Published in Am J Med Genet A on September 15, 2006
Reduced levels of immunoglobulin in children with autism correlates with behavioral symptoms. Autism Res (2008) 1.37
Current developments in the genetics of autism: from phenome to genome. J Neuropathol Exp Neurol (2008) 1.26
Phosphatase and tensin homologue (PTEN) regulates synaptic plasticity independently of its effect on neuronal morphology and migration. J Physiol (2011) 1.24
Membrane association of the PTEN tumor suppressor: molecular details of the protein-membrane complex from SPR binding studies and neutron reflection. PLoS One (2012) 1.12
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. J Med Genet (2007) 1.08
Autism, asthma, inflammation, and the hygiene hypothesis. Med Hypotheses (2007) 1.02
A mutant form of PTEN linked to autism. Protein Sci (2010) 0.93
Immune therapy in autism: historical experience and future directions with immunomodulatory therapy. Neurotherapeutics (2010) 0.88
PtdIns(4,5)P2-mediated cell signaling: emerging principles and PTEN as a paradigm for regulatory mechanism. Adv Exp Med Biol (2013) 0.85
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population. Genet Med (2014) 0.85
PTEN knockdown alters dendritic spine/protrusion morphology, not density. J Comp Neurol (2014) 0.82
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. J Allergy Clin Immunol (2016) 0.78
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet (2008) 25.83
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet (2007) 14.99
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Heritability of cardiovascular and personality traits in 6,148 Sardinians. PLoS Genet (2006) 8.19
Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet (2008) 7.31
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A (2008) 5.27
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci U S A (2008) 4.46
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07
Diagnosis and phenotypic classification of Wilson disease. Liver Int (2003) 3.63
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. J Clin Invest (2008) 3.51
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts. PLoS Genet (2007) 3.21
A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron. Haematologica (2008) 2.92
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
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. Hum Mol Genet (2004) 2.15
Phase II clinical evaluation of deferasirox, a once-daily oral chelating agent, in pediatric patients with beta-thalassemia major. Haematologica (2006) 2.14
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. Hum Mol Genet (2009) 1.87
Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function. Am J Hum Genet (2008) 1.77
IRAK-M is involved in the pathogenesis of early-onset persistent asthma. Am J Hum Genet (2007) 1.77
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
KLF1 gene mutations cause borderline HbA(2). Blood (2011) 1.71
Genotype-phenotype correlation in Italian children with Wilson's disease. J Hepatol (2008) 1.63
Amelioration of Sardinian beta0 thalassemia by genetic modifiers. Blood (2009) 1.62
Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells. Hum Mol Genet (2007) 1.59
Fetal HLA typing in beta thalassaemia: implications for haemopoietic stem-cell transplantation. Lancet (2003) 1.48
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population. Eur J Hum Genet (2013) 1.27
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet (2007) 1.27
Foxl2 functions in sex determination and histogenesis throughout mouse ovary development. BMC Dev Biol (2009) 1.23
Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin. Haematologica (2011) 1.23
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. PLoS Genet (2012) 1.23
COL4A1 is associated with arterial stiffness by genome-wide association scan. Circ Cardiovasc Genet (2009) 1.16
Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients. Br J Haematol (2004) 1.15
The central arterial burden of the metabolic syndrome is similar in men and women: the SardiNIA Study. Eur Heart J (2009) 1.10
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
Effect of consanguinity on screening for thalassemia. N Engl J Med (2002) 1.05
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. J Clin Endocrinol Metab (2012) 1.03
Gene test review. Alpha-thalassemia. Genet Med (2011) 1.02
Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis. Pediatr Nephrol (2008) 1.00
Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area. Eur J Hum Genet (2008) 1.00
FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences. Genomics (2004) 1.00
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. J Biol Chem (2009) 0.97
Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region. Eur J Hum Genet (2004) 0.96
A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. Br J Haematol (2002) 0.96
Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray. Clin Chem (2002) 0.95
Determination and stability of sex. Bioessays (2007) 0.95
Risk of malignant lymphoma following viral hepatitis infection. Int J Hematol (2008) 0.94
HLA-DQB1*0201 homozygosis predisposes to severe intestinal damage in celiac disease. Scand J Gastroenterol (2007) 0.93
A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening. J Mol Diagn (2006) 0.91
Antitissue transglutaminase antibodies outside celiac disease. J Pediatr Gastroenterol Nutr (2002) 0.91
Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity. Mol Immunol (2007) 0.90
Regulation of the human HBA genes by KLF4 in erythroid cell lines. Br J Haematol (2010) 0.89
The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease. J Gastroenterol (2006) 0.88
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
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
Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy. Eur J Pediatr (2008) 0.87
Klf1 affects DNase II-alpha expression in the central macrophage of a fetal liver erythroblastic island: a non-cell-autonomous role in definitive erythropoiesis. Mol Cell Biol (2011) 0.86
DAXX is a new AIRE-interacting protein. J Biol Chem (2010) 0.86
Trisomy 8 mosaicism in a patient born to a mother with 47,XXX. Am J Med Genet A (2003) 0.86
Glucose-6-phosphate dehydrogenase polymorphism and lymphoma risk. Tumori (2007) 0.85
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. Genet Test (2007) 0.85
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. J Hum Genet (2006) 0.85
Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy. J Clin Endocrinol Metab (2002) 0.84
H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers. Haematologica (2002) 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
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis. Mol Cell Probes (2012) 0.83
Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia. Genet Test (2003) 0.82
Gabapentin can improve dystonia in confirmed Wilson disease. Can J Neurol Sci (2014) 0.82
The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity. PLoS One (2010) 0.82
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome. Eur J Med Genet (2006) 0.82
A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis. J Mol Diagn (2010) 0.81
Thalassaemia-like carriers not linked to the beta-globin gene cluster. Br J Haematol (2006) 0.81
Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program. J Cyst Fibros (2011) 0.80
The distal beta-globin CACCC box is required for maximal stimulation of the beta-globin gene by EKLF. Br J Haematol (2004) 0.80
In vivo activation of the human δ-globin gene: the therapeutic potential in β-thalassemic mice. Haematologica (2013) 0.80
Quality of life and survival of patients with beta-thalassemia major. Haematologica (2004) 0.80
RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease. Genet Test Mol Biomarkers (2009) 0.80
Frequency of hemochromatosis C282Y and H63D mutations in Sardinia. Genet Test (2002) 0.80
Decline of lactase activity and c/t-13910 variant in Sardinian childhood. J Pediatr Gastroenterol Nutr (2007) 0.80
Household contact with pets and birds and risk of lymphoma. Cancer Causes Control (2010) 0.80