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Claude Férec

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Sylvia Quéméner-Redon; Séverine Audebert-Bellanger; Caroline Bénech; Gaëlle Friocourt; Philippe Parent; Marc Planes; Claude Férec
A small de novo 16q24.1 duplication in a woman with severe clinical features.
Emmanuel Mornet; Thierry Benvegnu; Nathalie Carmoy; Claude Férec; Céline Lainé; Isabelle Laurent; Tony Le Gall; Pierre Lehn; Loïc Lemiègre; Rémi Marianowski; Tristan Montier
Folate-equipped nanolipoplexes mediated efficient gene transfer into human epithelial cells.
Jian-Min Chen; David N Cooper; Isabelle Dupont; Yann Fichou; Déborah Jamet; Cédric Le Maréchal; Claude Férec
Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanisms.

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2013: Sylvia Quéméner-Redon; Séverine Audebert-Bellanger; Caroline Bénech; Gaëlle Friocourt; Philippe Parent; Marc Planes; Claude Férec
A small de novo 16q24.1 duplication in a woman with severe clinical features.
European journal of medical genetics 2013;56(4):211-5.
2013: Emmanuel Mornet; Thierry Benvegnu; Nathalie Carmoy; Claude Férec; Céline Lainé; Isabelle Laurent; Tony Le Gall; Pierre Lehn; Loïc Lemiègre; Rémi Marianowski; Tristan Montier
Folate-equipped nanolipoplexes mediated efficient gene transfer into human epithelial cells.
International journal of molecular sciences 2013;14(1):1477-501.
2013: Jian-Min Chen; David N Cooper; Isabelle Dupont; Yann Fichou; Déborah Jamet; Cédric Le Maréchal; Claude Férec
Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanisms.
Transfusion 2013;53(1):206-10.
2012: Yann Fichou; Déborah Jamet; Cédric Le Maréchal; Marie-Jeanne Loirat; Pascal Bailly; Jian-Min Chen; Claude Chuteau; Isabelle Dupont; Cécile Durousseau; Claude Férec
Weak D caused by a founder deletion in the RHD gene.
Transfusion 2012;52(11):2348-55.
2012: Matthieu Talagas; Arnaud Uguen; Sebastian Costa; Claude Férec; Phong Dam Hieu; Pascale Marcorelles; Frédéric Morel; Isabelle Quintin-Roué; Sylvia Redon; Marc de Braekeleer
Identification of a novel population in high-grade oligodendroglial tumors not deleted on 1p/19q using array CGH.
Journal of neuro-oncology 2012;109(2):405-13.
2012: Jian-Min Chen; Claude Férec
Genetics and pathogenesis of chronic pancreatitis: the 2012 update.
Clinics and research in hepatology and gastroenterology 2012;36(4):334-40.
2012: Marie-Pierre Audrézet; Caroline Bénech; Jian-Min Chen; Emilie Cornec-Le Gall; Joelle Creff; Yann Le Meur; Sandrine Maestri; Isabelle Quéré; Sylvia Redon; Claude Férec
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
Human mutation 2012;33(8):1239-50.
2012: Pascal Trouvé; Nathalie Benz; Mathieu Kerbiriou; Sophie le Hir; Claude Férec
Surface plasmon resonance shows a gender difference in circulating annexin A5 in human.
Talanta 2012;93():219-23.
2012: Claude Férec; V Scotet; J Beucher; Harriet Corvol
[Genetics and modifier genes, atypical and rare forms].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2012;19 Suppl 1():S3-7.
2012: Yann Fichou; Christine Guerry; Déborah Jamet; Cédric Le Maréchal; Caroline Bénech; Laurence Bryckaert; Isabelle Dupont; Claude Férec; Jian-Min Chen
Variant screening of the RHD gene in a large cohort of subjects with D phenotype ambiguity: report of 17 novel rare alleles.
Transfusion 2012;52(4):759-64.
2012: Arnaud Boulling; Jian-Min Chen; Steven Keiles; Emmanuelle Masson; Claude Férec
Functional analysis of eight missense mutations in the SPINK1 gene.
Pancreas 2012;41(2):329-30.
2012: Jian-Min Chen; David N Cooper; Claude Férec
Local sequence determinants of two in-frame triplet deletion/duplication hotspots in the RHD/RHCE genes.
Human genomics 2012;6():8.
2012: Ling Teng; Pascal Trouvé; Nathalie Benz; Mathieu Kerbiriou; Sophie Le Hir; Olivier Mignen; Mehdi Taiya; Claude Férec
Proteomic identification of calumenin as a G551D-CFTR associated protein.
PloS one 2012;7(6):e40173.
2012: Virginie Scotet; Marie-Pierre Audrézet; Ingrid Duguépéroux; Gilles Rault; Michel Roussey; Philippe Saliou; Claude Férec
Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France.
Orphanet journal of rare diseases 2012;7():14.
2012: Jian-Min Chen; Claude Férec; David N Cooper
Transient hypermutability, chromothripsis and replication-based mechanisms in the generation of concurrent clustered mutations.
Mutation research 2012;750(1):52-9.
2012: Ingrid Duguépéroux; Marie-Pierre Audrézet; Martine Blayau; Michel Collet; Fleur Fresquet; Alain Kitzis; Françoise Müller; Anne-Hélène Saliou; Sébastien Schmitt; Virginie Scotet; Claude Férec
Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis.
Prenatal diagnosis 2012;32(1):21-8.
2011: Etienne De Braekeleer; Audrey Basinko; Christian Berthou; Nathalie Douet-Guilbert; Claude Férec; Marie-Josée Le Bris; Rolf Marschalek; Claus Meyer; Frédéric Morel; Marc de Braekeleer
Identification of MLL partner genes in 27 patients with acute leukemia from a single cytogenetic laboratory.
Molecular oncology 2011;5(6):555-63.
2011: David N Cooper; Claude Férec; Hildegard Kehrer-Sawatzki; Karen M Vasquez; Albino Bacolla; Jian-Min Chen
On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.
Human mutation 2011;32(10):1075-99.
2011: Arnaud Boulling; Giriraj R Chandak; Jian-Min Chen; David N Cooper; Emmanuelle Masson; Sumit Paliwal; D Nageshwar Reddy; Heiko Witt; Seema Bhaskar; Claude Férec
Assessing the pathological relevance of SPINK1 promoter variants.
European journal of human genetics : EJHG 2011;19(10):1066-73.
2011: Bernhard Steiner; Niels Teich; Heiko Witt; Matthias Löhr; Marie-Pierre Audrezet; Teresa Casals; Mireille Claustres; Marie Des Georges; Marie-Claire Desax; Antoni Farre; Claude Férec; Sabina Gallati; Macarena Gomez-Lira; Thomas M Gress; Volker Keim; Monika Koudova; Olfert Landt; Matthias Lühr; Milan Macek Jr.; Renate Nickel; Roland Pfützer; Jonas Rosendahl; Hans-Ulrich Schulz; Kaspar Truninger
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
Human mutation 2011;32(8):912-20.
2011: Jian-Min Chen; David N Cooper; Claude Férec
Local DNA sequence determinants of FUT2 copy number variation.
Transfusion 2011;51(6):1359-61.
