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Items: 1 to 50 of 90

1.

Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis.

Farrell P, Férec C, Macek M, Frischer T, Renner S, Riss K, Barton D, Repetto T, Tzetis M, Giteau K, Duno M, Rogers M, Levy H, Sahbatou M, Fichou Y, Le Maréchal C, Génin E.

Eur J Hum Genet. 2018 Dec;26(12):1832-1839. doi: 10.1038/s41431-018-0234-z. Epub 2018 Aug 8.

PMID:
30089827
2.

Detection of Clostridium botulinum group III in environmental samples from farms by real-time PCR using four commercial DNA extraction kits.

Le Maréchal C, Fourour S, Ballan V, Rouxel S, Souillard R, Chemaly M.

BMC Res Notes. 2018 Jul 4;11(1):441. doi: 10.1186/s13104-018-3549-5.

3.

A Mismatch Repair-Deficient Hepatoid Adenocarcinoma of the Lung Responding to Anti-PD-L1 Durvalumab Therapy Despite no PD-L1 Expression.

Basse V, Schick U, Guéguen P, Le Maréchal C, Quintin-Roué I, Descourt R, Simon H, Uguen A, Quéré G.

J Thorac Oncol. 2018 Jul;13(7):e120-e122. doi: 10.1016/j.jtho.2018.03.004. No abstract available.

4.

Exercise testing-based algorithms to diagnose McArdle disease and MAD defects.

Noury JB, Zagnoli F, Carré JL, Drouillard I, Petit F, Le Maréchal C, Marcorelles P, Rannou F.

Acta Neurol Scand. 2018 Oct;138(4):301-307. doi: 10.1111/ane.12957. Epub 2018 May 10.

PMID:
29749052
5.

Erratum to "Investigation of Clostridium botulinum group III's mobilome content" [Anaerobe 49 (2018) 71-77].

Woudstra C, Le Maréchal C, Souillard R, Anniballi F, Auricchio B, Bano L, Bayon-Auboyer MH, Koene M, Mermoud I, Brito RB, Lobato FCF, Silva ROS, Dorner MB, Fach P.

Anaerobe. 2019 Jun;57:117. doi: 10.1016/j.anaerobe.2018.04.008. Epub 2018 Apr 18. No abstract available.

PMID:
29678457
6.

Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele.

Fichou Y, Parchure D, Gogri H, Gopalkrishnan V, Le Maréchal C, Chen JM, Férec C, Madkaikar M, Ghosh K, Kulkarni S.

Transfusion. 2018 Jun;58(6):1540-1549. doi: 10.1111/trf.14552. Epub 2018 Feb 25.

PMID:
29479713
7.

Investigation of Clostridium botulinum group III's mobilome content.

Woudstra C, Le Maréchal C, Souillard R, Anniballi F, Auricchio B, Bano L, Bayon-Auboyer MH, Koene M, Mermoud I, Brito RB, Lobato FCF, Silva ROS, Dorner MB, Fach P.

Anaerobe. 2018 Feb;49:71-77. doi: 10.1016/j.anaerobe.2017.12.009. Epub 2017 Dec 26. Erratum in: Anaerobe. 2018 Apr 18;:.

PMID:
29287670
8.

Weak D type 1, 2 and 3 subtype alleles are rare in the Western French population.

Raud L, Le Maréchal C, Férec C, Fichou Y.

Transfus Med. 2019 Jun;29(3):209-210. doi: 10.1111/tme.12485. Epub 2017 Nov 22. No abstract available.

PMID:
29168247
9.

GJB2 mutations: Genotypic and phenotypic correlation in a cohort of 690 hearing-impaired patients, toward a new mutation?

Leclère JC, Le Gac MS, Le Maréchal C, Ferec C, Marianowski R.

Int J Pediatr Otorhinolaryngol. 2017 Nov;102:80-85. doi: 10.1016/j.ijporl.2017.09.011. Epub 2017 Sep 14.

PMID:
29106882
10.

Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.

Rannou F, Scotet V, Marcorelles P, Monnoyer R, Le Maréchal C.

