UMR1078

UMR 1078
Genetics, functional genomics
and biotechnology

Publications de l'équipe Génétique Fonctionnelle

Publications par année

 

Pour toute information sur les publications, contactez : 

 claude.ferec(at)chu-brest.fr

 

2015/2014/2013 /2012 / 2011 / 2010 / 2009 / 2008 / 2007 / 2006 / 2005 / 2004 / 2003-1995

  2015

  •   Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis. Zou WB, Boulling A, Masson E, Cooper DN, Liao Z, Li ZS, Férec C, Chen JM. Gut. 2015 Dec 30. pii: gutjnl-2015-311168. doi: 10.1136/gutjnl-2015-311168.
  •   High level of inbreeding in final phase of 1000 Genomes Project. Gazal S, Sahbatou M, Babron MC, Génin E, Leutenegger AL. Sci Rep. 2015 Dec 2;5:17453. doi: 10.1038/srep17453.
  • Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements. Moisan S, Berlivet S, Ka C, Gac GL, Dostie J, Férec C. Nucleic Acids Res. 2015 Nov 28. pii: gkv1300. [Epub ahead of print]
  • Relationship inference from the genetic data on parents or offspring: A comparative study. Gazal S, Génin E, Leutenegger AL. Theor Popul Biol. 2015 Sep 30. pii: S0040-5809(15)00087-8. doi: 10.1016/j.tpb.2015.09.002. [Epub ahead of print]
  • Dual NRASQ61R and BRAFV600E mutation-specific immunohistochemistry completes molecular screening in melanoma samples in a routine practice. Uguen A, Guéguen P, Legoupil D, Bouvier S, Costa S, Duigou S, Lemasson G, Ledé F, Sassolas B, Talagas M, Férec C, Le Maréchal C, De Braekeleer M, Marcorelles P. Hum Pathol. 2015 Nov;46(11):1582-91. doi: 10.1016/j.humpath.2015.06.023. Epub 2015 Jul 15.
  • Identification of a functional PRSS1 promoter variant in linkage disequilibrium with the chronic pancreatitis- rotecting rs10273639. Boulling A, Sato M, Masson E, Génin E, Chen JM, Férec C. Gut. 2015 Nov;64(11):1837-8. doi: 10.1136/gutjnl-2015-310254. Epub 2015 Aug 5. No abstract available.
  • Integration of Omics Data in Genetic Epidemiology. Génin E, Devoto M. Hum Hered. 2015;79(3-4):109-10. doi: 10.1159/000382041. Epub 2015 Jul 28. No abstract available.
  • Complex Multiple-Nucleotide Substitution Mutations Causing Human Inherited Disease Reveal Novel Insights  nto the Action of Translesion Synthesis DNA Polymerases. Chen JM, Férec C, Cooper DN. Hum Mutat. 2015 Nov;36(11):1034-8. doi: 10.1002/humu.22831. Epub 2015 Aug 3.
  • Report of 2 CTRC Intronic Mutations Associated With Acute or Chronic Pancreatitis and Delineation of Their  athogenic Molecular Mechanisms. Masson E, Chen JM, Férec C. Pancreas. 2015 Aug;44(6):999-1001. doi: 10.1097/MPA.0000000000000359. No abstract available.
  • Overrepresentation of Rare CASR Coding Variants in a Sample of Young French Patients With Idiopathic  chronic Pancreatitis. Masson E, Chen JM, Férec C. Pancreas. 2015 Aug;44(6):996-8. doi: 10.1097/MPA.0000000000000361. No abstract available.
  • The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease. Cornec-Le Gall E, Audrézet MP, Rousseau A, Hourmant M, Renaudineau E, Charasse C, Morin MP, Moal MC, Dantal J, Wehbe B, Perrichot R, Frouget T, Vigneau C, Potier J, Jousset P, Guillodo MP, Siohan P, Terki N, Sawadogo T, Legrand D, Menoyo-Calonge V, Benarbia S, Besnier D, Longuet H, Férec C, Le Meur Y. J Am Soc Nephrol. 2015 Jul 6. pii: ASN.2015010016. [Epub ahead of print]
  • Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney disease. Audrézet MP, Corbiere C, Lebbah S, Morinière V, Broux F, Louillet F, Fischbach M, Zaloszyc A, Cloarec S, Merieau E, Baudouin V, Deschênes G, Roussey G, Maestri S, Visconti C, Boyer O, Abel C, Lahoche A, Randrianaivo H, Bessenay L, Mekahli D, Ouertani I, Decramer S, Ryckenwaert A, Cornec-Le Gall E, Salomon R, Ferec C, Heidet L. J Am Soc Nephrol. 2015 Jul 2. pii: ASN.2014101051. [Epub ahead of print]
  • New clues to the evolutionary history of the main European paternal lineage M269: dissection of the Y-SNP S116 in Atlantic Europe and Iberia. Valverde L, Illescas MJ, Villaescusa P, Gotor AM, García A, Cardoso S, Algorta J, Catarino S, Rouault K, Férec C, Hardiman O, Zarrabeitia M, Jiménez S, Pinheiro MF, Jarreta BM, Olofsson J, Morling N, de Pancorbo MM. Eur J Hum Genet. 2015 Jun 17. doi: 10.1038/ejhg.2015.114. [Epub ahead of print]
  • Molecular RHD-RHCE Analysis by Multiplex PCR of Short Fluorescent Fragments. Fichou Y, Férec C. Methods Mol Biol. 2015;1310:97-104. doi: 10.1007/978-1-4939-2690-9_8.
  • Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas. Su P, Wang Y, Cooper DN, Zhu W, Huang D, Férec C, Wang Y, Chen JM. Hum Mutat. 2015 Aug;36(8):758-63. doi: 10.1002/humu.22815. Epub 2015 Jun 17.
  • Advancement in recombinant protein production using a marine oxygen carrier to enhance oxygen transfer in a CHO-S cell line. Le Pape F, Bossard M, Dutheil D, Rousselot M, Polard V, Férec C, Leize E, Delépine P, Zal F. Artif Cells Nanomed Biotechnol. 2015 Jun;43(3):186-95. doi: 10.3109/21691401.2015.1029632. Epub 2015 May 11.
  • Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh. Fichou Y, Gehannin P, Corre M, Le Guern A, Le Maréchal C, Le Gac G, Férec C. Transfusion. 2015 Jun;55(6 Pt 2):1432-43. doi: 10.1111/trf.13083. Epub 2015 Mar 21.
  • 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. Wang Y, Su P, Hu B, Zhu W, Li Q, Yuan P, Li J, Guan X, Li F, Jing X, Li R, Zhang Y, Férec C, Cooper DN, Wang J, Huang D, Chen JM, Wang Y. Hum Genet. 2015 Jun;134(6):589-603. doi: 10.1007/s00439-015-1539-4. Epub 2015 Mar 20.
  • Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Chapman AB, Devuyst O, Eckardt KU, Gansevoort RT, Harris T, Horie S, Kasiske BL, Odland D, Pei Y, Perrone RD, Pirson Y, Schrier RW, Torra R, Torres VE, Watnick T, Wheeler DC; Conference Participants. Kidney Int. 2015 Jul;88(1):17-27. doi: 10.1038/ki.2015.59. Epub 2015 Mar 18.
  • A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. Fjeld K, Weiss FU, Lasher D, Rosendahl J, Chen JM, Johansson BB, Kirsten H, Ruffert C, Masson E, Steine SJ, Bugert P, Cnop M, Grützmann R, Mayerle J, Mössner J, Ringdal M, Schulz HU, Sendler M, Simon P, Sztromwasser P, Torsvik J, Scholz M, Tjora E, Férec C, Witt H, Lerch MM, Njølstad PR, Johansson S, Molven A. Nat Genet. 2015 May;47(5):518-22. doi: 10.1038/ng.3249. Epub 2015 Mar 16.
  • DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Viel M, Hubert D, Burgel PR, Génin E, Honoré I, Martinez B, Gaitch N, Chapron J, Kanaan R, Dusser D, Girodon E, Bienvenu T. Clin Respir J. 2015 Mar 12. doi: 10.1111/crj.12288. [Epub ahead of print]
  • HFE hemochromatosis: influence of dietary iron intake on the iron overload of C282Y homozygous patients. Saliou P, Le Gac G, Mérour MC, Tripogney C, Chanu B, Gourlaouen I, Nousbaum JB, Férec C, Scotet V. Ann Hematol. 2015 Jul;94(7):1225-7. doi: 10.1007/s00277-015-2343-x. Epub 2015 Mar 6. No abstract available.
  • G551D-CFTR needs more bound actin than wild-type CFTR to maintain its presence in plasma membranes. Trouvé P, Kerbiriou M, Teng L, Benz N, Taiya M, Le Hir S, Férec C. Cell Biol Int. 2015 Aug;39(8):978-85. doi: 10.1002/cbin.10456. Epub 2015 Apr 8.
  • The missing heritability paradigm: a dramatic resurgence of the GIGO syndrome in genetics. Génin E, Clerget-Darpoux F. Hum Hered. 2015;79(1):1-4. doi: 10.1159/000370327. Epub 2015 Feb 6. No abstract available.
  • Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis. Bonini J, Varilh J, Raynal C, Thèze C, Beyne E, Audrezet MP, Ferec C, Bienvenu T, Girodon E, Tuffery-Giraud S, Des Georges M, Claustres M, Taulan-Cadars M. Genet Med. 2015 Oct;17(10):796-806. doi: 10.1038/gim.2014.194. Epub 2015 Jan 8.
  • Concurrent nucleotide substitution mutations in the human genome are characterized by a significantly decreased transition/transversion ratio. Zhu W, Cooper DN, Zhao Q, Wang Y, Liu R, Li Q, Férec C, Wang Y, Chen JM. Hum Mutat. 2015 Mar;36(3):333-41. doi: 10.1002/humu.22749.
  • Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA)). Marchi N, Pissard S, Cliquennois M, Vasseur C, Le Metayer N, Mereau C, Jouet JP, Georgel AF, Genin E, Rose C. Eur J Hum Genet. 2015 Sep;23(9):1158-64. doi: 10.1038/ejhg.2014.263. Epub 2014 Dec 3.
  • Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis. de Tayrac M, Roth MP, Jouanolle AM, Coppin H, le Gac G, Piperno A, Férec C, Pelucchi S, Scotet V, Bardou-Jacquet E, Ropert M, Bouvet R, Génin E, Mosser J, Deugnier Y. J Hepatol. 2015 Mar;62(3):664-72. doi: 10.1016/j.jhep.2014.10.017. Epub 2014 Oct 18.
  • Genetic and electrophysiological characteristics of recurrent acute pancreatitis. Werlin S, Konikoff FM, Halpern Z, Barkay O, Yerushalmi B, Broide E, Santo E, Shamir R, Shaoul R, Shteyer E, Yaakov Y, Cohen M, Kerem E, Ruszniewski P, Masson E, Ferec C, Wilschanski M. J Pediatr Gastroenterol Nutr. 2015 May;60(5):675-9. doi: 10.1097/MPG.0000000000000623.
  • Characterization of the second HFE gross deletion highlights the potential importance of Alu-mediated recombination in haemochromatosis. Ka C, Chen JM, Gourlaouen I, Quemener S, Ronsin C, Massonnet S, Thérond JP, Férec C, Le Gac G. Br J Haematol. 2015 Mar;168(5):759-62. doi: 10.1111/bjh.13145. Epub 2014 Oct 4. No abstract available.
  • Polymorphisms at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study. Derikx MH, Kovacs P, Scholz M, Masson E, Chen JM, Ruffert C, Lichtner P, Te Morsche RH, Cavestro GM, Férec C, Drenth JP, Witt H, Rosendahl J; PanEuropean Working group on Alcoholic Chronic Pancreatitis Members and Collaborators. Gut. 2015 Sep;64(9):1426-33. doi: 10.1136/gutjnl-2014-307453. Epub 2014 Sep 24. 
  • Audrézet MP, Munck A, Scotet V, Claustres M, Roussey M, Delmas D, Férec C, Desgeorges M. Genet Med. 2015 Feb;17(2):108-16. doi: 10.1038/gim.2014.113. Epub 2014 Aug 14. Erratum in: Genet Med. 2015 Jan;17(1):93.     Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy.