2011: Etienne De Braekeleer; Nathalie Douet-Guilbert; David Rowe; Nick Bown; Frédéric Morel; Christian Berthou; Claude Férec; Marc de Braekeleer
ABL1 fusion genes in hematological malignancies: a review.
European journal of haematology 2011;86(5):361-71.
2011: Yizhen Yang; Claude Férec; Catherine Mura
SNP and haplotype analysis reveals new HFE variants associated with iron overload trait.
Human mutation 2011;32(4):E2104-17.
2011: Marie-Lise Quillé; Daniel Baron; Caroline Benech; Solenne Carat; Claude Férec; Jeanne Guihot; Edouard Hirchaud; Rémi Houlgatte; Olivier Mignen; Morgane Placet; Sylvia Quéméner-Redon; Gaëlle Friocourt
High-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathies.
PloS one 2011;6(9):e25181.
2011: Etienne De Braekeleer; Nathalie Douet-Guilbert; Audrey Basinko; Frédéric Morel; Marie-Josée Le Bris; Claude Férec; Marc de Braekeleer
Using bacterial artificial chromosomes in leukemia research: the experience at the university cytogenetics laboratory in Brest, France.
Journal of biomedicine & biotechnology 2011;2011():329471.
2011: Etienne De Braekeleer; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Claude Férec; Marc de Braekeleer
RUNX1 translocations and fusion genes in malignant hemopathies.
Future oncology (London, England) 2011;7(1):77-91.
2010: Virginie Scotet; Ingrid Duguépéroux; Marie-Pierre Audrézet; Séverine Audebert-Bellanger; Matthieu Muller; Martine Blayau; Claude Férec
Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France.
American journal of obstetrics and gynecology 2010;203(6):592.e1-6.
2010: Etienne De Braekeleer; Nathalie Douet-Guilbert; Audrey Basinko; Marie-Josée Le Bris; Frédéric Morel; Christian Berthou; Claude Férec; Marc de Braekeleer
Distinct clonal anomalies involving RUNX1 in acute myeloid leukemia at diagnosis and after bone marrow transplantation.
Annals of hematology 2010;89(12):1277-81.
2010: Sandrine Jacolot; Yizhen Yang; Pierrick Paitry; Claude Férec; GIANNI MURA
Iron metabolism in macrophages from HFE hemochromatosis patients.
Molecular genetics and metabolism 2010;101(2-3):258-67.
2010: J M Chen; Claude Férec; D N Cooper
Revealing the human mutome.
Clinical genetics 2010;78(4):310-20.
2010: Etienne De Braekeleer; Claus Meyer; Marie-Josée Le Bris; Nathalie Douet-Guilbert; Audrey Basinko; Frédéric Morel; Christian Berthou; Rolf Marschalek; Claude Férec; Marc de Braekeleer
Identification of a MLL-MLLT4 fusion gene resulting from a t(6;11)(q27;q23) presenting as a del(11q) in a child with T-cell acute lymphoblastic leukemia.
Leukemia & lymphoma 2010;51(8):1570-3.
2010: Jian-Min Chen; David N Cooper; Claude Férec; Hildegard Kehrer-Sawatzki; George P Patrinos
Genomic rearrangements in inherited disease and cancer.
Seminars in cancer biology 2010;20(4):222-33.
2010: Etienne De Braekeleer; Audrey Basinko; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Christian Berthou; Patrick Morice; Claude Férec; Marc de Braekeleer
Cytogenetics in pre-B and B-cell acute lymphoblastic leukemia: a study of 208 patients diagnosed between 1981 and 2008.
Cancer genetics and cytogenetics 2010;200(1):8-15.
2010: Etienne De Braekeleer; Claus Meyer; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Christian Berthou; Bertrand Arnaud; Rolf Marschalek; Claude Férec; Marc de Braekeleer
Complex and cryptic chromosomal rearrangements involving the MLL gene in acute leukemia: a study of 7 patients and review of the literature.
Blood cells, molecules & diseases 2010;44(4):268-74.
2010: Emmanuelle Masson; Sumit Paliwal; Seema Bhaskar; Soami Prakash; Virginie Scotet; D Nageshwar Reddy; Cédric Le Maréchal; Giriraj Ratan Chandak; Jian-Min Chen; Claude Férec
Genetic analysis of the glycoprotein 2 gene in patients with chronic pancreatitis.
Pancreas 2010;39(3):353-8.
2010: Sylvia Quemener; Jian-Min Chen; Nadia Chuzhanova; Caroline Bénech; Teresa Casals; Milan Macek Jr.; Thierry Bienvenu; Trudi McDevitt; Philip M Farrell; Ourida Loumi; Taieb Messaoud; Harry Cuppens; Garry R Cutting; Peter D Stenson; Karine Giteau; Marie-Pierre Audrézet; David N Cooper; Claude Férec
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
Human mutation 2010;31(4):421-8.
2010: Gérald Le Gac; Rita Congiu; Isabelle Gourlaouen; Milena Cau; Claude Férec; Maria Antonietta Melis
Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia.
Haematologica 2010;95(4):685-7.
2010: Wen-Feng Li; Shu-Xun Hou; Bin Yu; Meng-Meng Li; Claude Férec; Jian-Min Chen
Genetics of osteoporosis: accelerating pace in gene identification and validation.
Human genetics 2010;127(3):249-85.
2010: Arnaud Boulling; Gérald Le Gac; Gwendal Dujardin; Jian-Min Chen; Claude Férec
The c.1275A>G putative chronic pancreatitis-associated synonymous polymorphism in the glycoprotein 2 (GP2) gene decreases exon 9 inclusion.
Molecular genetics and metabolism 2010;99(3):319-24.
2010: Etienne De Braekeleer; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Audrey Basinko; Christian Berthou; Patrick Morice; Claude Férec; Marc de Braekeleer
Philadelphia chromosome-positive acute lymphoblastic leukemia: a cytogenetic study of 33 patients diagnosed between 1981 and 2008.
Anticancer research 2010;30(2):569-73.
2010: Etienne De Braekeleer; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Christian Berthou; Claude Férec; Marc de Braekeleer
RUNX1 amplification in B-cell acute lymphoblastic leukemia.
Leukemia & lymphoma 2010;51(2):329-32.
2010: Jacqueline Milet; Gérald Le Gac; Virginie Scotet; Isabelle Gourlaouen; Corine Thèze; Jean Mosser; Catherine Bourgain; Yves Deugnier; Claude Férec
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, molecules & diseases 2010;44(1):34-7.
2010: Aimee C Walsh; Gilles Rault; Zhanhai Li; Virginie Scotet; Ingrid Duguépéroux; Claude Férec; Michel Roussey; Anita Laxova; Philip M Farrell
Pulmonary outcome differences in U.S. and French cystic fibrosis cohorts diagnosed through newborn screening.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2010;9(1):44-50.
2009: Emilie Létocart; Gérald Le Gac; Silvia Majore; Chandran Ka; Francesca C Radio; Isabelle Gourlaouen; Carmelilia De Bernardo; Claude Férec; Paola Grammatico
A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.
British journal of haematology 2009;147(3):379-85.
