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. Dev Med Child Neurol (2011) 0.92
Cell-line specific chromatin acetylation at the Sox10-Pax3 enhancer site modulates the RET proto-oncogene expression. FEBS Lett (2002) 0.91
3-Amino-2(5H)furanones as inhibitors of subgenomic hepatitis C virus RNA replication. Bioorg Med Chem (2008) 0.91
Allelic loss on chromosomes 2q21 and 19p 13.2 in oxyphilic thyroid tumors. Int J Cancer (2004) 0.90
Linkage analysis in families with recurrent neuroblastoma. Ann N Y Acad Sci (2002) 0.90
The FOXE1 locus is a major genetic determinant for familial nonmedullary thyroid carcinoma. Int J Cancer (2013) 0.90
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. Eur J Hum Genet (2012) 0.89
Searching for a needle in the haystack: comparing six methods to evaluate heteroplasmy in difficult sequence context. Biotechnol Adv (2011) 0.89
The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease. J Gastroenterol (2006) 0.88
Enantioselective syntheses and cytotoxicity of N,O-nucleosides. J Med Chem (2003) 0.87
Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH. Eur J Med Genet (2010) 0.87
Biological strategies to enhance healing of the avascular area of the meniscus. Stem Cells Int (2011) 0.87
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells. Hum Mutat (2009) 0.87
Allan-Herndon-Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels. Eur J Med Genet (2013) 0.87
Synthesis of C-4'truncated phosphonated carbocyclic 2'-oxa-3'-azanucleosides as antiviral agents. J Org Chem (2010) 0.85
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. Genet Test (2007) 0.85
One year outcome of manual alcohol-assisted removal of Salzmann's nodular degeneration. Graefes Arch Clin Exp Ophthalmol (2009) 0.85
An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project. Hemoglobin (2009) 0.85
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. Eur J Hum Genet (2007) 0.84
Detection of runs of homozygosity from whole exome sequencing data: state of the art and perspectives for clinical, population and epidemiological studies. Hum Hered (2014) 0.84
Particle alignment in a viscoelastic liquid flowing in a square-shaped microchannel. Lab Chip (2013) 0.84
SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. Thromb Haemost (2016) 0.83
Fluorescence quantitation of thyrocyte iodide accumulation with the yellow fluorescent protein variant YFP-H148Q/I152L. Anal Biochem (2007) 0.83
Effect of phosphonated carbocyclic 2'-oxa-3'-aza-nucleoside on human T-cell leukemia virus type 1 infection in vitro. Antimicrob Agents Chemother (2007) 0.83
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis. Mol Cell Probes (2012) 0.83
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease. Am J Hum Genet (2002) 0.83
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype. Epilepsia (2013) 0.82
Gabapentin can improve dystonia in confirmed Wilson disease. Can J Neurol Sci (2014) 0.82
First example of direct RuO4-catalyzed oxidation of isoxazolidines to 3-isoxazolidones. J Org Chem (2007) 0.82
Mitochondrial DNA mutations in oncocytic adnexal lacrimal glands of the conjunctiva. Arch Ophthalmol (2011) 0.82
Genome-wide search for loss of heterozygosity in Burkitt lymphoma cell lines. Genes Chromosomes Cancer (2002) 0.82
Synthesis and biological activity of isoxazolidinyl polycyclic aromatic hydrocarbons: potential DNA intercalators. J Med Chem (2006) 0.82
Ret, Abl1 (cAbl) and Trp53 gene fragmentations in comet-FISH assay act as in vivo biomarkers of radiation exposure in C57BL/6 and CBA/J mice. Radiat Res (2006) 0.81
Polymorphic NumtS trace human population relationships. Hum Genet (2011) 0.81
High variability of TLR4 gene in different ethnic groups in Iran. Innate Immun (2011) 0.80
C620R mutation of the murine ret proto-oncogene: loss of function effect in homozygotes and possible gain of function effect in heterozygotes. Int J Cancer (2007) 0.80
RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease. Genet Test Mol Biomarkers (2009) 0.80
Bone bruises associated with acute ankle ligament injury: do they need treatment? Knee Surg Sports Traumatol Arthrosc (2013) 0.80
Phosphonated carbocyclic 2'-oxa-3'-azanucleosides as new antiretroviral agents. J Med Chem (2007) 0.80
Enhanced sensitivity of the RET proto-oncogene to ionizing radiation in vitro. Cancer Res (2008) 0.79
A new mutation of Wilson's disease P-type ATPase gene in a patient with cirrhosis and coombs-positive hemolytic anemia. Dig Dis Sci (2006) 0.79
Direct diagnosis of Wilson disease by molecular genetics. J Pediatr (2006) 0.79
DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient. Mol Cell Probes (2011) 0.79