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 2014

  • Dual NRASQ61R and BRAFV600E mutation-specific immunohistochemistry completes molecular screening in melanoma samples in a routine practice. Uguen A, Guéguen P, Legoupil D, Bouvier S, Costa S, Duigou S, Lemasson G, Ledé F, Sassolas B, Talagas M, Férec C, Le Maréchal C, De Braekeleer M, Marcorelles P.
    Hum Pathol. 2015 Nov;46(11):1582-91. doi: 10.1016/j.humpath.2015.06.023. Epub 2015 Jul 15.
  • Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis. de Tayrac M, Roth MP, Jouanolle AM, Coppin H, le Gac G, Piperno A, Férec C, Pelucchi S, Scotet V, Bardou-Jacquet E, Ropert M, Bouvet R, Génin E, Mosser J, Deugnier Y.
    J Hepatol. 2015 Mar;62(3):664-72. doi: 10.1016/j.jhep.2014.10.017. Epub 2014 Oct 18.
  • Ka C, Chen JM, Gourlaouen I, Quemener S, Ronsin C, Massonnet S, Thérond JP, Férec C, Le Gac G. Characterization of the second HFE gross deletion highlights the potential importance of Alu-mediated recombination in haemochromatosis. Br J Haematol. 2014 Oct 4. doi: 10.1111/bjh.13145. [Epub ahead of print] PubMed PMID: 25284364.
  • Gall EC, Audrézet MP, Meur YL, Chen JM, Férec C. Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: Twenty Years On. Hum Mutat. 2014 Sep 29. doi: 10.1002/humu.22708. [Epub ahead of print] PubMed PMID: 25263802.
  • Derikx MH, Kovacs P, Scholz M, Masson E, Chen JM, Ruffert C, Lichtner P, Te Morsche RH, Cavestro GM, Algül H, Berg T, Bödeker H, Blüher M, Bruno MJ, Buch S, Bugert P, Cichoz-Lach H, Dabrowski A, Farré A, Frank J, Gasiorowska A, Geisz A, Goni E, Grothaus J, Grützmann R, Haas S, Hampe J, Hellerbrand C, Hegyi P, Huster D, Ioana M, Iordache S, Jurkowska G, Keim V, Landt O, Di Leo M, Lerch MM, Lévy P, Löhr MJ, Macek M, Malats N, Malecka-Panas E, Mariani A, Martorana D, Mayerle J, Mora J, Mössner J, Müller S, Ockenga J, Paderova J, Pedrazzoli S, Pereira SP, Pfützer R, Real FX, Rebours V, Ridinger M, Rietschel M, Rohde K, Sack S, Saftoiu A, Schneider A, Schulz HU, Soyka M, Simon P, Skipworth J, Stickel F, Stumvoll M, Testoni PA, Tönjes A, Treiber M, Weiss FU, Werner J, Wodarz N, Férec C, Drenth JP, Witt H, Rosendahl J. Polymorphisms at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study. Gut. 2014 Sep 24. pii: gutjnl-2014-307453. doi:10.1136/gutjnl-2014-307453. [Epub ahead of print] PubMed PMID: 25253127.
  • Fichou Y, Audrézet MP, Guéguen P, Le Maréchal C, Férec C. Next-generation sequencing is a credible strategy for blood group genotyping. Br J Haematol. 2014 Nov;167(4):554-562. doi: 10.1111/bjh.13084. Epub 2014 Aug 19. PubMed PMID:25135605.
  • Audrézet MP, Munck A, Scotet V, Claustres M, Roussey M, Delmas D, Férec C, Desgeorges M. Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy. Genet Med. 2014 Aug 14. doi: 10.1038/gim.2014.113. [Epub ahead of print] PubMed PMID: 25122143.
    Tripathi R, Benz N, Culleton B, Trouvé P, Férec C. Biophysical characterisation of calumenin as a charged F508del-CFTR folding modulator. PLoS One. 2014 Aug 13;9(8):e104970. doi: 10.1371/journal.pone.0104970. eCollection 2014. PubMed PMID: 25120007; PubMed Central PMCID: PMC4132023.
  • Marcorelles P, Friocourt G, Uguen A, Ledé F, Férec C, Laquerrière A. Cystic Fibrosis Transmembrane Conductance Regulator Protein (CFTR) Expression in the Developing Human Brain: Comparative Immunohistochemical Study between Patients with Normal and Mutated CFTR. J Histochem Cytochem. 2014 Nov;62(11):791-801. doi:10.1369/0022155414546190. Epub 2014 Jul 25. PubMed PMID: 25062999.
  • Le Gall T, Barbeau J, Barrier S, Berchel M, Lemiègre L, Jeftić J, Meriadec C, Artzner F, Gill DR, Hyde SC, Férec C, Lehn P, Jaffrès PA, Benvegnu T, Montier T. Effects of a novel archaeal tetraether-based colipid on the in vivo gene transfer activity of two cationic amphiphiles. Mol Pharm. 2014 Sep 2;11(9):2973-88. doi:10.1021/mp4006276. Epub 2014 Jul 30. PubMed PMID: 25029178.
  • Xhetani M, Seferi I, Férec C, Zoraqi G, Fichou Y. Distribution of Rhesus blood group antigens and weak D alleles in the population of Albania. Blood Transfus. 2014 Oct;12(4):565-9. doi: 10.2450/2014.0240-13. Epub 2014 Jun 12. PubMed PMID: 24960662; PubMed Central PMCID: PMC4212038.
  • Callebaut I, Joubrel R, Pissard S, Kannengiesser C, Gérolami V, Ged C, Cadet E, Cartault F, Ka C, Gourlaouen I, Gourhant L, Oudin C, Goossens M, Grandchamp B, De Verneuil H, Rochette J, Férec C, Le Gac G. Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients. Hum Mol Genet. 2014 Sep 1;23(17):4479-90. doi: 10.1093/hmg/ddu160. Epub 2014 Apr 8. PubMed PMID: 24714983.
  • Chen JM, Cooper DN, Férec C. A new and more accurate estimate of the rate of concurrent tandem-base substitution mutations in the human germline: ∼0.4% of the single-nucleotide substitution mutation rate. Hum Mutat. 2014 Mar;35(3):392-4.
  • Sanders DB, Li Z, Laxova A, Rock MJ, Levy H, Collins J, Ferec C, Farrell PM. Risk Factors for the Progression of Cystic Fibrosis Lung Disease throughout Childhood. Ann Am Thorac Soc. 2014 Jan;11(1):63-72.