2009: Jian-Min Chen; Claude Férec; David N Cooper
Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes.
Human mutation 2009;30(10):1435-48.
2009: Angélique Chauvin; Jian-Min Chen; Sylvia Quemener; Emmanuelle Masson; Hildegard Kehrer-Sawatzki; Barbara Ohmle; David N Cooper; Cédric Le Maréchal; Claude Férec
Elucidation of the complex structure and origin of the human trypsinogen locus triplication.
Human molecular genetics 2009;18(19):3605-14.
2009: Etienne De Braekeleer; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Claus Meyer; Rolf Marschalek; Claude Férec; Marc de Braekeleer
FLNA, a new partner gene fused to MLL in a patient with acute myelomonoblastic leukaemia.
British journal of haematology 2009;146(6):693-5.
2009: Nadia Chuzhanova; Jian-Min Chen; Albino Bacolla; George P Patrinos; Claude Férec; Robert D Wells; David N Cooper
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.
Human mutation 2009;30(8):1189-98.
2009: Etienne De Braekeleer; Claus Meyer; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Rolf Marschalek; Claude Férec; Marc de Braekeleer
A complex 1;19;11 translocation involving the MLL gene in a patient with congenital acute monoblastic leukemia identified by molecular and cytogenetic techniques.
Annals of hematology 2009;88(8):795-7.
2009: Abul Kalam Azad; Robert Rauh; François Vermeulen; Martine Jaspers; Judit Korbmacher; Brigitte Boissier; Laurence Bassinet; Yann Fichou; Marie Des Georges; Frauke Stanke; Kris De Boeck; Lieven Dupont; Miroslava Balascáková; Lena Hjelte; Patrick Lebecque; Dragica Radojkovic; Carlo Castellani; Marianne Schwartz; Manfred Stuhrmann; Martin Schwarz; Veronika Skalicka; Isabelle de Monestrol; Emmanuelle Girodon; Claude Férec; Mireille Claustres; Burkhard Tümmler; Jean-Jacques Cassiman; Christoph Korbmacher; Harry Cuppens
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Human mutation 2009;30(7):1093-103.
2009: Etienne De Braekeleer; Jean-Christophe Ianotto; Nathalie Douet-Guilbert; Claus Meyer; Frédéric Morel; Marie-Josée Le Bris; Rolf Marschalek; Christian Berthou; Claude Férec; Marc de Braekeleer
A second case of secondary acute myeloblastic leukemia associated with the MLL-KIAA0284 fusion gene.
Blood cells, molecules & diseases 2009;42(3):292-3.
2009: Etienne De Braekeleer; Claude Férec; Marc de Braekeleer
RUNX1 translocations in malignant hemopathies.
Anticancer research 2009;29(4):1031-7.
2009: Jian-Min Chen; Claude Férec
The true culprit within the SPINK1 p.N34S-containing haplotype is still at large.
Gut 2009;58(4):478-80.
2009: Elisabeth Pasquier; Caroline Bohec; Dominique Mottier; S Jaffuel; Bernard Mercier; Claude Férec; Michel Collet; Luc de Saint-Martin
Inherited thrombophilias and unexplained pregnancy loss: an incident case-control study.
Journal of thrombosis and haemostasis : JTH 2009;7(2):306-11.
2009: Mathieu Kerbiriou; Ling Teng; Nathalie Benz; Pascal Trouvé; Claude Férec
The calpain, caspase 12, caspase 3 cascade leading to apoptosis is altered in F508del-CFTR expressing cells.
PloS one 2009;4(12):e8436.
2009: Gérald Le Gac; Chandran Ka; Isabelle Gourlaouen; Laurence Bryckaert; Anne-Yvonne Mercier; Brigitte Chanu; Virginie Scotet; Claude Férec
HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype.
Advances in hematology 2009;2009():251701.
2009: Jian-Min Chen; Claude Férec
Chronic pancreatitis: genetics and pathogenesis.
Annual review of genomics and human genetics 2009;10():63-87.
2008: Gérald Le Gac; Isabelle Gourlaouen; Christophe Ronsin; Vanna Géromel; Anne Bourgarit; Nathalie Parquet; Sylvia Quemener; Cédric Le Maréchal; Jian-Min Chen; Claude Férec
Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.
Blood 2008;112(13):5238-40.
2008: Marie-Anne Le Drévo; Nathalie Benz; Mathieu Kerbiriou; Marie-Agnès Giroux-Metges; Jean-Pierre Pennec; Pascal Trouvé; Claude Férec
Annexin A5 increases the cell surface expression and the chloride channel function of the DeltaF508-cystic fibrosis transmembrane regulator.
Biochimica et biophysica acta 2008;1782(10):605-14.
2008: Emmanuelle Masson; Cédric Le Maréchal; Jian-Min Chen; Claude Férec
Absence of mesotrypsinogen gene (PRSS3) copy number variations in patients with chronic pancreatitis.
Pancreas 2008;37(2):227-8.
2008: Etienne De Braekeleer; Nathalie Douet-Guilbert; Marie-Josée Le Bris; Frédéric Morel; Claude Férec; Marc de Braekeleer
RUNX1-MTG16 fusion gene in acute myeloblastic leukemia with t(16;21)(q24;q22): case report and review of the literature.
Cancer genetics and cytogenetics 2008;185(1):47-50.
2008: Jian-Min Chen; Claude Férec
Role of non-B DNA conformations in initiating the nonallelic homologous recombination-derived Se allele and the interlocus gene conversion-derived Sec1-FUT2-Sec1 hybrid allele.
Transfusion 2008;48(7):1522-3; author reply 1523-4.
2008: Sandrine Jacolot; Claude Férec; GIANNI MURA
Iron responses in hepatic, intestinal and macrophage/monocyte cell lines under different culture conditions.
Blood cells, molecules & diseases 2008;41(1):100-8.
2008: Emmanuelle Masson; Cédric Le Maréchal; Richard Delcenserie; Jian-Min Chen; Claude Férec
Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation.
Human genetics 2008;123(5):521-9.
2008: Gaëlle Friocourt; Shigeaki Kanatani; Hidenori Tabata; Masato Yozu; Takao Takahashi; Mary Antypa; Odile Raguénès; Jamel Chelly; Claude Férec; Kazunori Nakajima; John G Parnavelas
Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2008;28(22):5794-805.
2008: Virginie Scotet; Ingrid Duguépéroux; Marie-Pierre Audrézet; Martine Blayau; Pierre Boisseau; Hubert Journel; Philippe Parent; Claude Férec
Prenatal diagnosis of cystic fibrosis: the 18-year experience of Brittany (western France).
Prenatal diagnosis 2008;28(3):197-202.
2008: Yann Fichou; Emmanuelle Génin; Cédric Le Maréchal; Marie-Pierre Audrézet; Virginie Scotet; Claude Férec
Estimating the age of CFTR mutations predominantly found in Brittany (Western France).
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2008;7(2):168-73.
2008: Emmanuelle Masson; Jian-Min Chen; Virginie Scotet; Cédric Le Maréchal; Claude Férec
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.
Human genetics 2008;123(1):83-91.
2008: Jian-Min Chen; Emmanuelle Masson; Cédric Le Maréchal; Claude Férec
Copy number variations in chronic pancreatitis.