PLoS One. 2017 Nov 2;12(11):e0187266. doi: 10.1371/journal.pone.0187266. eCollection 2017.

11.

A bovine botulism outbreak associated with a suspected cross-contamination from a poultry farm.

Souillard R, Le Maréchal C, Ballan V, Mahé F, Chemaly M, Le Bouquin S.

Vet Microbiol. 2017 Sep;208:212-216. doi: 10.1016/j.vetmic.2017.07.022. Epub 2017 Jul 24.

PMID:
28888640
12.

Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing.

Lim L, Palayer M, Bruneau A, Letournel F, Le Maréchal C, Simard G, Reynier P, Homedan C, Nadaj-Pakleza A.

Ann Biol Clin (Paris). 2017 Aug 1;75(4):445-449. doi: 10.1684/abc.2017.1253.

PMID:
28751290
13.

Identification of proteins involved in the anti-inflammatory properties of Propionibacterium freudenreichii by means of a multi-strain study.

Deutsch SM, Mariadassou M, Nicolas P, Parayre S, Le Guellec R, Chuat V, Peton V, Le Maréchal C, Burati J, Loux V, Briard-Bion V, Jardin J, Plé C, Foligné B, Jan G, Falentin H.

Sci Rep. 2017 Apr 13;7:46409. doi: 10.1038/srep46409.

14.

Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.

Redon S, Benech C, Schutz S, Despres A, Gueguen P, Le Berre P, Le Marechal C, Peudenier S, Meriot P, Parent P, Ferec C.

Am J Med Genet A. 2017 May;173(5):1444-1446. doi: 10.1002/ajmg.a.38180. Epub 2017 Apr 3. No abstract available.

PMID:
28371320
15.

Development and Validation of a New Reliable Method for the Diagnosis of Avian Botulism.

Le Maréchal C, Rouxel S, Ballan V, Houard E, Poezevara T, Bayon-Auboyer MH, Souillard R, Morvan H, Baudouard MA, Woudstra C, Mazuet C, Le Bouquin S, Fach P, Popoff M, Chemaly M.

PLoS One. 2017 Jan 11;12(1):e0169640. doi: 10.1371/journal.pone.0169640. eCollection 2017.

16.

Sequential analysis of 18 genes in polycythemia vera and essential thrombocythemia reveals an association between mutational status and clinical outcome.

Luque Paz D, Chauveau A, Boyer F, Buors C, Samaison L, Cottin L, Seegers V, Férec C, Le Maréchal C, Gueguen P, Lippert E, Ianotto JC, Ugo V.

Genes Chromosomes Cancer. 2017 May;56(5):354-362. doi: 10.1002/gcc.22437. Epub 2017 Feb 1.

PMID:
27997717
17.

Investigation of a type C/D botulism outbreak in free-range laying hens in France.

Souillard R, Le Maréchal C, Ballan V, Rouxel S, Léon D, Balaine L, Poëzevara T, Houard E, Robineau B, Robinault C, Chemaly M, Le Bouquin S.

Avian Pathol. 2017 Apr;46(2):195-201. doi: 10.1080/03079457.2016.1240355. Epub 2016 Dec 21.

PMID:
27686664
18.

The experience of extended blood group genotyping by next-generation sequencing (NGS): investigation of patients with sickle-cell disease.

Fichou Y, Mariez M, Le Maréchal C, Férec C.

Vox Sang. 2016 Nov;111(4):418-424. doi: 10.1111/vox.12432. Epub 2016 Jul 21.

PMID:
27442304
19.

New Insights into the Genetic Diversity of Clostridium botulinum Group III through Extensive Genome Exploration.

Woudstra C, Le Maréchal C, Souillard R, Bayon-Auboyer MH, Mermoud I, Desoutter D, Fach P.

Front Microbiol. 2016 May 19;7:757. doi: 10.3389/fmicb.2016.00757. eCollection 2016.

20.

Identification of novel variant A alleles within the ABO gene.

Fichou Y, Hennion M, Dupont I, Jamet D, Le Maréchal C, Férec C.

