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31 results
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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
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.
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
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.
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.
31 results