Cytogenetic and genome research 2008;123(1-4):102-7.
2008: Vinciane Rebours; Marie-Christine Boutron-Ruault; Matthieu Schnee; Claude Férec; Frédérique Maire; Pascal Hammel; Philippe Ruszniewski; Philippe Lévy
Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series.
The American journal of gastroenterology 2008;103(1):111-9.
2008: Virginie Scotet; Baroukh M Assael; Ingrid Duguépéroux; Anna Tamanini; Marie-Pierre Audrézet; Claude Férec; Carlo Castellani
Time trends in birth incidence of cystic fibrosis in two European areas: data from newborn screening programs.
The Journal of pediatrics 2008;152(1):25-32.
2008: Emmanuelle Masson; Cédric Le Maréchal; Giriraj R Chandak; Jérôme Lamoril; Stephane Bezieau; Swapna Mahurkar; Seema Bhaskar; D Nageshwar Reddy; Jian-Min Chen; Claude Férec
Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2008;6(1):82-8.
2008: Jian-Min Chen; Emmanuelle Masson; Milan Macek Jr.; Odile Raguénès; Tereza Piskackova; Brigitte Fercot; Libor Fila; David N Cooper; Marie-Pierre Audrézet; Claude Férec
Detection of two Alu insertions in the CFTR gene.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2008;7(1):37-43.
2007: Mathieu Kerbiriou; Marie-Anne Le Drévo; Claude Férec; Pascal Trouvé
Coupling cystic fibrosis to endoplasmic reticulum stress: Differential role of Grp78 and ATF6.
Biochimica et biophysica acta 2007;1772(11-12):1236-49.
2007: Campbell R Sheen; Ursula R Jewell; Christine Morris; Stephen O Brennan; Claude Férec; Peter M George; Mark P Smith; Jian-Min Chen
Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication.
Human mutation 2007;28(12):1198-206.
2007: Pascal Trouvé; Marie-Anne Le Drévo; Mathieu Kerbiriou; Gaëlle Friocourt; Yann Fichou; Danièle Gillet; Claude Férec
Annexin V is directly involved in cystic fibrosis transmembrane conductance regulator's chloride channel function.
Biochimica et biophysica acta 2007;1772(10):1121-33.
2007: Jian-Min Chen; David N Cooper; Nadia Chuzhanova; Claude Férec; George P Patrinos
Gene conversion: mechanisms, evolution and human disease.
Nature reviews. Genetics 2007;8(10):762-75.
2007: Chandran Ka; Gérald Le Gac; Emilie Letocart; Isabelle Gourlaouen; Brigitte Martin; Claude Férec
Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation.
Haematologica 2007;92(9):1262-3.
2007: Emmanuelle Masson; Cédric Le Maréchal; Philippe Levy; Nadia Chuzhanova; Philippe Ruszniewski; David N Cooper; Jian-Min Chen; Claude Férec
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis.
Molecular genetics and metabolism 2007;92(1-2):168-75.
2007: Arnaud Boulling; Cédric Le Maréchal; Pascal Trouvé; Odile Raguénès; Jian-Min Chen; Claude Férec
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
European journal of human genetics : EJHG 2007;15(9):936-42.
2007: Michel Roussey; A Le Bihannic; Virginie Scotet; Marie-Pierre Audrezet; Martine Blayau; M Dagorne; Véronique David; Eric Deneuville; J L Giniès; M Laurans; Valérie Moisan-Petit; Gilles Rault; P Vigneron; Claude Férec
Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations.
Journal of inherited metabolic disease 2007;30(4):613.
2007: Cédric Le Maréchal; Christine Guerry; Caroline Benech; Laetitia Burlot; Brigitte Cavelier; Valérie Porra; Maryvonne Delamaire; Claude Férec; Jian-Min Chen
Identification of 12 novel RHD alleles in western France by denaturing high-performance liquid chromatography analysis.
Transfusion 2007;47(5):858-63.
2007: Orsolya Király; Arnaud Boulling; Heiko Witt; Cédric Le Maréchal; Jian-Min Chen; Jonas Rosendahl; Cinzia Battaggia; Thomas Wartmann; Miklós Sahin-Tóth; Claude Férec
Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.
Human mutation 2007;28(5):469-76.
2007: Manuèle Miné; Jian-Min Chen; Michèle Brivet; Isabelle Desguerre; Dominique Marchant; Pascale de Lonlay; Aral Bernard; Claude Férec; marc Mordekhaï ABITBOL; Daniel Ricquier; Cécile Marsac
A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.
Human mutation 2007;28(2):137-42.
2007: Nadia Chuzhanova; David N Cooper; Claude Férec; Jian-Min Chen
Searching for potential microRNA-binding site mutations amongst known disease-associated 3' UTR variants.
Genomic medicine 2007;1(1-2):29-33.
2007: Jian-Min Chen; Claude Férec; David N Cooper
Mechanism of Alu integration into the human genome.
Genomic medicine 2007;1(1-2):9-17.
2007: Emmanuel Oger; Karine Lacut; Bernard Mercier; Grégoire LE GAL; Christophe Leroyer; Elisabeth Pasquier; Claude Férec; Dominique Mottier
Estrogen receptor alpha polymorphism and venous thromboembolism in male and female: data from the EDITH study.
Thrombosis research 2007;119(4):433-9.
2006: Cédric Le Maréchal; Emmanuelle Masson; Jian-Min Chen; Frédéric Morel; Philippe Ruszniewski; Philippe Levy; Claude Férec
Hereditary pancreatitis caused by triplication of the trypsinogen locus.
Nature genetics 2006;38(12):1372-4.
2006: Yann Fichou; Claude Férec
The potential of oligonucleotides for therapeutic applications.
Trends in biotechnology 2006;24(12):563-70.
2006: Virginie Scotet; Marie-Pierre Audrézet; Michel Roussey; Gilles Rault; Anne Dirou-Prigent; Hubert Journel; Valérie Moisan-Petit; Véronique Storni; Claude Férec
Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?
Pediatrics 2006;118(5):e1523-9.
2006: Emmanuelle Masson; Cédric Le Maréchal; Jian-Min Chen; Thierry Frebourg; Eric Lerebours; Claude Férec
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
European journal of human genetics : EJHG 2006;14(11):1204-8.
2006: Jian-Min Chen; Claude Férec; David N Cooper
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.
Human genetics 2006;120(3):301-33.
2006: Jian-Min Chen; Claude Férec; David N Cooper
A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview.
Human genetics 2006;120(1):1-21.
2006: Claude Férec; Teresa Casals; Nadia Chuzhanova; Milan Macek Jr.; Thierry Bienvenu; Andrea Holubova; Caitriona King; Trudi McDevitt; Carlo Castellani; Philip M Farrell; Molly Sheridan; Sarah-Jane Pantaleo; Ourida Loumi; Taieb Messaoud; Harry Cuppens; Francesca Torricelli; Garry R Cutting; Robert Williamson; Maria Jesus Alonso Ramos; Pier Franco Pignatti; Odile Raguénès; David N Cooper; Marie-Pierre Audrézet; Jian-Min Chen
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.