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 2013

  • Saliou P, Le Gac G, Mercier AY, Chanu B, Guéguen P, Mérour MC, Gourlaouen I, Autret S, Le Maréchal C, Rouault K, Nousbaum JB, Férec C, Scotet V. Evidence for the High Importance of Co-Morbid Factors in HFE C282Y/H63D Patients Cared by Phlebotomies: Results from an Observational Prospective Study. PLoS One. 2013 Dec 5;8(12):e81128.
  • van der Woerd WL, van Haaften-Visser DY, van de Graaf SF, Férec C, Masson E, Stapelbroek JM, Bugert P, Witt H, Houwen RH. Mutational analysis of ATP8B1 in patients with chronic pancreatitis. PLoS One. 2013 Nov 19;8(11):e80553.
  • Guéguen P, Rouault K, Chen JM, Raguénès O, Fichou Y, Hardy E, Gobin E, Pan-Petesch B, Kerbiriou M, Trouvé P, Marcorelles P, Abgrall JF, Le Maréchal C, Férec C. A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. PLoS One. 2013 Sep 17;8(9):e74728.
  • Witt H, Beer S, Rosendahl J, Chen JM, Chandak GR, Masamune A, Bence M, Szmola R, Oracz G, Macek M Jr, Bhatia E, Steigenberger S, Lasher D, Bühler F, Delaporte C, Tebbing J, Ludwig M, Pilsak C, Saum K, Bugert P, Masson E, Paliwal S, Bhaskar S, Sobczynska-Tomaszewska A, Bak D, Balascak I, Choudhuri G, Nageshwar Reddy D, Rao GV, Thomas V, Kume K, Nakano E, Kakuta Y, Shimosegawa T, Durko L, Szabó A, Schnúr A, Hegyi P, Rakonczay Z Jr, Pfützer R, Schneider A, Groneberg DA, Braun M, Schmidt H, Witt U, Friess H, Algül H, Landt O, Schuelke M, Krüger R, Wiedenmann B, Schmidt F, Zimmer KP, Kovacs P, Stumvoll M, Blüher M, Müller T, Janecke A, Teich N, Grützmann R, Schulz HU, Mössner J, Keim V, Löhr M, Férec C, Sahin-Tóth M. Variants in CPA1 are strongly associated with early onset chronic pancreatitis. Nat Genet. 2013 Oct;45(10):1216-20.
  • Cézard C, Rabbind Singh A, Le Gac G, Gourlaouen I, Ferec C, Rochette J. Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies. Blood Cells Mol Dis.2014 Jan;52(1):27-34.
  • Masson E, Chen JM, Audrézet MP, Cooper DN, Férec C. A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients. PLoS One. 2013 Aug 8;8(8):e73522.
  • Le Gac G, Ka C, Joubrel R, Gourlaouen I, Lehn P, Mornon JP, Férec C, Callebaut I. Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues. Hum Mutat. 2013 Oct;34(10):1371-80. doi: 10.1002/humu.22369. Epub 2013 Sep 10.
  • Masson E, Hammel P, Garceau C, Bénech C, Quéméner-Redon S, Chen JM, Férec C. Characterization of two deletions of the CTRC locus. Mol Genet Metab. 2013 Jul;109(3):296-300.
  • Duguépéroux I, Audrézet MP, Parent P, Audebert-Bellanger S, Roussey M, Férec C, Scotet V. Cascade testing in families of carriers identified through newborn screening in Western Brittany (France). J Cyst Fibros. 2013 Jul;12(4):338-44.
  • Fichou Y, Le Maréchal C, Jamet D, Bryckaert L, Ka C, Audrézet MP, Le Gac G, Dupont I, Chen JM, Férec C. Establishment of a medium-throughput approach for the genotyping of RHD variants and report of nine novel rare alleles. Transfusion.2013 Aug;53(8):1821-8.
  • Aury-Landas J, Bougeard G, Castel H, Hernandez-Vargas H, Drouet A, Latouche JB, Schouft MT, Férec C, Leroux D, Lasset C, Coupier I, Caron O, Herceg Z, Frebourg T, Flaman JM. Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours. Eur J Hum Genet. 2013 Apr 24.
  • Chen JM, Férec C, Cooper DN. Patterns and Mutational Signatures of Tandem Base Substitutions Causing Human Inherited Disease. Hum Mutat. 2013 Apr 19. doi:10.1002/humu.22341. [Epub ahead of print]
  • Fichou Y, Le Maréchal C, Bryckaert L, Dupont I, Jamet D, Chen JM, Férec C. A convenient qualitative and quantitative method to investigate RHD-RHCE hybrid genes. Transfusion. 2013 Apr 3. doi:10.1111/trf.12179. [Epub ahead of print]
  • Cornec-Le Gall E, Audrézet MP, Chen JM, Hourmant M, Morin MP, Perrichot R, Charasse C, Whebe B, Renaudineau E, Jousset P, Guillodo MP, Grall-Jezequel A, Saliou P, Férec C, Le Meur Y. Type of PKD1 Mutation Influences Renal Outcome in ADPKD. J Am Soc Nephrol. 2013 Feb 21. [Epub ahead of print]
  • Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. J Med Genet. 2013 Apr;50(4):220-7.
  • Quéméner-Redon S, Bénech C, Audebert-Bellanger S, Friocourt G, Planes M, Parent P, Férec C. A small de novo 16q24.1 duplication in a woman with severe clinical features. Eur J Med Genet. 2013 Apr;56(4):211-5.
  • Jaspers A, Caers J, Le Gac G, Ferec C, Beguin Y, Fillet G. A novel mutation in the CUB sequence of matriptase-2 (TMPRSS6) is implicated in iron-resistant iron deficiency anaemia (IRIDA). Br J Haematol. 2013 Feb;160(4):564-5.
  • Chen JM, Fichou Y, Jamet D, Dupont I, Cooper DN, Le Maréchal C, Férec C. Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanisms. Transfusion.2013 Jan;53(1):206-10.

