Published in J Clin Endocrinol Metab on May 08, 2007
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A mouse model demonstrates a multigenic origin of congenital hypothyroidism. Endocrinology (2005) 1.89
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An integrated regulatory network controlling survival and migration in thyroid organogenesis. Dev Biol (2004) 1.55
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Somatic PTPN11 mutations in childhood acute myeloid leukaemia. Br J Haematol (2005) 1.25
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Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. Eur J Hum Genet (2009) 1.22
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab (2006) 1.21
Genetics of healthy aging in Europe: the EU-integrated project GEHA (GEnetics of Healthy Aging). Ann N Y Acad Sci (2007) 1.21
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
A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991-1998). J Clin Endocrinol Metab (2002) 1.19
Essential roles for Fe65, Alzheimer amyloid precursor-binding protein, in the cellular response to DNA damage. J Biol Chem (2006) 1.16
Endometriosis and organochlorinated environmental pollutants: a case-control study on Italian women of reproductive age. Environ Health Perspect (2009) 1.13
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Hum Mutat (2011) 1.12
Low fatty acid amide hydrolase and high anandamide levels are associated with failure to achieve an ongoing pregnancy after IVF and embryo transfer. Mol Hum Reprod (2002) 1.12
Role of galectin-3 in diabetic nephropathy. J Am Soc Nephrol (2003) 1.10
In vivo role of different domains and of phosphorylation in the transcription factor Nkx2-1. BMC Dev Biol (2011) 1.10
Duox expression and related H2O2 measurement in mouse thyroid: onset in embryonic development and regulation by TSH in adult. J Endocrinol (2007) 1.04
Oxidative stress in diabetes-induced endothelial dysfunction involvement of nitric oxide and protein kinase C. Free Radic Biol Med (2003) 1.03
Galectin-3/AGE-receptor 3 knockout mice show accelerated AGE-induced glomerular injury: evidence for a protective role of galectin-3 as an AGE receptor. FASEB J (2004) 1.03
Development of age-dependent glomerular lesions in galectin-3/AGE-receptor-3 knockout mice. Am J Physiol Renal Physiol (2005) 1.03
What are the effects of maternal and pre-adult environments on ageing in humans, and are there lessons from animal models? Mech Ageing Dev (2005) 1.02
Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia. Leuk Res (2004) 0.99
Diagnostic evaluation of women experiencing repeated in vitro fertilization failure. Eur J Obstet Gynecol Reprod Biol (2005) 0.99
Human optimal functioning: the genetics of positive orientation towards self, life, and the future. Behav Genet (2009) 0.98
Heritability and shared genetic effects of asthma and hay fever: an Italian study of young twins. Twin Res Hum Genet (2008) 0.98
CT60 single nucleotide polymorphisms of the cytotoxic T-lymphocyte-associated antigen-4 gene region is associated with Graves' disease in an Italian population. Thyroid (2005) 0.97
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. Eur J Hum Genet (2008) 0.94
Circulating mitochondrial DNA increases with age and is a familiar trait: Implications for "inflamm-aging". Eur J Immunol (2014) 0.93
An update on the Italian Twin Register: advances in cohort recruitment, project building and network development. Twin Res Hum Genet (2012) 0.93
Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. Am J Hum Genet (2004) 0.92
Gene expression profiling at early organogenesis reveals both common and diverse mechanisms in foregut patterning. Dev Biol (2011) 0.91
MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1. Hum Mol Genet (2010) 0.91
Research understanding, attitude and awareness towards biobanking: a survey among Italian twin participants to a genetic epidemiological study. BMC Med Ethics (2009) 0.91
Heritability of neurocognitive functioning in the elderly: evidence from an Italian twin study. Age Ageing (2008) 0.90
Bisphenol A interferes with thyroid specific gene expression. Toxicology (2012) 0.89
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector. Biochem J (2005) 0.88
Correlation between metal ions and clinical findings in subjects affected by Alzheimer's disease. Ann Ist Super Sanita (2005) 0.88
The co-occurrence between internalizing and externalizing behaviors. A general population twin study. Eur Child Adolesc Psychiatry (2007) 0.88
Glutathione transferase polymorphisms and risk of endometriosis associated with polychlorinated biphenyls exposure in Italian women: a gene-environment interaction. Fertil Steril (2012) 0.88