European journal of human genetics : EJHG 2006;14(5):567-76.
2006: Jian-Min Chen; Claude Férec; David N Cooper
LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption.
Journal of biomedicine & biotechnology 2006;2006(1):56182.
2005: Gérald Le Gac; Claude Férec
The molecular genetics of haemochromatosis.
European journal of human genetics : EJHG 2005;13(11):1172-85.
2005: Jian-Min Chen; Nadia Chuzhanova; Peter D Stenson; Claude Férec; David N Cooper
Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions.
Human mutation 2005;26(4):362-73.
2005: Erwann Picquet; Karine Le Ny; Pascal Delépine; Tristan Montier; Jean-Jacques Yaouanc; Dominique Cartier; Hervé Des Abbayes; Claude Férec; Jean-Claude Clément
Cationic lipophosphoramidates and lipophosphoguanidines are very efficient for in vivo DNA delivery.
Bioconjugate chemistry 2005;16(5):1051-3.
2005: Jian-Min Chen; Peter D Stenson; David N Cooper; Claude Férec
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease.
Human genetics 2005;117(5):411-27.
2005: Chandran Ka; Gérald Le Gac; François-Yves Dupradeau; Jacques Rochette; Claude Férec
The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.
Human genetics 2005;117(5):467-75.
2005: Jian-Min Chen; Nadia Chuzhanova; Peter D Stenson; Claude Férec; David N Cooper
Complex gene rearrangements caused by serial replication slippage.
Human mutation 2005;26(2):125-34.
2005: Virginie Scotet; Gérald Le Gac; Marie-Christine Mérour; Anne-Yvonne Mercier; Brigitte Chanu; Chandran Ka; GIANNI MURA; Jean-Baptiste Nousbaum; Claude Férec
Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data.
BMC medical genetics 2005;6():24.
2005: Michel Roussey; A Le Bihannic; Marie-Pierre Audrezet; Martine Blayau; M Dagorne; Eric Deneuville; Claude Férec; Hubert Journel; Valérie Moisan-Petit; Gilles Rault; Virginie Scotet; Véronique Storni; P Vigneron
[Neonatal screening of cystic fibrosis: diagnostic and ethical problems with mild mutations].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2005;12(6):650-3.
2005: Jian-Min Chen; Nadia Chuzhanova; Peter D Stenson; Claude Férec; David N Cooper
Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage.
Human mutation 2005;25(2):207-21.
2005: GIANNI MURA; Odile Raguénes; Virginie Scotet; Sandrine Jacolot; Anne-Yvonne Mercier; Claude Férec
A 6-year survey of HFE gene test for hemochromatosis diagnosis.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(1):68-73.
2004: GIANNI MURA; Gérald Le Gac; Sandrine Jacolot; Claude Férec
Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2004;18(15):1922-4.
2004: Tristan Montier; Pascal Delépine; Chantal Pichon; Claude Férec; D J Porteous; Patrick Midoux
Non-viral vectors in cystic fibrosis gene therapy: progress and challenges.
Trends in biotechnology 2004;22(11):586-92.
2004: Tristan Montier; Pascal Delépine; Karine Le Ny; Yann Fichou; M Le Bris; E Hardy; E Picquet; Jean-Claude Clément; Jean-Jacques Yaouanc; Claude Férec
KLN-5: a safe monocationic lipophosphoramide to transfect efficiently haematopoietic cell lines and human CD34+ cells.
Biochimica et biophysica acta 2004;1665(1-2):118-33.
2004: Gérald Le Gac; Virginie Scotet; Chandran Ka; Isabelle Gourlaouen; Laurence Bryckaert; Sandrine Jacolot; GIANNI MURA; Claude Férec
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.
Human molecular genetics 2004;13(17):1913-8.
2004: Filipa Mendes; Laurent Doucet; Alexandre Hinzpeter; Claude Férec; Joanna Lipecka; Janine Fritsch; Aleksander Edelman; Huub Jorna; Rob Willemsen; Alice G M Bot; Hugo R de Jonge; Jocelyne Hinnrasky; Nicolas Castillon; Karima Taouil; Edith Puchelle; Deborah Penque; Margarida D Amaral
Immunohistochemistry of CFTR in native tissues and primary epithelial cell cultures.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2004;3 Suppl 2():37-41.
2004: Claude Férec; Cédric Le Maréchal; Marie-Pierre Audrézet; Carlos M Farinha; Margarida D Amaral; Sabina Gallati; Javier Sanz; Bernhard Steiner; Nathalie Mouchel; Ann Harris; Martin J Schwarz
Analysis of genomic CFTR DNA.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2004;3 Suppl 2():7-10.
2004: Gérald Le Gac; F Mons; Sandrine Jacolot; Virginie Scotet; Claude Férec; T Frébourg
Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent.
British journal of haematology 2004;125(5):674-8.
2004: Marie-Pierre Audrézet; Jian-Min Chen; Odile Raguénès; Nadia Chuzhanova; Karine Giteau; Cédric Le Maréchal; Isabelle Quéré; David N Cooper; Claude Férec
Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.
Human mutation 2004;23(4):343-57.
2004: Tristan Montier; Pascal Delépine; Rémi Marianowski; Karine Le Ny; Morgane Le Bris; Danielle Gillet; Gaël Potard; Philippe Mondine; Irène Frachon; Jean-Jacques Yaouanc; Jean-Claude Clément; Hervé Des Abbayes; Claude Férec
CFTR transgene expression in primary DeltaF508 epithelial cell cultures from human nasal polyps following gene transfer with cationic phosphonolipids.
Molecular biotechnology 2004;26(3):193-206.
2004: Tristan Montier; Pascal Delépine; Thierry Benvegnu; Vincent Ferrières; Marie-Laure Miramon; Stéphanie Dagorn; Christine Guillaume; Daniel Plusquellec; Claude Férec
Efficient gene transfer into human epithelial cell lines using glycosylated cationic carriers and neutral glycosylated co-lipids.
Blood cells, molecules & diseases 2004;32(2):271-82.
2004: Cédric Le Maréchal; Jian-Min Chen; C Le Gall; G Plessis; J Chipponi; Nadia Chuzhanova; Odile Raguénès; Claude Férec
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.
Human mutation 2004;23(2):205.
2004: Niels Teich; Cédric Le Maréchal; Zoltán Kukor; Karel Caca; Helmut Witzigmann; Jian-Min Chen; Miklós Tóth; Joachim Mössner; Volker Keim; Claude Férec; Miklós Sahin-Tóth
Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).
Human mutation 2004;23(1):22-31.
2003: Jian-Min Chen; Zoltán Kukor; Cédric Le Maréchal; Miklós Tóth; Laurent Tsakiris; Odile Raguénès; Claude Férec; Miklós Sahin-Tóth
Evolution of trypsinogen activation peptides.
Molecular biology and evolution 2003;20(11):1767-77.
2003: Laurent Doucet; Filipa Mendes; Tristan Montier; Pascal Delépine; Deborah Penque; Claude Férec; Margarida D Amaral
Applicability of different antibodies for the immunohistochemical localization of CFTR in respiratory and intestinal tissues of human and murine origin.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2003;51(9):1191-9.
