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Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.
Colin E, Duffourd Y, Chevarin M, Tisserant E, Verdez S, Paccaud J, Bruel AL, Tran Mau-Them F, Denommé-Pichon AS, Thevenon J, Safraou H, Besnard T, Goldenberg A, Cogné B, Isidor B, Delanne J, Sorlin A, Moutton S, Fradin M, Dubourg C, Gorce M, Bonneau D, El Chehadeh S, Debray FG, Doco-Fenzy M, Uguen K, Chatron N, Aral B, Marle N, Kuentz P, Boland A, Olaso R, Deleuze JF, Sanlaville D, Callier P, Philippe C, Thauvin-Robinet C, Faivre L, Vitobello A. Colin E, et al. Among authors: doco fenzy m. Front Cell Dev Biol. 2023 Feb 28;11:1021920. doi: 10.3389/fcell.2023.1021920. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36926521 Free PMC article.
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
Dard R, Herve B, Leblanc T, de Villartay JP, Collopy L, Vulliami T, Drunat S, Gorde S, Babik A, Souchon PF, Agadr A, Abilkassem R, Elalloussi M, Verloes A, Doco-Fenzy M. Dard R, et al. Pediatr Allergy Immunol. 2017 May;28(3):298-303. doi: 10.1111/pai.12694. Epub 2017 Feb 22. Pediatr Allergy Immunol. 2017. PMID: 28039949 Review. No abstract available.
Report on 3 patients with 12p duplication including GRIN2B.
Poirsier C, Landais E, Bednarek N, Nobecourt JM, Khoury M, Schmidt P, Morville P, Gruson N, Clomes S, Michel N, Riot A, Manjeongean C, Gaillard D, Doco-Fenzy M. Poirsier C, et al. Eur J Med Genet. 2014 Apr;57(5):185-94. doi: 10.1016/j.ejmg.2013.12.009. Epub 2014 Feb 3. Eur J Med Genet. 2014. PMID: 24503147
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
Salian S, Scala M, Nguyen TTM, Severino M, Accogli A, Amadori E, Torella A, Pinelli M, Hudson B, Boothe M, Hurst A, Ben-Omran T, Larsen MJ, Fagerberg CR, Sperling L, Miceikaite I, Herissant L, Doco-Fenzy M, Jennesson M, Nigro V, Striano P, Minetti C, Sachdev RK, Palmer EE, Capra V, Campeau PM. Salian S, et al. Clin Genet. 2021 Nov;100(5):607-614. doi: 10.1111/cge.14033. Epub 2021 Jul 29. Clin Genet. 2021. PMID: 34296759
104 results