Transfusion. 2016 May;56(5):1244-6. doi: 10.1111/trf.13542. Epub 2016 Feb 26. No abstract available.

PMID:
26920498
21.

Three Rounds of External Quality Assessment in France to Evaluate the Performance of 28 Platforms for Multiparametric Molecular Testing in Metastatic Colorectal and Non-Small Cell Lung Cancer.

Dequeker EM, Keppens C, Egele C, Delen S, Lamy A, Lemoine A, Sabourin JC, Andrieu C, Ligtenberg M, Fetique D, Tops B, Descarpentries C, Blons H, Denoux Y, Aube C, Penault-Llorca F, Hofman P, Leroy K, Le Marechal C, Doucet L, Duranton-Tanneur V, Pedeutour F, Soubeyran I, Côté JF, Emile JF, Vignaud JM, Monhoven N, Haddad V, Laurent-Puig P, van Krieken H, Nowak F, Lonchamp E, Bellocq JP, Rouleau E.

J Mol Diagn. 2016 Mar;18(2):205-14. doi: 10.1016/j.jmoldx.2015.09.004. Epub 2016 Jan 2.

PMID:
26752307
22.

Insights into RHCE Molecular Analysis in Samples with Partial D Variants: the Experience of Western France.

Fichou Y, Le Maréchal C, Scotet V, Jamet D, Férec C.

Transfus Med Hemother. 2015 Nov;42(6):372-7. doi: 10.1159/000382086. Epub 2015 Jul 23.

23.

Livers provide a reliable matrix for real-time PCR confirmation of avian botulism.

Le Maréchal C, Ballan V, Rouxel S, Bayon-Auboyer MH, Baudouard MA, Morvan H, Houard E, Poëzevara T, Souillard R, Woudstra C, Le Bouquin S, Fach P, Chemaly M.

Anaerobe. 2016 Apr;38:7-13. doi: 10.1016/j.anaerobe.2015.10.014. Epub 2015 Nov 3.

PMID:
26545739
24.

Draft Genome Sequences of 17 French Clostridium botulinum Group III Strains.

Woudstra C, Le Maréchal C, Souillard R, Bayon-Auboyer MH, Mermoud I, Desoutter D, Fach P.

Genome Announc. 2015 Oct 1;3(5). pii: e01105-15. doi: 10.1128/genomeA.01105-15.

25.

Occurrence of C. botulinum in healthy cattle and their environment following poultry botulism outbreaks in mixed farms.

Souillard R, Le Maréchal C, Hollebecque F, Rouxel S, Barbé A, Houard E, Léon D, Poëzévara T, Fach P, Woudstra C, Mahé F, Chemaly M, Le Bouquin S.

Vet Microbiol. 2015 Oct 22;180(1-2):142-5. doi: 10.1016/j.vetmic.2015.07.032. Epub 2015 Jul 29.

PMID:
26298858
26.

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.

PMID:
26297254
27.

Data from an integrative approach decipher the surface proteome of Propionibacterium freudenreichii.

Le Maréchal C, Peton V, Plé C, Vroland C, Jardin J, Briard-Bion V, Durant G, Chuat V, Loux V, Foligné B, Deutsch SM, Falentin H, Jan G.

Data Brief. 2014 Sep 21;1:46-50. doi: 10.1016/j.dib.2014.08.009. eCollection 2014 Dec.

28.

Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.

Rannou F, Uguen A, Scotet V, Le Maréchal C, Rigal O, Marcorelles P, Gobin E, Carré JL, Zagnoli F, Giroux-Metges MA.

PLoS One. 2015 Jul 24;10(7):e0132972. doi: 10.1371/journal.pone.0132972. eCollection 2015.

29.

NRAS (Q61R), BRAF (V600E) immunohistochemistry: a concomitant tool for mutation screening in melanomas.

Uguen A, Talagas M, Costa S, Samaison L, Paule L, Alavi Z, De Braekeleer M, Le Marechal C, Marcorelles P.

Diagn Pathol. 2015 Jul 25;10:121. doi: 10.1186/s13000-015-0359-0.