2003: Sylvain R Rivard; Carmela Lanzara; Doria Grimard; Massimo Carella; Hervey Simard; Romina Ficarella; Raynald Simard; Adamo Pio D'Adamo; Claude Férec; Clara Camaschella; GIANNI MURA; Antonella Roetto; Marc de Braekeleer; Lucien Bechner; Paolo Gasparini
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.
European journal of human genetics : EJHG 2003;11(8):585-9.
2003: Virginie Scotet; Marie-Pierre Audrézet; Michel Roussey; Gilles Rault; Martine Blayau; Marc de Braekeleer; Claude Férec
Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France.
Human genetics 2003;113(3):280-5.
2003: Virginie Scotet; Marie-Christine Mérour; Anne-Yvonne Mercier; Brigitte Chanu; Thérèse Le Faou; Odile Raguénes; Gérald Le Gac; GIANNI MURA; Jean-Baptiste Nousbaum; Claude Férec
Hereditary hemochromatosis: effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation.
American journal of epidemiology 2003;158(2):129-34.
2003: Pascal Delépine; Christine Guillaume; Tristan Montier; Jean-Claude Clément; Jean-Jacques Yaouanc; Hervé Des Abbayes; F Berthou; A Le Pape; Claude Férec
Biodistribution study of phosphonolipids: a class of non-viral vectors efficient in mice lung-directed gene transfer.
The journal of gene medicine 2003;5(7):600-8.
2003: Virginie Scotet; David Barton; James B G Watson; Marie-Pierre Audrézet; Trudi McDevitt; Shirley McQuaid; Cathy Shortt; Marc de Braekeleer; Claude Férec; Cédric Le Maréchal
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.
Human mutation 2003;22(1):105.
2003: Marie-Josée Le Bris; Pascale Marcorelles; Marie-Pierre Audrézet; Philippe Parent; Patrick Heren; Hélène Le Guern; Angèle Herry; Frédéric Morel; Michel Collet; Claude Férec; Marc de Braekeleer
Prenatal diagnosis of mosaic tetrasomy 8p.
American journal of medical genetics. Part A 2003;120A(1):44-8.
2003: Jian-Min Chen; Claude Férec; Miklós Sahin-Tóth
Trypsinogen hL is not a new member of the human trypsinogen family, but a known mouse ortholog.
Biological & pharmaceutical bulletin 2003;26(6):909.
2003: Jian-Min Chen; Cédric Le Maréchal; Danièle Lucas; Odile Raguénès; Claude Férec
"Loss of function" mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis.
Molecular genetics and metabolism 2003;79(1):67-70.
2003: Gérald Le Gac; François-Yves Dupradeau; GIANNI MURA; Sandrine Jacolot; Virginie Scotet; Germain Esnault; Anne-Yvonne Mercier; Jacques Rochette; Claude Férec
Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.
Blood cells, molecules & diseases 2003;30(3):231-7.
2003: Jian-Min Chen; Claude Férec
Idiopathic vs hereditary pancreatitis.
JAMA : the journal of the American Medical Association 2003;289(8):984-5; author reply 985.
2003: Tristan Montier; Annie Cavalier; Pascal Delépine; Christine Guillaume; Jean-Claude Clément; Jean-Jacques Yaouanc; Gérard Morel; Daniel Thomas; Claude Férec
The use of in situ hybridization to study the transgene pathway following cellular transfection with cationic phosphonolipids.
Blood cells, molecules & diseases 2003;30(1):112-23.
2002: Virginie Scotet; Dominique Gillet; Ingrid Duguépéroux; Marie-Pierre Audrézet; Gil Bellis; Bénédicte Garnier; Michel Roussey; Gilles Rault; Philippe Parent; Marc de Braekeleer; Claude Férec
Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960.
Human genetics 2002;111(3):247-54.
2002: J Andrieux; Marie-Pierre Audrézet; Irène Frachon; Christophe Leroyer; C Roge; Virginie Scotet; Claude Férec
Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection system.
Clinical genetics 2002;62(1):60-7.
2002: Ingrid Duguépéroux; Gil Bellis; Claude Férec; Dominique Gillet; Virginie Scotet; Marc de Braekeleer
Relationship between genotype and phenotype for the CFTR gene W846X mutation.
Journal of medical genetics 2002;39(6):E32.
2002: Virginie Scotet; Marc de Braekeleer; Marie-Pierre Audrézet; Isabelle Quéré; B Mercier; Ingrid Duguépéroux; J Andrieux; Martine Blayau; Claude Férec
Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies.
Journal of medical genetics 2002;39(6):443-8.
2002: Laurence Vaysse; Christine Guillaume; Ingrid Burgelin; Philippe Gorry; Claude Férec; Benoît Arveiler
Proteolipidic vectors for gene transfer to the lung.
Biochemical and biophysical research communications 2002;290(5):1489-98.
2002: Marie-Pierre Audrézet; Jian-Min Chen; Cédric Le Maréchal; Philippe Ruszniewski; Michel Robaszkiewicz; Odile Raguénès; Isabelle Quéré; Virginie Scotet; Claude Férec
Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.
European journal of human genetics : EJHG 2002;10(2):100-6.
2002: Yann Loubières; Dominique Grenet; Brigitte Simon-Bouy; Jacques Medioni; Paul Landais; Claude Férec; Marc Stern
Association between genetically determined pancreatic status and lung disease in adult cystic fibrosis patients.
Chest 2002;121(1):73-80.
2001: Virginie Scotet; Marie-Pierre Audrézet; Marc de Braekeleer; Claude Férec
[Neonatal screening for cystic fibrosis].
Pathologie-biologie 2001;49(10):785-8.
2001: Jian-Min Chen; Tristan Montier; Claude Férec
Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations.
Human genetics 2001;109(3):245-52.
2001: GIANNI MURA; Gérald Le Gac; Virginie Scotet; Odile Raguenes; Anne-Yvonne Mercier; Claude Férec
Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs.
Journal of medical genetics 2001;38(9):632-6.
2001: Gérald Le Gac; GIANNI MURA; Claude Férec
Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC.
Clinical chemistry 2001;47(9):1633-40.
2001: Jian-Min Chen; C Cutler; C Jacques; G Boeuf; Erick Denamur; Guillaume Lecointre; B Mercier; Gordon Cramb; Claude Férec
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Molecular biology and evolution 2001;18(9):1771-88.
2001: Cédric Le Maréchal; Marie-Pierre Audrézet; Isabelle Quéré; Odile Raguénès; S Langonné; Claude Férec
Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.
Human genetics 2001;108(4):290-8.
2001: Sandrine Barthellemy; Nicole Maurin; Michel Roussey; Claude Férec; S Murolo; Patrice Berthézène; Juan L Iovanna; Jean-Charles Dagorn; Jacques Sarles
[Evaluation of 47,213 infants in neonatal screening for cystic fibrosis, using pancreatitis-associated protein and immunoreactive trypsinogen assays].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2001;8(3):275-81.
2001: Cédric Le Maréchal; Jian-Min Chen; Isabelle Quéré; Odile Raguénès; Claude Férec; J Auroux
Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.
BMC genetics 2001;2():19.
