Published in Am J Med Genet on September 01, 2002
Genetic mechanisms and modifying factors in hereditary hemochromatosis. Nat Rev Gastroenterol Hepatol (2009) 1.10
The origin and spread of the HFE-C282Y haemochromatosis mutation. Hum Genet (2004) 1.09
Genetic and epigenetic contributions to human nutrition and health: managing genome-diet interactions. J Am Diet Assoc (2008) 0.83
Response to Moirand et al.-"HFE based re-evaluation of heterozygous hemochromatosis". Am J Med Genet A (2004) 0.77
The hereditary hyperferritinemia-cataract syndrome in 2 italian families. Case Rep Pediatr (2013) 0.75
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet (2003) 5.82
Triple therapy in treatment-experienced patients with HCV-cirrhosis in a multicentre cohort of the French Early Access Programme (ANRS CO20-CUPIC) - NCT01514890. J Hepatol (2013) 5.64
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry (2009) 2.82
A comparison of fibrosis progression in chronic liver diseases. J Hepatol (2003) 2.82
Holoprosencephaly. Orphanet J Rare Dis (2007) 2.63
C/EBPalpha regulates hepatic transcription of hepcidin, an antimicrobial peptide and regulator of iron metabolism. Cross-talk between C/EBP pathway and iron metabolism. J Biol Chem (2002) 2.16
Phenotypic expression in detected C282Y homozygous women depends on body mass index. J Hepatol (2005) 2.15
Fibrillar collagen scoring by second harmonic microscopy: a new tool in the assessment of liver fibrosis. J Hepatol (2010) 1.88
Adjuvant intra-arterial injection of iodine-131-labeled lipiodol after resection of hepatocellular carcinoma. Hepatology (2003) 1.65
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathol (2008) 1.64
Instant diagnosis of spontaneous bacterial peritonitis using leukocyte esterase reagent strips: Nephur-Test vs. MultistixSG. Liver Int (2005) 1.61
Comparative analysis of mouse hepcidin 1 and 2 genes: evidence for different patterns of expression and co-inducibility during iron overload. FEBS Lett (2003) 1.58
Liver iron is a surrogate marker of severe fibrosis in chronic hepatitis C. J Hepatol (2006) 1.58
Prediction of liver fibrosis in patients with features of the metabolic syndrome regardless of alcohol consumption. Hepatology (2004) 1.58
Danoprevir, an HCV NS3/4A protease inhibitor, improves insulin sensitivity in patients with genotype 1 chronic hepatitis C. Gut (2010) 1.55
Comparison of liver fibrosis blood tests developed for HCV with new specific tests in HIV/HCV co-infection. J Hepatol (2010) 1.51
Improvement in liver pathology of patients with β-thalassemia treated with deferasirox for at least 3 years. Gastroenterology (2011) 1.51
Treatment of chronic hepatitis C patients with the NS3/4A protease inhibitor danoprevir (ITMN-191/RG7227) leads to robust reductions in viral RNA: a phase 1b multiple ascending dose study. J Hepatol (2011) 1.47
Plasma palmitoleic acid, a product of stearoyl-coA desaturase activity, is an independent marker of triglyceridemia and abdominal adiposity. Nutr Metab Cardiovasc Dis (2008) 1.46
Liver transplantation normalizes serum hepcidin level and cures iron metabolism alterations in HFE hemochromatosis. Hepatology (2014) 1.43
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. Hum Mutat (2004) 1.41
Hepcidin levels in humans are correlated with hepatic iron stores, hemoglobin levels, and hepatic function. Blood (2005) 1.38
A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis. Haematologica (2009) 1.35
Comparison of nine blood tests and transient elastography for liver fibrosis in chronic hepatitis C: the ANRS HCEP-23 study. J Hepatol (2011) 1.29
Strain and gender modulate hepatic hepcidin 1 and 2 mRNA expression in mice. Blood Cells Mol Dis (2004) 1.25
Inactivation of the hemochromatosis gene differentially regulates duodenal expression of iron-related mRNAs between mouse strains. Gastroenterology (2002) 1.23
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Semin Med Genet (2010) 1.23
Comparison of blood tests for liver fibrosis specific or not to NAFLD. J Hepatol (2008) 1.21
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. Eur J Med Genet (2010) 1.21
Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress. Eur J Med Genet (2008) 1.19
Reversibility of hepatic fibrosis in treated genetic hemochromatosis: a study of 36 cases. Hepatology (2006) 1.18
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly. J Biol Chem (2004) 1.16
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. Hum Genet (2005) 1.14
Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: a study of 9396 French people. Br J Haematol (2002) 1.10
Noninvasive prediction of cirrhosis in C282Y-linked hemochromatosis. Hepatology (2002) 1.10