30.

Severe hydrocephalus caused by diffuse leptomeningeal and neurocutaneous melanocytosis of antenatal onset: a clinical, pathologic, and molecular study of 2 cases.

Uguen A, Laurent C, Samaison L, Boisselier B, Talagas M, Costa S, Aziza J, Mokhtari K, Le Maréchal C, Marcorelles P.

Hum Pathol. 2015 Aug;46(8):1189-96. doi: 10.1016/j.humpath.2015.04.013. Epub 2015 May 13.

PMID:
26037215
31.

A new point mutation in EPOR inducing a short deletion in congenital erythrocytosis.

Chauveau A, Luque Paz D, Lecucq L, Le Gac G, Le Maréchal C, Gueguen P, Berthou C, Ugo V.

Br J Haematol. 2016 Feb;172(3):475-7. doi: 10.1111/bjh.13511. Epub 2015 May 26. No abstract available.

PMID:
26010769
32.

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.

PMID:
25808592
33.

Molecular gene profiling of Clostridium botulinum group III and its detection in naturally contaminated samples originating from various European countries.

Woudstra C, Le Maréchal C, Souillard R, Bayon-Auboyer MH, Anniballi F, Auricchio B, De Medici D, Bano L, Koene M, Sansonetti MH, Desoutter D, Hansbauer EM, Dorner MB, Dorner BG, Fach P.

Appl Environ Microbiol. 2015 Apr;81(7):2495-505. doi: 10.1128/AEM.03915-14. Epub 2015 Jan 30.

34.

Investigation of Clostridium botulinum in commercial poultry farms in France between 2011 and 2013.

Souillard R, Woudstra C, Le Maréchal C, Dia M, Bayon-Auboyer MH, Chemaly M, Fach P, Le Bouquin S.

Avian Pathol. 2014;43(5):458-64. doi: 10.1080/03079457.2014.957644.

PMID:
25175400
35.

Surface proteins of Propionibacterium freudenreichii are involved in its anti-inflammatory properties.

Le Maréchal C, Peton V, Plé C, Vroland C, Jardin J, Briard-Bion V, Durant G, Chuat V, Loux V, Foligné B, Deutsch SM, Falentin H, Jan G.

J Proteomics. 2015 Jan 15;113:447-61. doi: 10.1016/j.jprot.2014.07.018. Epub 2014 Aug 20.

PMID:
25150945
36.

Next-generation sequencing is a credible strategy for blood group genotyping.

Fichou Y, Audrézet MP, Guéguen P, Le Maréchal C, Férec C.

Br J Haematol. 2014 Nov;167(4):554-62. doi: 10.1111/bjh.13084. Epub 2014 Aug 19.

PMID:
25135605
37.

Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study.

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.

PLoS One. 2013 Dec 5;8(12):e81128. doi: 10.1371/journal.pone.0081128. eCollection 2013.

38.

A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.

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.

PLoS One. 2013 Sep 17;8(9):e74728. doi: 10.1371/journal.pone.0074728. eCollection 2013.

39.

Identifying risk factors for eggshell contamination by Bacillus cereus group bacteria in French laying farms.

Kone AZ, Jan S, Le Marechal C, Grosset N, Gautier M, Puterflam J, Baron F.

Br Poult Sci. 2013 Jun;54(3):298-305. doi: 10.1080/00071668.2013.783900. Epub 2013 May 7.

PMID:
23650940
40.

A convenient qualitative and quantitative method to investigate RHD-RHCE hybrid genes.

Fichou Y, Le Maréchal C, Bryckaert L, Dupont I, Jamet D, Chen JM, Férec C.

Transfusion. 2013 Nov;53(11 Suppl 2):2974-82. doi: 10.1111/trf.12179. Epub 2013 Apr 3.

PMID:
23550903
41.

Staphylococcus aureus proteins differentially produced in ewe gangrenous mastitis or ewe milk.

Le Maréchal C, Jardin J, Briard-Bion V, Rault L, Berkova N, Vautor E, Thiéry R, Even S, Le Loir Y.