2001: Virginie Scotet; Marc de Braekeleer; Marie-Pierre Audrézet; L Lodé; C Verlingue; Isabelle Quéré; B Mercier; Ingrid Duguépéroux; JP Codet; M P Moineau; Philippe Parent; Claude Férec
Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.
Clinical genetics 2001;59(1):42-7.
2000: V Floch; S Loisel; E Guenin; A C Hervé; Jean-Claude Clement; Jean-Jacques Yaouanc; Claude Férec
Cation substitution in cationic phosphonolipids: a new concept to improve transfection activity and decrease cellular toxicity.
Journal of medicinal chemistry 2000;43(24):4617-28.
2000: Virginie Scotet; Marc de Braekeleer; Michel Roussey; Gilles Rault; Philippe Parent; M Dagorne; Hubert Journel; A Lemoigne; JP Codet; M Catheline; Véronique David; André Chaventré; Ingrid Duguépéroux; C Verlingue; Isabelle Quéré; B Mercier; Marie-Pierre Audrézet; Claude Férec
Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis.
Lancet 2000;356(9232):789-94.
2000: Gérald Le Gac; GIANNI MURA; Odile Raguenes; Anne-Yvonne Mercier; Marc de Braekeleer; Claude Férec
Nramp2 analysis in hemochromatosis probands.
Blood cells, molecules & diseases 2000;26(4):312-9.
2000: S Billon; Bernard Mercier; Claude Férec; Jean-François Abgrall
[Genetic analysis after allograft: prudence!].
Presse médicale (Paris, France : 1983) 2000;29(24):1353.
2000: Christine Guillaume; Pascal Delépine; B Mercier; Eric Gobin; JP Leroy; V Morin; Claude Férec
Phosphonocationic lipids in protein delivery to mice lungs.
Journal of pharmaceutical sciences 2000;89(5):639-45.
2000: Pascal Delépine; Christine Guillaume; V Floch; S Loisel; Jean-Jacques Yaouanc; Jean-Claude Clément; Hervé Des Abbayes; Claude Férec
Cationic phosphonolipids as nonviral vectors: in vitro and in vivo applications.
Journal of pharmaceutical sciences 2000;89(5):629-38.
2000: GIANNI MURA; Gérald Le Gac; Odile Raguénes; Anne-Yvonne Mercier; A Le Guen; Claude Férec
Relation between HFE mutations and mild iron-overload expression.
Molecular genetics and metabolism 2000;69(4):295-301.
2000: V Floch; Pascal Delépine; Christine Guillaume; S Loisel; S Chassé; G Le Bolc'h; Eric Gobin; JP Leroy; Claude Férec
Systemic administration of cationic phosphonolipids/DNA complexes and the relationship between formulation and lung transfection efficiency.
Biochimica et biophysica acta 2000;1464(1):95-103.
2000: Sylvain R Rivard; GIANNI MURA; Hervey Simard; Raynald Simard; Doria Grimard; Gérald Le Gac; Odile Raguenes; Claude Férec; Marc de Braekeleer
Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada).
British journal of haematology 2000;108(4):854-8.
2000: Sylvain R Rivard; C Allard; JP Leblanc; M Milot; G Aubin; F Simard; Claude Férec; Marc de Braekeleer
Correlation between mutations and age in cystic fibrosis in a French Canadian population.
Journal of medical genetics 2000;37(3):225-7.
2000: Sylvain R Rivard; GIANNI MURA; Hervey Simard; Raynald Simard; Doria Grimard; Gérald Le Gac; Odile Raguenes; Claude Férec; Marc de Braekeleer
Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada).
Blood cells, molecules & diseases 2000;26(1):10-4.
1999: GIANNI MURA; Odile Raguenes; Claude Férec
HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.
Blood 1999;93(8):2502-5.
1999: Jacques Sarles; Sandrine Barthellemy; Claude Férec; Juan L Iovanna; Michel Roussey; Jean-Pierre Farriaux; A Toutain; Jacques Berthelot; Nicole Maurin; JP Codet; Patrice Berthézène; Jean-Charles Dagorn
Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis.
Archives of disease in childhood. Fetal and neonatal edition 1999;80(2):F118-22.
1999: Claude Férec; Odile Raguénès; R Salomon; C Roche; J P Bernard; M Guillot; Isabelle Quéré; Christophe Faure; B Mercier; Marie-Pierre Audrézet; P J Guillausseau; C Dupont; A Munnich; J D Bignon; L Le Bodic
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.
Journal of medical genetics 1999;36(3):228-32.
1998: C Guillaume-Gable; V Floch; B Mercier; Marie-Pierre Audrézet; Eric Gobin; G Le Bolch; Jean-Jacques Yaouanc; Jean-Claude Clément; Hervé Des Abbayes; J P Leroy; V Morin; Claude Férec
Cationic phosphonolipids as nonviral gene transfer agents in the lungs of mice.
Human gene therapy 1998;9(16):2309-19.
1998: Christophe Leroyer; Bernard Mercier; Emmanuel Oger; E Chenu; Jean-François Abgrall; Claude Férec; Dominique Mottier
Prevalence of 20210 A allele of the prothrombin gene in venous thromboembolism patients.
Thrombosis and haemostasis 1998;80(1):49-51.
1998: C Verlingue; S Vuillaumier; B Mercier; M Le Gac; Jacques Elion; Claude Férec; Erick Denamur
Absence of mutations in the interspecies conserved regions of the CFTR promoter region in cystic fibrosis (CF) and CF related patients.
Journal of medical genetics 1998;35(2):137-40.
1998: Marc de Braekeleer; C Mari; C Verlingue; C Allard; JP Leblanc; F Simard; G Aubin; Claude Férec
Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada).
Clinical genetics 1998;53(1):44-6.
1997: Christophe Leroyer; Bernard Mercier; M Escoffre; Claude Férec; Dominique Mottier
Factor V Leiden prevalence in venous thromboembolism patients.
Chest 1997;111(6):1603-6.
1997: Marc de Braekeleer; G Mari; C Verlingue; C Allard; JP Leblanc; F Simard; G Aubin; Claude Férec
Clinical features of cystic fibrosis patients with rare genotypes in Saguenay Lac-Saint-Jean (Quebec, Canada).
Annales de génétique 1997;40(4):205-8.
1997: V Floch; G Le Bolc'h; Marie-Pierre Audrézet; Jean-Jacques Yaouanc; Jean-Claude Clément; Hervé Des Abbayes; B Mercier; Jean-François Abgrall; Claude Férec
Cationic phosphonolipids as non viral vectors for DNA transfection in hematopoietic cell lines and CD34+ cells.
Blood cells, molecules & diseases 1997;23(1):69-87.
1997: Christine Clavel; F Pennaforte; F Pigeon; C Verlingue; P Birembaut; Claude Férec
Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140.
Human mutation 1997;9(4):368-9.
1996: M De Braekeleer; Claude Férec
Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.
Molecular human reproduction 1996;2(9):669-77.
1996: Marc de Braekeleer; A Chaventré; G Bertorelle; C Verlingue; O Raguénès; Bernard Mercier; Claude Férec
Linkage disequilibrium between the four most common cystic fibrosis mutations and microsatellite haplotypes in the Celtic population of Brittany.
