Published in J Hepatol on June 28, 2005
Hepcidin and iron homeostasis. Biochim Biophys Acta (2012) 2.96
Hepcidin-induced endocytosis of ferroportin is dependent on ferroportin ubiquitination. Cell Metab (2012) 1.42
Effect of correcting transferrin saturation for body mass index in HFE C282Y homozygotes. J Hepatol (2005) 1.08
What are genes "for" or where are traits "from"? What is the question? Bioessays (2009) 0.94
Revaluation of clinical and histological criteria for diagnosis of dysmetabolic iron overload syndrome. World J Gastroenterol (2008) 0.90
Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS study initial screening. Am J Hematol (2008) 0.88
Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2. Haematologica (2009) 0.86
Transferrin saturation should not be corrected for body mass index in screening studies for haemochromatosis. J Hepatol (2006) 0.76
Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver. Blood (2008) 3.71
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry (2009) 2.82
Holoprosencephaly. Orphanet J Rare Dis (2007) 2.63
DNA methylation in glioblastoma: impact on gene expression and clinical outcome. BMC Genomics (2010) 2.32
Simultaneous analysis of distinct Omics data sets with integration of biological knowledge: Multiple Factor Analysis approach. BMC Genomics (2009) 1.68
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathol (2008) 1.64
The CONSTANCES cohort: an open epidemiological laboratory. BMC Public Health (2010) 1.60
Prediction of liver fibrosis in patients with features of the metabolic syndrome regardless of alcohol consumption. Hepatology (2004) 1.58
Liver iron is a surrogate marker of severe fibrosis in chronic hepatitis C. J Hepatol (2006) 1.58
HFE based re-evaluation of heterozygous hemochromatosis. Am J Med Genet (2002) 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
Analysis of a French cohort of patients with large granular lymphocyte leukemia: a report on 229 cases. Haematologica (2010) 1.44
Orchestrated transcription of biological processes in the marine picoeukaryote Ostreococcus exposed to light/dark cycles. BMC Genomics (2010) 1.42
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
CD9 expression can be used to predict childhood TEL/AML1-positive acute lymphoblastic leukemia: proposal for an accelerated diagnostic flowchart. Leuk Res (2009) 1.40
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
Integrative genome-wide analysis reveals a robust genomic glioblastoma signature associated with copy number driving changes in gene expression. Genes Chromosomes Cancer (2009) 1.30
A transversal approach to predict gene product networks from ontology-based similarity. BMC Bioinformatics (2007) 1.29
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
Light-dependent regulation of cell division in Ostreococcus: evidence for a major transcriptional input. Plant Physiol (2007) 1.17
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly. J Biol Chem (2004) 1.16
Combinations of cytochrome P450 gene polymorphisms enhancing the risk for sporadic colorectal cancer related to red meat consumption. Cancer Epidemiol Biomarkers Prev (2007) 1.16
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. Hum Genet (2005) 1.14
Combination of polymorphisms from genes related to estrogen metabolism and risk of prostate cancers: the hidden face of estrogens. J Clin Oncol (2007) 1.11
Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: a study of 9396 French people. Br J Haematol (2002) 1.10
Long-term mortality and quality of life after septic shock: a follow-up observational study. Intensive Care Med (2013) 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
Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study. BMC Cancer (2008) 1.08
Differential analysis of glioblastoma multiforme proteome by a 2D-DIGE approach. Proteome Sci (2011) 1.08
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
Association between estrogen and androgen receptor genes and prostate cancer risk. Eur J Endocrinol (2008) 1.06
Overview of cellular immunotherapy for patients with glioblastoma. Clin Dev Immunol (2010) 1.05
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
Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet (2002) 1.02
Human glioblastoma stem-like cells are more sensitive to allogeneic NK and T cell-mediated killing compared with serum-cultured glioblastoma cells. Brain Pathol (2011) 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
Distinct effects of human glioblastoma immunoregulatory molecules programmed cell death ligand-1 (PDL-1) and indoleamine 2,3-dioxygenase (IDO) on tumour-specific T cell functions. J Neuroimmunol (2010) 1.01
Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. J Hepatol (2003) 1.00
A 4-gene signature associated with clinical outcome in high-grade gliomas. Clin Cancer Res (2011) 0.99
Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci. Hum Mutat (2009) 0.99
Redox active plasma iron in C282Y/C282Y hemochromatosis. Blood (2005) 0.99
Combining evidence, biomedical literature and statistical dependence: new insights for functional annotation of gene sets. BMC Bioinformatics (2006) 0.98
NOTCH, a new signaling pathway implicated in holoprosencephaly. Hum Mol Genet (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
Microarray analysis of differential gene expression in the liver of lean and fat chickens. Gene (2006) 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
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
Assessment of hepatic steatosis: comparison of quantitative and semiquantitative methods in 108 liver biopsies. Liver Int (2008) 0.95
Five distinct biological processes and 14 differentially expressed genes characterize TEL/AML1-positive leukemia. BMC Genomics (2007) 0.95
NOD2/CARD15 gene polymorphisms in Crohn's disease: a genotype- phenotype analysis. Eur J Gastroenterol Hepatol (2004) 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
Relative validity and reproducibility of a 14-item semi-quantitative food frequency questionnaire for cardiovascular prevention. Eur J Cardiovasc Prev Rehabil (2005) 0.90
MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly. Hum Mutat (2007) 0.89
Isolation of a new cell population in the glioblastoma microenvironment. J Neurooncol (2011) 0.88
Outcome-based determination of optimal pyrosequencing assay for MGMT methylation detection in glioblastoma patients. J Neurooncol (2014) 0.88
Sex and acquired cofactors determine phenotypes of ferroportin disease. Gastroenterology (2011) 0.88
Immune genes are associated with human glioblastoma pathology and patient survival. BMC Med Genomics (2012) 0.87
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
Transcriptome variations in human CaCo-2 cells: a model for enterocyte differentiation and its link to iron absorption. Genomics (2004) 0.86
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
A method exploiting syntactic patterns and the UMLS semantics for aligning biomedical ontologies: the case of OBO disease ontologies. Int J Med Inform (2007) 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
Determination of capillary hemoglobin levels using the HemoCue system in intensive care patients. J Crit Care (2010) 0.85
A nomogram to predict C282Y hemochromatosis. J Lab Clin Med (2002) 0.85
Mechanisms of immunomodulation in human glioblastoma. Immunotherapy (2011) 0.84
The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers. Genet Test (2007) 0.84
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
Grading glioma tumors using OWL-DL and NCI Thesaurus. AMIA Annu Symp Proc (2007) 0.83
Integrating biological pathways in disease ontologies. Stud Health Technol Inform (2007) 0.83
Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics. Dis Colon Rectum (2007) 0.83
Early effects of erythropoietin on serum hepcidin and serum iron bioavailability in healthy volunteers. Eur J Appl Physiol (2011) 0.82
Aligning biomedical ontologies using lexical methods and the UMLS: the case of disease ontologies. Stud Health Technol Inform (2006) 0.82