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 2012

  • Duguépéroux I, Audrézet MP, Parent P, Audebert-Bellanger S, Roussey M, Férec C, Scotet V. Cascade testing in families of carriers identified through newborn screening in Western Brittany (France). J Cyst Fibros. 2012 Dec 27.
  • Chen JM, Cooper DN, Férec C. Local sequence determinants of two in-frame triplet deletion/duplication hotspots in the RHD/RHCE genes. Hum Genomics. 2012 Aug 2;6:8.
  • Fichou Y, Le Maréchal C, Jamet D, Bryckaert L, Ka C, Audrézet MP, Le Gac G, Dupont I, Chen JM, Férec C. Establishment of a medium-throughput approach for the genotyping of RHD variants and report of nine novel rare alleles. Transfusion. 2012 Dec 11.
  • Ferec C, Cutting GR. Assessing the Disease-Liability of Mutations in CFTR. Cold Spring Harb Perspect Med. 2012 Dec 1;2(12):a009480.
  • Talagas M, Marcorelles P, Uguen A, Redon S, Quintin-Roué I, Costa S, Férec C, Morel F, Hieu PD, De Braekeleer M. Identification of a novel population in high-grade oligodendroglial tumors not deleted on 1p/19q using array CGH. J Neurooncol. 2012 Sep;109(2):405-13.
  • Teng L, Kerbiriou M, Taiya M, Le Hir S, Mignen O, Benz N, Trouvé P, Férec C. Proteomic identification of calumenin as a G551D-CFTR associated protein. PLoS One. 2012;7(6):e40173.
  • Chen JM, Férec C. Genetics and pathogenesis of chronic pancreatitis: the 2012 update. Clin Res Hepatol Gastroenterol. 2012 Aug;36(4):334-40.
  • Audrézet MP, Cornec-Le Gall E, Chen JM, Redon S, Quéré I, Creff J, Bénech C, Maestri S, Le Meur Y, Férec C. Autosomal dominant polycystic kidney disease:comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Hum Mutat. 2012 Aug;33(8):1239-50.
  • Trouvé P, Kerbiriou M, le Hir S, Benz N, Férec C. Surface plasmon resonance shows a gender difference in circulating annexin A5 in human. Talanta. 2012 May 15;93:219-23.
  • Fichou Y, Chen JM, Le Maréchal C, Jamet D, Dupont I, Chuteau C, Durousseau C, Loirat MJ, Bailly P, Férec C. Weak D caused by a founder deletion in the RHD gene. Transfusion. 2012 Nov;52(11):2348-55.
  • Boulling A, Keiles S, Masson E, Chen JM, Férec C. Functional analysis of eight missense mutations in the SPINK1 gene. Pancreas. 2012 Mar;41(2):329-30.
  • Scotet V, Duguépéroux I, Saliou P, Rault G, Roussey M, Audrézet MP, Férec C. Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France. Orphanet J Rare Dis. 2012 Mar 1;7:14.
  • Guéguen P, Chauvin A, Quémener-Redon S, Pan-Petesch B, Férec C, Abgrall JF, Le Maréchal C. Revisiting the molecular epidemiology of factor XI deficiency:nine new mutations and an original large 4qTer deletion in western Brittany (France). Thromb Haemost. 2012 Jan;107(1):44-50.
  • Chen JM, Férec C, Cooper DN. Transient hypermutability, chromothripsis and replication-based mechanisms in the generation of concurrent clustered mutations. Mutat Res. 2012 Jan-Mar;750(1):52-9.
  • Duguépéroux I, Scotet V, Audrézet MP, Saliou AH, Collet M, Blayau M, Schmitt S, Kitzis A, Fresquet F, Müller F, Férec C. Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis. Prenat Diagn. 2012 Jan;32(1):21-8.
  • Fichou Y, Le Maréchal C, Bryckaert L, Guerry C, Bénech C, Dupont I, Jamet D, Férec C, Chen JM. Variant screening of the RHD gene in a large cohort of subjects with D phenotype ambiguity: report of 17 novel rare alleles. Transfusion. 2012 Apr;52(4):759-64.
  • Marcorelles P, Gillet D, Friocourt G, Ledé F, Samaison L, Huguen G, Ferec C. Cystic fibrosis transmembrane conductance regulator protein expression in the male excretory duct system during development. Hum Pathol. 2012 Mar;43(3):390-7.

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 2011

  • Quillé ML, Carat S, Quéméner-Redon S, Hirchaud E, Baron D, Benech C, Guihot J, Placet M, Mignen O, Férec C, Houlgatte R, Friocourt G. 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.
  • De Braekeleer E, Meyer C, Douet-Guilbert N, Basinko A, Le Bris MJ, Morel F, Berthou C, Marschalek R, Férec C, De Braekeleer M. Identification of MLL partner genes in 27 patients with acute leukemia from a single cytogenetic laboratory. Mol Oncol. 2011 Dec;5(6):555-63.
  • Cooper DN, Bacolla A, Férec C, Vasquez KM, Kehrer-Sawatzki H, Chen JM. 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. Hum Mutat. 2011 Oct;32(10):1075-99.
  • Chen JM, Cooper DN, Férec C. Local DNA sequence determinants of FUT2 copy number variation. Transfusion. 2011 Jun;51(6):1359-61.
  • Boulling A, Witt H, Chandak GR, Masson E, Paliwal S, Bhaskar S, Reddy DN, Cooper DN, Chen JM, Férec C. Assessing the pathological relevance of SPINK1 promoter variants. Eur J Hum Genet. 2011 Oct;19(10):1066-73.
  • Steiner B, Rosendahl J, Witt H, Teich N, Keim V, Schulz HU, Pfützer R, Löhr M, Gress TM, Nickel R, Landt O, Koudova M, Macek M Jr, Farre A, Casals T, Desax MC, Gallati S, Gomez-Lira M, Audrezet MP, Férec C, des Georges M, Claustres M, Truninger K. Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. Hum Mutat. 2011 Aug;32(8):912-20.
  • De Braekeleer E, Douet-Guilbert N, Rowe D, Bown N, Morel F, Berthou C, Férec C, De Braekeleer M. ABL1 fusion genes in hematological malignancies: a review. Eur J Haematol. 2011 May;86(5):361-71.
  • Yang Y, Férec C, Mura C. SNP and haplotype analysis reveals new HFE variants associated with iron overload trait. Hum Mutat. 2011 Apr;32(4):E2104-17.
  • Dujardin G, Commandeur D, Le Jossic-Corcos C, Ferec C, Corcos L. Splicing defects in the CFTR gene: minigene analysis of two mutations, 1811+1G>C and 1898+3A>G. J Cyst Fibros. 2011 May;10(3):212-6.
  • De Braekeleer E, Douet-Guilbert N, Morel F, Le Bris MJ, Férec C, De Braekeleer M. RUNX1 translocations and fusion genes in malignant hemopathies. Future Oncol. 2011 Jan;7(1):77-91.