Human genetics 1996;98(2):223-7.
1996: L Le Bodic; Jean-Denis Bignon; O Raguénès; Bernard Mercier; T Georgelin; M Schnee; F Soulard; K Gagne; F Bonneville; Jean-Yves Muller; L Bachner; Claude Férec
The hereditary pancreatitis gene maps to long arm of chromosome 7.
Human molecular genetics 1996;5(4):549-54.
1996: N Morral; Thilo Dörk; R Llevadot; V Dziadek; Bernard Mercier; Claude Férec; Bruno Costes; Emmanuelle Girodon; Julian Zielenski; L C Tsui; Burkhard Tümmler; Xavier Estivill
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.
Human mutation 1996;8(2):149-59.
1996: Marie-Pierre Audrézet; Michel Robaszkiewicz; Bernard Mercier; Jean-Baptiste Nousbaum; E Hardy; J P Bail; Alain Volant; Patrick Lozac'h; H Gouérou; Claude Férec
Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.
Human mutation 1996;7(2):109-13.
1996: T Messaoud; C Verlingue; E Denamur; O Pascaud; I Quéré; Slaheddine Fattoum; Jacques Elion; Claude Férec
Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations.
European journal of human genetics : EJHG 1996;4(1):20-4.
1995: Claude Férec; C Verlingue; P Parent; J F Morin; J P Codet; G Rault; M Dagorne; A Lemoigne; H Journel; M Roussey
Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses.
Human genetics 1995;96(5):542-8.
1995: Alain Volant; Jean-Baptiste Nousbaum; M A Giroux; I Roué-Quintin; J P Metges; Claude Férec; H Gouérou; Michel Robaszkiewicz
p53 protein accumulation in oesophageal squamous cell carcinomas and precancerous lesions.
Journal of clinical pathology 1995;48(6):531-4.
1995: O Raguénès; Bernard Mercier; J Clèdes; B Whebe; Claude Férec
HLA class II typing and idiopathic IgA nephropathy (IgAN): DQB1*0301, a possible marker of unfavorable outcome.
Tissue antigens 1995;45(4):246-9.
1995: Claude Férec; Giuseppe Novelli; C Verlingue; I Quéré; B Dallapiccola; Marie-Pierre Audrézet; Bernard Mercier
Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.
Molecular and cellular probes 1995;9(2):135-7.
1995: Bernard Mercier; Willy Lissens; Marie-Pierre Audrézet; M Bonduelle; I Quéré; P Hilbert; I Liebaers; Claude Férec
Identification of two novel mutations in the cystic fibrosis gene: 1898+3A-->C and 2711delT.
Human mutation 1995;6(2):188-9.
1995: C Verlingue; Nikolai I Kapranov; Bernard Mercier; E K Ginter; N V Petrova; Marie-Pierre Audrezet; Claude Férec
Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.
Human mutation 1995;5(3):205-9.
1995: Bernard Mercier; C Verlingue; Willy Lissens; S J Silber; Giuseppe Novelli; M Bonduelle; Marie-Pierre Audrézet; Claude Férec
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
American journal of human genetics 1995;56(1):272-7.
1994: M J Le Bris; Y Giovangrandi; Marie-Pierre Audrézet; H Journel; Claude Férec
Confined placental trisomy 7: pitfall for cystic fibrosis prenatal diagnosis.
Lancet 1994;344(8921):556.
1994: A Meyer; Françoise Valtot; Alain Béchetoille; Jean-François Rouland; Jean-Claude Dascotte; Claude Férec; Jean-François Bach; A Chaventré; Henri-Jean Garchon
[Linkage between juvenile glaucoma and chromosome 1q in 2 French families].
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1994;317(6):565-70.
1994: J L Iovanna; Claude Férec; J Sarles; J C Dagorn
The pancreatitis-associated protein (PAP). A new candidate for neonatal screening of cystic fibrosis.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1994;317(6):561-4.
1994: Marie-Pierre Audrézet; N Canki-Klain; Bernard Mercier; D Bracar; C Verlingue; Claude Férec
Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients.
Human genetics 1994;93(6):659-62.
1994: C Verlingue; Bernard Mercier; I Lecoq; Marie-Pierre Audrézet; D Laroche; G Travert; Claude Férec
Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis.
Human genetics 1994;93(4):429-34.
1994: C Verlingue; G Travert; M G Le Roux; D Laroche; Marie-Pierre Audrézet; Bernard Mercier; J P Moisan; Claude Férec
[Cystic fibrosis gene mutations in the West of France: clinical application].
Annales de biologie clinique 1994;52(11):757-64.
1994: Bernard Mercier; Marie-Pierre Audrézet; J Feigelson; F Douchain; O Raguénès; C Verlingue; I Quéré; Claude Férec
Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A.
Human mutation 1994;4(3):224-6.
1993: Marie-Pierre Audrézet; Bruno Costes; N Ghanem; Pascale Fanen; C Verlingue; J F Morin; Bernard Mercier; Michel Goossens; Claude Férec
Screening for cystic fibrosis in dried blood spots of newborns.
Molecular and cellular probes 1993;7(6):497-502.
1993: Claude Férec; C Verlingue; H Guillermit; I Quéré; O Raguénès; J Feigelson; Marie-Pierre Audrézet; P Moullier; Bernard Mercier
Genotype analysis of adult cystic fibrosis patients.
Human molecular genetics 1993;2(10):1557-60.
1993: Marie-Pierre Audrézet; Giuseppe Novelli; Bernard Mercier; Federica Sangiuolo; P Maceratesi; Claude Férec; Bruno Dallapiccola
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
Human heredity 1993;43(5):295-300.
1993: Claude Férec; C Verlingue; Marie-Pierre Audrézet; H Guillermit; I Quéré; Odile Raguenes; Bernard Mercier
Prenatal diagnosis of cystic fibrosis in different European populations: application of denaturing gradient gel electrophoresis.
Fetal diagnosis and therapy 1993;8(5):341-50.
1993: H Guillermit; M Jéhanne; I Quéré; Marie-Pierre Audrézet; Bernard Mercier; Claude Férec
A novel mutation in exon 3 of the CFTR gene.
Human genetics 1993;91(3):233-5.
1993: Marie-Pierre Audrézet; Bernard Mercier; H Guillermit; I Quéré; C Verlingue; G Rault; Claude Férec
Identification of 12 novel mutations in the CFTR gene.
Human molecular genetics 1993;2(1):51-4.
1992: Claude Férec; Marie-Pierre Audrezet; Bernard Mercier; H Guillermit; P Moullier; I Quere; C Verlingue
Detection of over 98% cystic fibrosis mutations in a Celtic population.
Nature genetics 1992;1(3):188-91.
1990: Claude Férec; H Guillermit; C Verlingue; P Parent; H Puissant; M Jehanne; J P Saleun
[Direct diagnosis of predominant mutation delta F508 associated with the mucoviscidosis gene].
Archives françaises de pédiatrie 1990;47(7):507-10.
1986: P Deroff; P le Touzé; F Quivoron; A Y Mercier; Claude Férec; J P Saleun
[Prevention of post-transfusional malaria].
Revue française de transfusion et immuno-hématologie 1986;29(3):175-82.