Vet Microbiol. 2013 May 31;164(1-2):150-7. doi: 10.1016/j.vetmic.2013.01.013. Epub 2013 Jan 30.

PMID:
23415898
42.

Establishment of a medium-throughput approach for the genotyping of RHD variants and report of nine novel rare alleles.

Fichou Y, Le Maréchal C, Jamet D, Bryckaert L, Ka C, Audrézet MP, Le Gac G, Dupont I, Chen JM, Férec C.

Transfusion. 2013 Aug;53(8):1821-8. doi: 10.1111/trf.12009. Epub 2012 Dec 11.

PMID:
23228153
43.

Genome sequence of Staphylococcus aureus Newbould 305, a strain associated with mild bovine mastitis.

Bouchard D, Peton V, Almeida S, Le Maréchal C, Miyoshi A, Azevedo V, Berkova N, Rault L, François P, Schrenzel J, Even S, Hernandez D, Le Loir Y.

J Bacteriol. 2012 Nov;194(22):6292-3. doi: 10.1128/JB.01188-12.

44.

Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanisms.

Chen JM, Fichou Y, Jamet D, Dupont I, Cooper DN, Le Maréchal C, Férec C.

Transfusion. 2013 Jan;53(1):206-10. doi: 10.1111/j.1537-2995.2012.03713.x. Epub 2012 May 21.

PMID:
22612274
45.

Weak D caused by a founder deletion in the RHD gene.

Fichou Y, Chen JM, Le Maréchal C, Jamet D, Dupont I, Chuteau C, Durousseau C, Loirat MJ, Bailly P, Férec C.

Transfusion. 2012 Nov;52(11):2348-55. doi: 10.1111/j.1537-2995.2012.03606.x. Epub 2012 Mar 15.

PMID:
22420867
46.

Staphylococcus aureus proteins differentially recognized by the ovine immune response in mastitis or nasal carriage.

Seyffert N, Le Maréchal C, Jardin J, McCulloch JA, Rosado FR, Miyoshi A, Even S, Jan G, Berkova N, Vautor E, Thiéry R, Azevedo V, Le Loir Y.

Vet Microbiol. 2012 Jun 15;157(3-4):439-47. doi: 10.1016/j.vetmic.2012.01.016. Epub 2012 Jan 25.

PMID:
22342493
47.

Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).

Guéguen P, Chauvin A, Quémener-Redon S, Pan-Petesch B, Férec C, Abgrall JF, Le Maréchal C.

Thromb Haemost. 2012 Jan;107(1):44-50. doi: 10.1160/TH11-06-0415. Epub 2011 Dec 8.

48.

Molecular basis of virulence in Staphylococcus aureus mastitis.

Le Maréchal C, Seyffert N, Jardin J, Hernandez D, Jan G, Rault L, Azevedo V, François P, Schrenzel J, van de Guchte M, Even S, Berkova N, Thiéry R, Fitzgerald JR, Vautor E, Le Loir Y.

PLoS One. 2011;6(11):e27354. doi: 10.1371/journal.pone.0027354. Epub 2011 Nov 11.

49.

Variant screening of the RHD gene in a large cohort of subjects with D phenotype ambiguity: report of 17 novel rare alleles.

Fichou Y, Le Maréchal C, Bryckaert L, Guerry C, Bénech C, Dupont I, Jamet D, Férec C, Chen JM.

Transfusion. 2012 Apr;52(4):759-64. doi: 10.1111/j.1537-2995.2011.03350.x. Epub 2011 Sep 26. Erratum in: Transfusion. 2012 Aug;52(8):1842.

PMID:
21950494
50.

Genome sequences of two Staphylococcus aureus ovine strains that induce severe (strain O11) and mild (strain O46) mastitis.

Le Maréchal C, Hernandez D, Schrenzel J, Even S, Berkova N, Thiéry R, Vautor E, Fitzgerald JR, François P, Le Loir Y.

J Bacteriol. 2011 May;193(9):2353-4. doi: 10.1128/JB.00045-11. Epub 2011 Mar 11.

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