HAUT DE PAGE

 2010

  • Scotet V, Duguépéroux I, Audrézet MP, Audebert-Bellanger S, Muller M, Blayau M, Férec C. Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany,France. Am J Obstet Gynecol. 2010 Dec;203(6):592.e1-6.
  • Basinko A, Perrin A, Nguyen HA, Morel F, Le Bris MJ, Saliou AH, Collet M, Parent P, Benech C, Quemener S, Ferec C, Douet-Guilbert N, De Braekeleer M. Balanced transmission of a paternal complex chromosomal rearrangement involving chromosomes 2, 3, and 18. Am J Med Genet A. 2010 Oct;152A(10):2646-50.
  • Jacolot S, Yang Y, Paitry P, Férec C, Mura C. Iron metabolism in macrophages from HFE hemochromatosis patients. Mol Genet Metab. 2010 Oct-Nov;101(2-3):258-67.
  • De Braekeleer E, Meyer C, Le Bris MJ, Douet-Guilbert N, Basinko A, Morel F, Berthou C, Marschalek R, Férec C, De Braekeleer M. 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. Leuk Lymphoma. 2010 Aug;51(8):1570-3.
  • Chen JM, Cooper DN, Férec C, Kehrer-Sawatzki H, Patrinos GP. Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol. 2010 Aug;20(4):222-33.
  • De Braekeleer E, Douet-Guilbert N, Basinko A, Le Bris MJ, Morel F, Berthou C, Férec C, De Braekeleer M. Distinct clonal anomalies involving RUNX1 in acute myeloid leukemia at diagnosis and after bone marrow transplantation. Ann Hematol. 2010 Dec;89(12):1277-81.
  • De Braekeleer E, Douet-Guilbert N, Morel F, Le Bris MJ, Basinko A, Berthou C, Morice P, Férec C, De Braekeleer M. Philadelphia chromosome-positive acute lymphoblastic leukemia: a cytogenetic study of 33 patients diagnosed between 1981 and 2008. Anticancer Res. 2010 Feb;30(2):569-73.
  • Masson E, Paliwal S, Bhaskar S, Prakash S, Scotet V, Reddy DN, Le Maréchal C, Ratan Chandak G, Chen JM, Férec C. Genetic analysis of the glycoprotein 2 gene in patients with chronic pancreatitis. Pancreas. 2010 Apr;39(3):353-8.
  • De Braekeleer E, Meyer C, Douet-Guilbert N, Morel F, Le Bris MJ, Berthou C, Arnaud B, Marschalek R, Férec C, De Braekeleer M. Complex and cryptic chromosomal rearrangements involving the MLL gene in acute leukemia: a study of 7 patients and review of the literature. Blood Cells Mol Dis. 2010 Apr 15;44(4):268-74.
  • Li WF, Hou SX, Yu B, Li MM, Férec C, Chen JM. Genetics of osteoporosis: accelerating pace in gene identification and validation. Hum Genet. 2010 Mar;127(3):249-85.
  • Quemener S, Chen JM, Chuzhanova N, Bénech C, Casals T, Macek M Jr, Bienvenu T, McDevitt T, Farrell PM, Loumi O, Messaoud T, Cuppens H, Cutting GR, Stenson PD, Giteau K, Audrézet MP, Cooper DN, Férec C. Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci. Hum Mutat. 2010 Apr;31(4):421-8.
  • Le Gac G, Congiu R, Gourlaouen I, Cau M, Férec C, Melis MA. Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia. Haematologica. 2010 Apr;95(4):685-7.
  • De Braekeleer E, Douet-Guilbert N, Morel F, Le Bris MJ, Berthou C, Férec C, De Braekeleer M. RUNX1 amplification in B-cell acute lymphoblastic leukemia. Leuk Lymphoma. 2010 Feb;51(2):329-32.
  • Walsh AC, Rault G, Li Z, Scotet V, Duguépéroux I, Férec C, Roussey M, Laxova A, Farrell PM; participating CF centres of Brittany, France. Pulmonary outcome differences in U.S. and French cystic fibrosis cohorts diagnosed through newborn screening. J Cyst Fibros. 2010 Jan;9(1):44-50.
  • Boulling A, Le Gac G, Dujardin G, Chen JM, Férec C. The c.1275A>G putative chronic pancreatitis-associated synonymous polymorphism in the glycoprotein 2 (GP2) gene decreases exon 9 inclusion. Mol Genet Metab. 2010 Mar;99(3):319-24.
  • Milet J, Le Gac G, Scotet V, Gourlaouen I, Thèze C, Mosser J, Bourgain C, Deugnier Y, Férec C. 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. 2010 Jan 15;44(1):34-7.  

HAUT DE PAGE

 2009

  • Kerbiriou M, Teng L, Benz N, Trouvé P, Férec C. The calpain, caspase 12,caspase 3 cascade leading to apoptosis is altered in F508del-CFTR expressing cells. PLoS One. 2009 Dec 24;4(12):e8436.
  • Le Gac G, Ka C, Gourlaouen I, Bryckaert L, Mercier AY, Chanu B, Scotet V, Férec C. HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype. Adv Hematol. 2009;2009:251701.
  • Oca F, Dreux S, Gérard B, Simon-Bouy B, de Becdelièvre A, Ferec C, Girodon E, Muller F. Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance. Clin Chem. 2009 Dec;55(12):2214-7.
  • Létocart E, Le Gac G, Majore S, Ka C, Radio FC, Gourlaouen I, De Bernardo C, Férec C, Grammatico P. A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases. Br J Haematol. 2009 Nov;147(3):379-85.
  • Chen JM, Férec C, Cooper DN. Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes. Hum Mutat. 2009 Oct;30(10):1435-48.
  • De Braekeleer E, Douet-Guilbert N, Morel F, Le Bris MJ, Meyer C, Marschalek R, Férec C, De Braekeleer M. FLNA, a new partner gene fused to MLL in a patient with acute myelomonoblastic leukaemia. Br J Haematol. 2009 Sep;146(6):693-5.
  • Chauvin A, Chen JM, Quemener S, Masson E, Kehrer-Sawatzki H, Ohmle B, Cooper DN, Le Maréchal C, Férec C. Elucidation of the complex structure and origin of the human trypsinogen locus triplication. Hum Mol Genet. 2009 Oct 1;18(19):3605-14.
  • Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B, Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L, Balascáková M, Hjelte L, Lebecque P, Radojkovic D, Castellani C, Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I, Girodon E, Férec C, Claustres M, Tümmler B, Cassiman JJ, Korbmacher C, Cuppens H. Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Hum Mutat. 2009 Jul;30(7):1093-103.
  • Chen JM, Férec C. Chronic pancreatitis: genetics and pathogenesis. Annu Rev Genomics Hum Genet. 2009;10:63-87.
  • Chuzhanova N, Chen JM, Bacolla A, Patrinos GP, Férec C, Wells RD, Cooper DN. Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair. Hum Mutat. 2009 Aug;30(8):1189-98.
  • De Braekeleer E, Férec C, De Braekeleer M. RUNX1 translocations in malignant hemopathies. Anticancer Res. 2009 Apr;29(4):1031-7. Review.
  • Chen JM, Férec C. The true culprit within the SPINK1 p.N34S-containing haplotype is still at large. Gut. 2009 Apr;58(4):478-80.
  • De Braekeleer E, Ianotto JC, Douet-Guilbert N, Meyer C, Morel F, Le Bris MJ, Marschalek R, Berthou C, Férec C, De Braekeleer M. A second case of secondary acute myeloblastic leukemia associated with the MLL-KIAA0284 fusion gene. Blood Cells Mol Dis. 2009 May-Jun;42(3):292-3.
  • Castellani C, Southern KW, Brownlee K, Dankert Roelse J, Duff A, Farrell M, Mehta A, Munck A, Pollitt R, Sermet-Gaudelus I, Wilcken B, Ballmann M, Corbetta C, de Monestrol I, Farrell P, Feilcke M, Férec C, Gartner S, Gaskin K, Hammermann J, Kashirskaya N, Loeber G, Macek M Jr, Mehta G, Reiman A, Rizzotti P, Sammon A, Sands D, Smyth A, Sommerburg O, Torresani T, Travert G, Vernooij A, Elborn S. European best practice guidelines for cystic fibrosis neonatal screening. J Cyst  Fibros. 2009 May;8(3):153-73.
  • De Braekeleer E, Meyer C, Douet-Guilbert N, Morel F, Le Bris MJ, Marschalek R, Férec C, De Braekeleer M. A complex 1;19;11 translocation involving the MLL gene in a patient with congenital acute monoblastic leukemia identified by molecular and cytogenetic techniques. Ann Hematol. 2009 Aug;88(8):795-7.
  • Feldmann D, Le Maréchal C, Jonard L, Thierry P, Czajka C, Couderc R, Ferec C, Denoyelle F, Marlin S, Fellmann F. A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss. Eur J Med Genet. 2009 Jul-Aug;52(4):195-200.
  • Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek M, Pignatti PF, Scheffer H, Schwartz M, Witt M, Schwarz M, Girodon E. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. Eur J Hum Genet. 2009 Jan;17(1):51-65.