A preservation method that allows recovery of intact RNA from tissues dissected by laser capture microdissection. Anal Biochem (2002) 0.87
Conditional inactivation of the E-cadherin gene in thyroid follicular cells affects gland development but does not impair junction formation. Endocrinology (2007) 0.87
Genetic influences on alexithymia and their relationship with depressive symptoms. J Psychosom Res (2011) 0.86
Women with endometriosis at first pregnancy have an increased risk of adverse obstetric outcome. J Matern Fetal Neonatal Med (2014) 0.86
Interaction of alcohol intake and cofactors on the risk of cirrhosis. Liver Int (2010) 0.86
Multiple sclerosis in twins from continental Italy and Sardinia: a nationwide study. Ann Neurol (2006) 0.86
An association analysis of microsatellite markers across the Prader-Willi/Angelman critical region on chromosome 15 (q11-13) and autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet (2005) 0.85
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors. Cancer Genet Cytogenet (2006) 0.84
Genetic and environmental factors shape infant sleep patterns: a study of 18-month-old twins. Pediatrics (2011) 0.84
Association between heterozygosity for HFE gene mutations and hepatitis viruses in hepatocellular carcinoma. Blood Cells Mol Dis (2005) 0.84
Genetic and environmental influences on anxiety dimensions in Italian twins evaluated with the SCARED questionnaire. J Anxiety Disord (2005) 0.83
Congenital hypothyroidism due to defects of thyroid development and mild increase of TSH at screening: data from the Italian National Registry of infants with congenital hypothyroidism. J Clin Endocrinol Metab (2013) 0.83
Association of body mass index with arterial stiffness and blood pressure components: a twin study. Atherosclerosis (2013) 0.83
A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid. Endocrinology (2010) 0.83
Prevalence of self-perceived allergic diseases and risk factors in Italian adolescents. Pediatr Allergy Immunol (2008) 0.83
Concentration of elements in serum of patients affected by multiple sclerosis with first demyelinating episode: a six-month longitudinal follow-up study. Ann Ist Super Sanita (2005) 0.83
Absent end diastolic flow in umbilical artery and umbilical cord thrombosis at term of pregnancy. Med Sci Monit (2003) 0.82
Are gestational and essential hypertension similar? Left ventricular geometry and diastolic function. Hypertens Pregnancy (2003) 0.82
Could birthweight prediction models be improved by adding fetal subcutaneous tissue thickness? J Obstet Gynaecol Res (2008) 0.82
A physiological mechanism to regulate D-aspartic acid and NMDA levels in mammals revealed by D-aspartate oxidase deficient mice. Gene (2006) 0.82
Comparative genomics reveals a functional thyroid-specific element in the far upstream region of the PAX8 gene. BMC Genomics (2010) 0.81
Development of diabetic nephropathy in the Milan normotensive strain, but not in the Milan hypertensive strain: possible permissive role of hemodynamics. Kidney Int (2005) 0.81
Total vascular resistance and left ventricular morphology as screening tools for complications in pregnancy. Hypertension (2008) 0.81
Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy. Circ Cardiovasc Genet (2012) 0.81
A twin study of attachment style in young adults. J Pers (2011) 0.81
HLA-E gene polymorphism associates with ankylosing spondylitis in Sardinia. Arthritis Res Ther (2009) 0.81
Ultrasound-determined fetal subcutaneous tissue thickness for a birthweight prediction model. J Obstet Gynaecol Res (2007) 0.81
Evidence for a strong genetic influence on carotid plaque characteristics: an international twin study. Stroke (2012) 0.81
DNA damage response in monozygotic twins discordant for smoking habits. Mutagenesis (2012) 0.80
The role of genes and environment in shaping co-occurrence of DSM-IV defined anxiety dimensions among Italian twins aged 8-17. J Anxiety Disord (2010) 0.80
Cross-species toxicogenomic analyses and phenotypic anchoring in response to groundwater low-level pollution. BMC Genomics (2014) 0.80
The TYMS-TSER polymorphism is associated with toxicity of low-dose capecitabine in patients with advanced gastrointestinal cancer. Anticancer Drugs (2016) 0.79
Novel pancreas organogenesis markers refine the pancreatic differentiation roadmap of embryonic stem cells. Stem Cell Rev (2014) 0.79
An essential role for Pax8 in the transcriptional regulation of cadherin-16 in thyroid cells. Mol Endocrinol (2011) 0.79
IL12B polymorphism and type 1 diabetes in the Italian population: a case-control study. Diabetes (2002) 0.79
Biosorption of protons and heavy metals onto olive pomace: modelling of competition effects. Water Res (2005) 0.79