Bénech C - Search Results

1

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. Fichou Y, et al. Among authors: benech c. Transfusion. 2012 Apr;52(4):759-64. doi: 10.1111/j.1537-2995.2011.03350.x. Epub 2011 Sep 26. Transfusion. 2012. PMID: 21950494

2

Identification of 12 novel RHD alleles in western France by denaturing high-performance liquid chromatography analysis.

Le Maréchal C, Guerry C, Benech C, Burlot L, Cavelier B, Porra V, Delamaire M, Férec C, Chen JM. Le Maréchal C, et al. Among authors: benech c. Transfusion. 2007 May;47(5):858-63. doi: 10.1111/j.1537-2995.2005.00631.x-i1. Transfusion. 2007. PMID: 17465951

3

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. Redon S, et al. Among authors: benech c. Am J Med Genet A. 2017 May;173(5):1444-1446. doi: 10.1002/ajmg.a.38180. Epub 2017 Apr 3. Am J Med Genet A. 2017. PMID: 28371320 No abstract available.

4

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.

Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Tran Mau-Them F, Rondeau S, Elsharkawi I, Granadillo JL, Neidich J, Soares CA, Tkachenko N, M Amudhavalli S, Engleman K, Boland A, Deleuze JF, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Le Marechal C, Ferec C, Repnikova E, Cao Y. Uguen K, et al. Among authors: benech c. Clin Genet. 2021 Oct;100(4):386-395. doi: 10.1111/cge.14015. Epub 2021 Jun 28. Clin Genet. 2021. PMID: 34164801

5

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: benech c. Hum Genomics. 2021 Jul 13;15(1):44. doi: 10.1186/s40246-021-00342-3. Hum Genomics. 2021. PMID: 34256850 Free PMC article.

6

High-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathies.

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. Quillé ML, et al. Among authors: benech c. PLoS One. 2011;6(9):e25181. doi: 10.1371/journal.pone.0025181. Epub 2011 Sep 22. PLoS One. 2011. PMID: 21966449 Free PMC article.

7

Characterization of two deletions of the CTRC locus.

Masson E, Hammel P, Garceau C, Bénech C, Quéméner-Redon S, Chen JM, Férec C. Masson E, et al. Among authors: benech c. Mol Genet Metab. 2013 Jul;109(3):296-300. doi: 10.1016/j.ymgme.2013.04.022. Epub 2013 May 10. Mol Genet Metab. 2013. PMID: 23721890

8

A small de novo 16q24.1 duplication in a woman with severe clinical features.

Quéméner-Redon S, Bénech C, Audebert-Bellanger S, Friocourt G, Planes M, Parent P, Férec C. Quéméner-Redon S, et al. Among authors: benech c. Eur J Med Genet. 2013 Apr;56(4):211-5. doi: 10.1016/j.ejmg.2013.01.001. Epub 2013 Jan 17. Eur J Med Genet. 2013. PMID: 23333879 Free article.

9

Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

Audrézet MP, Cornec-Le Gall E, Chen JM, Redon S, Quéré I, Creff J, Bénech C, Maestri S, Le Meur Y, Férec C. Audrézet MP, et al. Among authors: benech c. Hum Mutat. 2012 Aug;33(8):1239-50. doi: 10.1002/humu.22103. Epub 2012 May 24. Hum Mutat. 2012. PMID: 22508176

10

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.

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. Quemener S, et al. Among authors: benech c. Hum Mutat. 2010 Apr;31(4):421-8. doi: 10.1002/humu.21196. Hum Mutat. 2010. PMID: 20052766 Free PMC article.

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