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2008

  • Yalçin E, Ozçelik U, Yilmaz E, Doğru D, Kiper N, Ferec C. Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype. Turk J Pediatr. 2008 Jul-Aug;50(4):383-5.
  • Verny C, Amati-Bonneau P, Letournel F, Person B, Dib N, Malinge MC, Slama A, Le Maréchal C, Ferec C, Procaccio V, Reynier P, Bonneau D. Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis. Diabetes Metab. 2008 Dec;34(6 Pt 1):620-6.
  • Le Gac G, Gourlaouen I, Ronsin C, Géromel V, Bourgarit A, Parquet N, Quemener S, Le Maréchal C, Chen JM, Férec C. Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype. Blood. 2008 Dec 15;112(13):5238-40.
  • Le Drévo MA, Benz N, Kerbiriou M, Giroux-Metges MA, Pennec JP, Trouvé P, Férec C. Annexin A5 increases the cell surface expression and the chloride channel function of the DeltaF508-cystic fibrosis transmembrane regulator. Biochim Biophys Acta. 2008 Oct;1782(10):605-14.
  • Audrezet MP, Dabricot A, Le Marechal C, Ferec C. Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. J Mol Diagn. 2008 Sep;10(5):424-34.
  • Jolivet-Gougeon A, Loréal O, Ingels A, Danic B, Ropert M, Bardou-Jacquet E,Aqodad N, Aussant-Bertel F, Ferec C, Brissot P. Serum transferrin saturation increase is associated with decrease of antibacterial activity of serum in patients with HFE-related genetic hemochromatosis. Am J Gastroenterol. 2008 Oct;103(10):2502-8.
  • Masson E, Le Maréchal C, Chen JM, Férec C. Absence of mesotrypsinogen gene (PRSS3) copy number variations in patients with chronic pancreatitis. Pancreas. 2008 Aug;37(2):227-8.
  • De Braekeleer E, Douet-Guilbert N, Le Bris MJ, Morel F, Férec C, De Braekeleer M. RUNX1-MTG16 fusion gene in acute myeloblastic leukemia with t(16;21)(q24;q22): case report and review of the literature. Cancer Genet Cytogenet. 2008 Aug;185(1):47-50.
  • Chen JM, Férec C. 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 Jul;48(7):1522-3; author reply 1523-4.
  • Friocourt G, Kanatani S, Tabata H, Yozu M, Takahashi T, Antypa M, Raguénès O, Chelly J, Férec C, Nakajima K, Parnavelas JG. Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis. J Neurosci. 2008 May 28;28(22):5794-805.
  • Masson E, Le Maréchal C, Delcenserie R, Chen JM, Férec C. Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation. Hum Genet. 2008 Jun;123(5):521-9.
  • Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A, Casals T, Claustres M, Cutting GR, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, Munck A, Pignatti PF, Radojkovic D, Rizzotti P, Schwarz M, Stuhrmann M, Tzetis M, Zielenski J, Elborn JS. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros. 2008 May;7(3):179-96.
  • Gérolami V, Le Gac G, Mercier L, Nezri M, Bergé-Lefranc JL, Férec C. Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent. Haematologica. 2008 May;93(5):e45-6.
  • Garçon N, Roguedas AM, Misery L, Audrezet MP, Ferec C. [Aquagenic wrinkling of the palms in a patient with cystic fibrosis heterozygous for the DeltaF 508 mutation]. Ann Dermatol Venereol. 2008 Mar;135(3):232-4.
  • Jacolot S, Férec C, Mura C. Iron responses in hepatic, intestinal and macrophage/monocyte cell lines under different culture conditions. Blood Cells Mol Dis. 2008 Jul-Aug;41(1):100-8.
  • Scotet V, Duguépéroux I, Audrézet MP, Blayau M, Boisseau P, Journel H, Parent P, Férec C. Prenatal diagnosis of cystic fibrosis: the 18-year experience of Brittany (western France). Prenat Diagn. 2008 Mar;28(3):197-202.
  • Rebours V, Boutron-Ruault MC, Schnee M, Férec C, Maire F, Hammel P, Ruszniewski P, Lévy P. Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series. Am J Gastroenterol. 2008 Jan;103(1):111-9.
  • Masson E, Chen JM, Scotet V, Le Maréchal C, Férec C. Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis. Hum Genet. 2008 Feb;123(1):83-91.
  • Masson E, Le Maréchal C, Chandak GR, Lamoril J, Bezieau S, Mahurkar S, Bhaskar S, Reddy DN, Chen JM, Férec C. Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis. Clin Gastroenterol Hepatol. 2008 Jan;6(1):82-8.
  • Fichou Y, Génin E, Le Maréchal C, Audrézet MP, Scotet V, Férec C. Estimating the age of CFTR mutations predominantly found in Brittany (Western France). J Cyst Fibros. 2008 Mar;7(2):168-73.
  • Loumi O, Ferec C, Mercier B, Creff J, Fercot B, Denine R, Grangaud JP. CFTR mutations in the Algerian population. J Cyst Fibros. 2008 Jan;7(1):54-9.
  • Chen JM, Masson E, Macek M Jr, Raguénès O, Piskackova T, Fercot B, Fila L, Cooper DN, Audrézet MP, Férec C. Detection of two Alu insertions in the CFTR gene. J Cyst Fibros. 2008 Jan;7(1):37-43.

