Claude Férec


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Person Info

NAME

Claude

SURNAME

Férec

Publications in SciGraph latest 50 shown

  • 2019-01-25 Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies in GENETICS IN MEDICINE
  • 2018-12 Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly in HUMAN GENOMICS
  • 2018-12 Novel long-range regulatory mechanisms controlling PKD2 gene expression in BMC GENOMICS
  • 2018-12 Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-12 Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study in BMC PREGNANCY AND CHILDBIRTH
  • 2017-12 Analysis of the R1b-DF27 haplogroup shows that a large fraction of Iberian Y-chromosome lineages originated recently in situ in SCIENTIFIC REPORTS
  • 2017-12 In silico prioritization and further functional characterization of SPINK1 intronic variants in HUMAN GENOMICS
  • 2017-08 Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability? in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017 Pathogenetics of Chronic Pancreatitis in CHRONIC PANCREATITIS
  • 2016-12 Mutational status of synchronous and metachronous tumor samples in patients with metastatic non-small-cell lung cancer in BMC CANCER
  • 2016-09 Function and regulation of TRPM7, as well as intracellular magnesium content, are altered in cells expressing ΔF508-CFTR and G551D-CFTR in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 2016-03 New clues to the evolutionary history of the main European paternal lineage M269: dissection of the Y-SNP S116 in Atlantic Europe and Iberia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-10 Small-scale high-throughput sequencing–based identification of new therapeutic tools in cystic fibrosis in GENETICS IN MEDICINE
  • 2015-07 HFE hemochromatosis: influence of dietary iron intake on the iron overload of C282Y homozygous patients in ANNALS OF HEMATOLOGY
  • 2015-06 Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions in HUMAN GENETICS
  • 2015-05 A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis in NATURE GENETICS
  • 2015-02 Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy in GENETICS IN MEDICINE
  • 2015 Molecular RHD-RHCE Analysis by Multiplex PCR of Short Fluorescent Fragments in MOLECULAR TYPING OF BLOOD CELL ANTIGENS
  • 2013-12 Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-10 Variants in CPA1 are strongly associated with early onset chronic pancreatitis in NATURE GENETICS
  • 2012-12 Local sequence determinants of two in-frame triplet deletion/duplication hotspots in the RHD/RHCEgenes in HUMAN GENOMICS
  • 2012-12 Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-09 Identification of a novel population in high-grade oligodendroglial tumors not deleted on 1p/19q using array CGH in JOURNAL OF NEURO-ONCOLOGY
  • 2011-10 Assessing the pathological relevance of SPINK1 promoter variants in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-12 Distinct clonal anomalies involving RUNX1 in acute myeloid leukemia at diagnosis and after bone marrow transplantation in ANNALS OF HEMATOLOGY
  • 2010-09 Factors influencing disease phenotype and penetrance in HFE haemochromatosis in HUMAN GENETICS
  • 2010-03 Genetics of osteoporosis: accelerating pace in gene identification and validation in HUMAN GENETICS
  • 2009-08 A complex 1;19;11 translocation involving the MLL gene in a patient with congenital acute monoblastic leukemia identified by molecular and cytogenetic techniques in ANNALS OF HEMATOLOGY
  • 2009-01 Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2008-10 Serum Transferrin Saturation Increase Is Associated With Decrease of Antibacterial Activity of Serum in Patients With HFE-Related Genetic Hemochromatosis in THE AMERICAN JOURNAL OF GASTROENTEROLOGY
  • 2008-06 Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation in HUMAN GENETICS
  • 2008-02 Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis in HUMAN GENETICS
  • 2008-01 Risk of Pancreatic Adenocarcinoma in Patients With Hereditary Pancreatitis: A National Exhaustive Series in THE AMERICAN JOURNAL OF GASTROENTEROLOGY
  • 2007-10 Gene conversion: mechanisms, evolution and human disease in NATURE REVIEWS GENETICS
  • 2007-09 Mechanism of Alu integration into the human genome in THE HUGO JOURNAL
  • 2007-09 Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007-09 Searching for potential microRNA-binding site mutations amongst known disease-associated 3′ UTR variants in THE HUGO JOURNAL
  • 2007-08 Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2006-12 Hereditary pancreatitis caused by triplication of the trypsinogen locus in NATURE GENETICS
  • 2006-11 Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-10 A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3′ UTR variants in HUMAN GENETICS
  • 2006-08 A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview in HUMAN GENETICS
  • 2006-05 Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-01 Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2005-12 Impact of HFEgenetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data in BMC MEDICAL GENETICS
  • 2005-11 The molecular genetics of haemochromatosis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2005-09 Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations. in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 2005-09 A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease in HUMAN GENETICS
  • 2005-09 The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein in HUMAN GENETICS
  • 2005-02 A large-scale study of the random variability of a coding sequence: a study on the CFTR gene in EUROPEAN JOURNAL OF HUMAN GENETICS
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