Phenotypic and molecular variability of the holoprosencephalic spectrum. Am J Med Genet A (2004) 1.09
Current approach to hemochromatosis. Blood Rev (2008) 1.07
Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. Am J Hum Genet (2007) 1.07
Indication of liver transplantation in severe alcoholic liver cirrhosis: quantitative evaluation and optimal timing. J Hepatol (2002) 1.04
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. J Med Genet (2011) 1.04
Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights. J Hepatol (2002) 1.04
Treatment of hepatocellular carcinoma (HCC) with systemic chemotherapy combining epirubicin, cisplatinum and infusional 5-fluorouracil (ECF regimen). Cancer Chemother Pharmacol (2002) 1.03
Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet (2002) 1.02
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series. Eur J Med Genet (2009) 1.02
Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. J Hepatol (2003) 1.00
The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities. Am J Gastroenterol (2005) 1.00
Redox active plasma iron in C282Y/C282Y hemochromatosis. Blood (2005) 0.99
NOTCH, a new signaling pathway implicated in holoprosencephaly. Hum Mol Genet (2010) 0.98
Natural and synthetic STAT3 inhibitors reduce hepcidin expression in differentiated mouse hepatocytes expressing the active phosphorylated STAT3 form. J Mol Med (Berl) (2010) 0.98
Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD. J Clin Endocrinol Metab (2006) 0.97
A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload. Haematologica (2009) 0.96
Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother. Eur J Med Genet (2006) 0.96
Assessment of hepatic steatosis: comparison of quantitative and semiquantitative methods in 108 liver biopsies. Liver Int (2008) 0.95
A robust collagen scoring method for human liver fibrosis by second harmonic microscopy. Opt Express (2010) 0.93
Hepcidin in iron metabolism. Curr Protein Pept Sci (2005) 0.93
Anemia in beta-thalassemia patients targets hepatic hepcidin transcript levels independently of iron metabolism genes controlling hepcidin expression. Haematologica (2008) 0.93
Clinical Consequences of New Insights in the Pathophysiology of Disorders of Iron and Heme Metabolism. Hematology Am Soc Hematol Educ Program (2000) 0.92
Iron absorption in dysmetabolic iron overload syndrome is decreased and correlates with increased plasma hepcidin. J Hepatol (2009) 0.92
The new orally active iron chelator ICL670A exhibits a higher antiproliferative effect in human hepatocyte cultures than O-trensox. Eur J Pharmacol (2006) 0.91
Effects of deferasirox and deferiprone on cellular iron load in the human hepatoma cell line HepaRG. Biometals (2009) 0.90
MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly. Hum Mutat (2007) 0.89
Sex and acquired cofactors determine phenotypes of ferroportin disease. Gastroenterology (2011) 0.88
Evaluation of ETF1/eRF1, mapping to 5q31, as a candidate myeloid tumor suppressor gene. Cancer Genet Cytogenet (2002) 0.88
A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis. Hepatology (2010) 0.88
Holoprosencephaly: An update on cytogenetic abnormalities. Am J Med Genet C Semin Med Genet (2010) 0.87
Diagnosis of different liver fibrosis characteristics by blood tests in non-alcoholic fatty liver disease. Liver Int (2010) 0.87
Increased body iron stores in elite road cyclists. Med Sci Sports Exerc (2002) 0.86
5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects. Am J Med Genet A (2011) 0.86
Antiviral activity of danoprevir (ITMN-191/RG7227) in combination with pegylated interferon α-2a and ribavirin in patients with hepatitis C. J Infect Dis (2011) 0.85
Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci. Orphanet J Rare Dis (2011) 0.85
A nomogram to predict C282Y hemochromatosis. J Lab Clin Med (2002) 0.85
Effect of alcohol consumption on liver stiffness measured by transient elastography. World J Gastroenterol (2013) 0.85
A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: a follow-up study. Blood Cells Mol Dis (2009) 0.83
Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics. Dis Colon Rectum (2007) 0.83
Miscellaneous non-inflammatory musculoskeletal conditions. Haemochromatosis: the bone and the joint. Best Pract Res Clin Rheumatol (2011) 0.83
GATA-4 transcription factor regulates hepatic hepcidin expression. Biochem J (2011) 0.83
Iron overload promotes Cyclin D1 expression and alters cell cycle in mouse hepatocytes. J Hepatol (2005) 0.82
Early effects of erythropoietin on serum hepcidin and serum iron bioavailability in healthy volunteers. Eur J Appl Physiol (2011) 0.82