HAUT DE PAGE

2007

  • Chuzhanova N, Cooper DN, Férec C, Chen JM. Searching for potential microRNA-binding site mutations amongst known disease-associated 3' UTR variants. Genomic Med. 2007;1(1-2):29-33. 
  • Chen JM, Férec C, Cooper DN. Mechanism of Alu integration into the human genome. Genomic Med. 2007;1(1-2):9-17.
  • Kerbiriou M, Le Drévo MA, Férec C, Trouvé P. Coupling cystic fibrosis to endoplasmic reticulum stress: Differential role of Grp78 and ATF6. Biochim Biophys Acta. 2007 Dec;1772(11-12):1236-49.
  • Le Caignec C, Isidor B, de Pontbriand U, David V, Audrezet MP, Ferec C, David A. Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth. Am J Med Genet A. 2007 Nov 15;143A(22):2696-9.
  • Marcorelles P, Montier T, Gillet D, Lagarde N, Ferec C. Evolution of CFTR protein distribution in lung tissue from normal and CF human fetuses. Pediatr Pulmonol. 2007 Nov;42(11):1032-40.
  • Trouvé P, Le Drévo MA, Kerbiriou M, Friocourt G, Fichou Y, Gillet D, Férec C. Annexin V is directly involved in cystic fibrosis transmembrane conductance regulator's chloride channel function. Biochim Biophys Acta. 2007 Oct;1772(10):1121-33.
  • Jolivet-Gougeon A, Ingels A, Danic B, Aussant-Bertel F, Ferec C, Loréal O, Minet J, Brissot P. No increased seroprevalence of anti-Yersinia antibodies in patients with type 1 (C282Y/C282Y) hemochromatosis. Scand J Gastroenterol. 2007 Nov;42(11):1388-9.
  • Chen JM, Cooper DN, Chuzhanova N, Férec C, Patrinos GP. Gene conversion: mechanisms, evolution and human disease. Nat Rev Genet. 2007 Oct;8(10):762-75.
  • Fichou Y, Génin E, Le Maréchal C, Audrézet MP, Scotet V, Férec C. Estimating the age of CFTR mutations predominantly found in Brittany (Western France). J Cyst Fibros. 2008 Mar;7(2):168-73.
  • Pasquier E, Bohec C, De Saint Martin L, Le Maréchal C, Le Martelot MT, Roche S, Laurent Y, Férec C, Collet M, Mottier D. Strong evidence that skewed X-chromosome inactivation is not associated with recurrent pregnancy loss: an incident paired case control study. Hum Reprod. 2007 Nov;22(11):2829-33.
  • Ka C, Le Gac G, Letocart E, Gourlaouen I, Martin B, Férec C. Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation. Haematologica. 2007 Sep;92(9):1262-3.
  • Sheen CR, Jewell UR, Morris CM, Brennan SO, Férec C, George PM, Smith MP, Chen JM. Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication. Hum Mutat. 2007 Dec;28(12):1198-206.
  • Masson E, Le Maréchal C, Levy P, Chuzhanova N, Ruszniewski P, Cooper DN, Chen JM, Férec C. Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis. Mol Genet Metab. 2007 Sep-Oct;92(1-2):168-75.
  • Roussey M, Le Bihannic A, Scotet V, Audrezet MP, Blayau M, Dagorne M, David V, Deneuville E, Giniès JL, Laurans M, Moisan-Petit V, Rault G, Vigneron P, Férec C. Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations. J Inherit Metab Dis. 2007 Aug;30(4):613.
  • Boulling A, Le Maréchal C, Trouvé P, Raguénès O, Chen JM, Férec C. Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene. Eur J Hum Genet. 2007 Sep;15(9):936-42.
  • Le Maréchal C, Guerry C, Benech C, Burlot L, Cavelier B, Porra V, Delamaire M, Férec C, Chen JM. Identification of 12 novel RHD alleles in western France by denaturing high-performance liquid chromatography analysis. Transfusion. 2007 May;47(5):858-63.
  • Gout AM; ADPKD Gene Variant Consortium, Ravine D, Harris PC, Rossetti S, Peters D, Breuning M, Henske EP, Koizumi A, Inoue S, Shimizu Y, Thongnoppakhun W, Yenchitsomanus PT, Deltas C, Sandford R, Torra R, Turco AE, Jeffery S, Fontes M, Somlo S, Furu LM, Smulders YM, Mercier B, Ferec C, Burtey S, Pei Y, Kalaydjieva L, Bogdanova N, McCluskey M, Geon LJ, Wouters CH, Reiterova J, Stekrová J, San
  • Millan JL, Aguiari G, Del Senno L. Analysis of published PKD1 gene sequence variants. Nat Genet. 2007 Apr;39(4):427-8. Review.
  • Király O, Boulling A, Witt H, Le Maréchal C, Chen JM, Rosendahl J, Battaggia C, Wartmann T, Sahin-Tóth M, Férec C. Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis. Hum Mutat. 2007 May;28(5):469-76.
  • Miné M, Chen JM, Brivet M, Desguerre I, Marchant D, de Lonlay P, Bernard A, Férec C, Abitbol M, Ricquier D, Marsac C. A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element. Hum Mutat. 2007 Feb;28(2):137-42.
  • Oger E, Lacut K, Mercier B, Le Gal G, Leroyer C, Pasquier E, Férec C, Mottier D. Estrogen receptor alpha polymorphism and venous thromboembolism in male and female: data from the EDITH study. Thromb Res. 2007;119(4):433-9.

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2006

  • Maurisse R, Fichou Y, De Semir D, Cheung J, Ferec C, Gruenert DC. Gel purification of genomic DNA removes contaminating small DNA fragments interfering with polymerase chain reaction analysis of small fragment homologous replacement. Oligonucleotides. 2006 Winter;16(4):375-86.
  • Couturaud F, Kearon C, Leroyer C, Mercier B, Abgrall JF, Le Gal G, Lacut K, Oger E, Bressollette L, Ferec C, Lamure M, Mottier D; Groupe d'Etude de la Thrombose de Bretagne Occidentale (G.E.T.B.O). Incidence of venous thromboembolism in first-degree relatives of patients with venous thromboembolism who have factor V Leiden. Thromb Haemost. 2006 Dec;96(6):744-9.
  • Le Maréchal C, Masson E, Chen JM, Morel F, Ruszniewski P, Levy P, Férec C. Hereditary pancreatitis caused by triplication of the trypsinogen locus. Nat Genet. 2006 Dec;38(12):1372-4.
  • Fichou Y, Férec C. The potential of oligonucleotides for therapeutic applications. Trends Biotechnol. 2006 Dec;24(12):563-70. Epub 2006 Oct 12. Review.
  • Nectoux J, Audrezet MP, Viel M, Leroy C, Raguenes O, Ferec C, Lesure JF, Davy N, Renouil M, Cartault F, Bienvenu T. A frequent large rearrangement in the CFTR gene in cystic fibrosis patients from Reunion Island. Genet Test. 2006 Fall;10(3):208-14.
  • Scotet V, Audrézet MP, Roussey M, Rault G, Dirou-Prigent A, Journel H, Moisan-Petit V, Storni V, Férec C. Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels? Pediatrics. 2006 Nov;118(5):e1523-9. Epub 2006 Oct 2.
  • Roguedas AM, Audrezet MP, Scotet V, Dupré-Goetghebeur D, Ferec C, Misery L. Intrinsic atopic dermatitis is associated with a beta-2 adrenergic receptor polymorphism. Acta Derm Venereol. 2006;86(5):447-8.
  • Chen JM, Férec C, Cooper DN. LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption. J Biomed Biotechnol. 2006;2006(1):56182.
  • Masson E, Le Maréchal C, Chen JM, Frebourg T, Lerebours E, Férec C. Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene. Eur J Hum Genet. 2006 Nov;14(11):1204-8.
  • Chen JM, Férec C, Cooper DN. 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. Hum Genet. 2006 Oct;120(3):301-33. Epub 2006 Jun 29. Review.
  • Le Gac G, Estève PO, Ferec C, Pradhan S. DNA damage-induced down-regulation of human Cdc25C and Cdc2 is mediated by cooperation between p53 and maintenance DNA (cytosine-5) methyltransferase 1. J Biol Chem. 2006 Aug 25;281(34):24161-70.
  • Oger E, Lacut K, Mercier B, Le Gal G, Leroyer C, Pasquier E, Férec C, Mottier D. Estrogen receptor alpha polymorphism and venous thromboembolism in male and female: data from the EDITH study. Thromb Res. 2007;119(4):433-9. Epub 2006 Jun 9.
  • Witt H, Sahin-Tóth M, Landt O, Chen JM, Kähne T, Drenth JP, Kukor Z, Szepessy E, Halangk W, Dahm S, Rohde K, Schulz HU, Le Maréchal C, Akar N, Ammann RW, Truninger K, Bargetzi M, Bhatia E, Castellani C, Cavestro GM, Cerny M, Destro-Bisol G, Spedini G, Eiberg H, Jansen JB, Koudova M, Rausova E, Macek M Jr, Malats N, Real FX, Menzel HJ, Moral P, Galavotti R, Pignatti PF, Rickards O,Spicak J, Zarnescu NO, Böck W, Gress TM, Friess H, Ockenga J, Schmidt H, Pfützer R, Löhr M, Simon P, Weiss FU, Lerch MM, Teich N, Keim V, Berg T, Wiedenmann B, Luck W, Groneberg DA, Becker M, Keil T, Kage A, Bernardova J, Braun M, Güldner C, Halangk J, Rosendahl J, Witt U, Treiber M, Nickel R, Férec C. A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. Nat Genet. 2006 Jun;38(6):668-73.
  • Chen JM, Férec C, Cooper DN. A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview. Hum Genet. 2006 Aug;120(1):1-21.
  • Moalic V, Ferec C. [Graft vs host disease]. Pathol Biol (Paris). 2006 May;54(5):304-8. Epub 2006 Mar 10. Review. French.
  • Férec C, Casals T, Chuzhanova N, Macek M Jr, Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, Torricelli F, Cutting GR, Williamson R, Ramos MJ, Pignatti PF,Raguénès O, Cooper DN, Audrézet MP, Chen JM. 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. Eur J Hum Genet. 2006 May;14(5):567-76.
  • Braun AT, Farrell PM, Ferec C, Audrezet MP, Laxova A, Li Z, Kosorok MR,Rosenberg MA, Gershan WM. Cystic fibrosis mutations and genotype-pulmonary phenotype analysis. J Cyst Fibros. 2006 Jan;5(1):33-41.
  • Pompei F, Ciminelli BM, Bombieri C, Ciccacci C, Koudova M, Giorgi S,Belpinati F, Begnini A, Cerny M, Des Georges M, Claustres M, Ferec C, Macek M Jr,
  • Modiano G, Pignatti PF. Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations. Eur J Hum Genet. 2006 Jan;14(1):85-93.

