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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 3
2004 4
2006 3
2007 6
2008 8
2009 2
2010 1
2011 2
2012 5
2013 6
2014 1
2015 7
2016 3
2017 5
2018 3
2019 1
2020 3
2021 7
2022 4
2023 2
2024 1

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69 results

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Page 1
Analysis of genomic CFTR DNA.
Férec C, Le Maréchal C, Audrézet MP, Farinha CM, Amaral MD, Gallati S, Sanz J, Steiner B, Mouchel N, Harris A, Schwarz MJ. Férec C, et al. Among authors: le marechal c. J Cyst Fibros. 2004 Aug;3 Suppl 2:7-10. doi: 10.1016/j.jcf.2004.05.003. J Cyst Fibros. 2004. PMID: 15463917 Free article. Review.
Low incidence of EPOR mutations in idiopathic erythrocytosis.
Filser M, Aral B, Airaud F, Chauveau A, Bruce A, Polfrit Y, Thiebaut A, Gauthier M, Le Maréchal C, Lippert E, Béziau S, Garrec C, Gardie B, Girodon F. Filser M, et al. Among authors: le marechal c. Haematologica. 2021 Jan 1;106(1):299-301. doi: 10.3324/haematol.2019.244160. Haematologica. 2021. PMID: 32165487 Free PMC article. No abstract available.
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
Couloigner L, Planes M, Ka C, Audebert-Bellanger S, Redon S, Benech C, Rouault K, Küry S, Peudenier S, Autret S, Gourlaouen I, Bonneau D, Odent S, Bézieau S, Gilbert-Dussardier B, Toutain A, Boland A, Deleuze JF, Le Marechal C, Le Gac G, Ferec C, Uguen K. Couloigner L, et al. Among authors: le marechal c. Clin Genet. 2023 Mar;103(3):377-379. doi: 10.1111/cge.14270. Epub 2022 Dec 1. Clin Genet. 2023. PMID: 36444497 Review. No abstract available.
The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis.
Burgos M, Philippe R, Antigny F, Buscaglia P, Masson E, Mukherjee S, Dubar P, Le Maréchal C, Campeotto F, Lebonvallet N, Frieden M, Llopis J, Domingo B, Stathopulos PB, Ikura M, Brooks W, Guida W, Chen JM, Ferec C, Capiod T, Mignen O. Burgos M, et al. Among authors: le marechal c. J Cell Sci. 2021 Feb 10;134(3):jcs244012. doi: 10.1242/jcs.244012. J Cell Sci. 2021. PMID: 33468626
Identification of novel variant A alleles within the ABO gene.
Fichou Y, Hennion M, Dupont I, Jamet D, Le Maréchal C, Férec C. Fichou Y, et al. Among authors: le marechal c. Transfusion. 2016 May;56(5):1244-6. doi: 10.1111/trf.13542. Epub 2016 Feb 26. Transfusion. 2016. PMID: 26920498 No abstract available.
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Padhi EM, Hayeck TJ, Cheng Z, Chatterjee S, Mannion BJ, Byrska-Bishop M, Willems M, Pinson L, Redon S, Benech C, Uguen K, Audebert-Bellanger S, Le Marechal C, Férec C, Efthymiou S, Rahman F, Maqbool S, Maroofian R, Houlden H, Musunuri R, Narzisi G, Abhyankar A, Hunter RD, Akiyama J, Fries LE, Ng JK, Mehinovic E, Stong N, Allen AS, Dickel DE, Bernier RA, Gorkin DU, Pennacchio LA, Zody MC, Turner TN. Padhi EM, et al. Among authors: le marechal c. Hum Genomics. 2021 Jul 13;15(1):44. doi: 10.1186/s40246-021-00342-3. Hum Genomics. 2021. PMID: 34256850 Free PMC article.
Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage.
Gourhant L, Bocher O, De Saint Martin L, Ludwig TE, Boland A, Deleuze JF, Merviel P, Dupré PF, Lemarié CA, Couturaud F, Le Maréchal C, Génin E, Pasquier E. Gourhant L, et al. Among authors: le marechal c. Reprod Biomed Online. 2021 Apr;42(4):789-798. doi: 10.1016/j.rbmo.2021.01.008. Epub 2021 Jan 19. Reprod Biomed Online. 2021. PMID: 33658156
69 results