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 2005

  • Moalic V, Ferec C. [HLA typing, analysis methods, and clinical applications]. Presse Med. 2005 Sep 10;34(15):1101-8. Review. French.
  • Messaoud T, Bel Haj Fredj S, Bibi A, Elion J, Férec C, Fattoum S. [Molecular epidemiology of cystic fibrosis in Tunisia]. Ann Biol Clin (Paris). 2005 Nov-Dec;63(6):627-30. French.
  • Picquet E, Le Ny K, Delépine P, Montier T, Yaouanc JJ, Cartier D, des Abbayes H, Férec C, Clément JC. Cationic lipophosphoramidates and lipophosphoguanidines are very efficient for in vivo DNA delivery. Bioconjug Chem. 2005 Sep-Oct;16(5):1051-3.
  • Eudes R, Lehn P, Férec C, Mornon JP, Callebaut I. Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations. Cell Mol Life Sci. 2005 Sep;62(18):2112-23.
  • Le Gac G, Férec C. The molecular genetics of haemochromatosis. Eur J Hum Genet. 2005 Nov;13(11):1172-85. Review.
  • Chen JM, Chuzhanova N, Stenson PD, Férec C, Cooper DN. Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Hum Mutat. 2005 Oct;26(4):362-73.
  • Chen JM, Stenson PD, Cooper DN, Férec C. A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease. Hum Genet. 2005 Sep;117(5):411-27. Epub 2005 Jun 28. Review.
  • Chen JM, Chuzhanova N, Stenson PD, Férec C, Cooper DN. Complex gene rearrangements caused by serial replication slippage. Hum Mutat. 2005 Aug;26(2):125-34.
  • Ka C, Le Gac G, Dupradeau FY, Rochette J, Férec C. The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein. Hum Genet. 2005 Sep;117(5):467-75.
  • Scotet V, Le Gac G, Mérour MC, Mercier AY, Chanu B, Ka C, Mura C, Nousbaum JB, Férec C. Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data. BMC Med Genet. 2005 Jun 1;6:24.
  • Roussey M, Le Bihannic A, Audrezet MP, Blayau M, Dagorne M, Deneuville E, Férec C, Journel H, Moisan-Petit V, Rault G, Scotet V, Storni V, Vigneron P. [Neonatal screening of cystic fibrosis: diagnostic and ethical problems with mild mutations]. Arch Pediatr. 2005 Jun;12(6):650-3.
  • Mercier B, Oger E, Le Gal G, Mottier D, Ferec C. Phenotypic but not allelic ABO blood group association with risk of venous thrombosis. Thromb Haemost. 2005 Feb;93(2):388-9.
  • Moalic V, Vaillant C, Ferec C. [Transfusion related acute lung injury (TRALI): an unrecognised pathology]. Pathol Biol (Paris). 2005 mar;53(2):111-5. Review. French.
  • Mura C, Raguénes O, Scotet V, Jacolot S, Mercier AY, Férec C. A 6-year survey of HFE gene test for hemochromatosis diagnosis. Genet Med. 2005 Jan;7(1):68-73.
  • Chen JM, Chuzhanova N, Stenson PD, Férec C, Cooper DN. Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Hum Mutat. 2005 Feb;25(2):207-21. Erratum in: Hum Mutat. 2005 Mar;25(3):318.
  • Marcorelles P, Audrezet MP, Le Bris MJ, Laurent Y, Chabaud JJ, Ferec C, de Braekeleer M, Collet M, Lagarde N. Diagnosis and outcome of complete hydatidiform mole coexisting with a live twin fetus. Eur J Obstet Gynecol Reprod Biol. 2005 Jan 10;118(1):21-7.
  • Modiano G, Bombieri C, Ciminelli BM, Belpinati F, Giorgi S, Georges Md, Scotet V, Pompei F, Ciccacci C, Guittard C, Audrézet MP, Begnini A, Toepfer M, Macek M, Ferec C, Claustres M, Pignatti PF. A large-scale study of the random variability of a coding sequence: a study on the CFTR gene. Eur J Hum Genet. 2005 Feb;13(2):184-92.

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 2004

  • Jacolot S, Le Gac G, Scotet V, Quere I, Mura C, Ferec C. HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. Blood. 2004 Apr 1;103(7):2835-40.
  • Teich N, Le Maréchal C, Kukor Z, Caca K, Witzigmann H, Chen JM, Tóth M, Mössner J, Keim V, Férec C, Sahin-Tóth M. Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2). Hum Mutat. 2004 Jan;23(1):22-31.
  • Le Maréchal C, Chen JM, Le Gall C, Plessis G, Chipponi J, Chuzhanova NA, Raguénès O, Férec C. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis. Hum Mutat. 2004 Feb;23(2):205.
  • Audrézet MP, Chen JM, Raguénès O, Chuzhanova N, Giteau K, Le Maréchal C, Quéré I, Cooper DN, Férec C. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat. 2004 Apr;23(4):343-57.
  • Le Gac G, Mons F, Jacolot S, Scotet V, Férec C, Frébourg T. Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent. Br J Haematol. 2004 Jun;125(5):674-8.
  • Le Gac G, Scotet V, Ka C, Gourlaouen I, Bryckaert L, Jacolot S, Mura C, Férec C. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. Hum Mol Genet. 2004 Sep 1;13(17):1913-8.
  • Férec C, Le Maréchal C, Audrézet MP, Farinha CM, Amaral MD, Gallati S, Sanz J, Steiner B, Mouchel N, Harris A, Schwarz MJ. Analysis of genomic CFTR DNA. J Cyst Fibros. 2004 Aug;3 Suppl 2:7-10. Review.
  • Mendes F, Doucet L, Hinzpeter A, Férec C, Lipecka J, Fritsch J, Edelman A, Jorna H, Willemsen R, Bot AG, De Jonge HR, Hinnrasky J, Castillon N, Taouil K, Puchelle E, Penque D, Amaral MD. Immunohistochemistry of CFTR in native tissues and primary epithelial cell cultures. J Cyst Fibros. 2004 Aug;3 Suppl 2:37-41. Review.
  • Mura C, Le Gac G, Jacolot S, Férec C. Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation. FASEB J. 2004 Dec;18(15):1922-4.

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 2003-1995