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Year Number of Results
2013 2
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Cited In for PMID: 24121232

82 results

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Page 1
Determinants of Disease Penetrance in PRPF31-Associated Retinopathy.
McLenachan S, Zhang D, Grainok J, Zhang X, Huang Z, Chen SC, Zaw K, Lima A, Jennings L, Roshandel D, Moon SY, Heath Jeffery RC, Attia MS, Thompson JA, Lamey TM, McLaren TL, De Roach J, Fletcher S, Chen FK. McLenachan S, et al. Genes (Basel). 2021 Sep 28;12(10):1542. doi: 10.3390/genes12101542. Genes (Basel). 2021. PMID: 34680937 Free PMC article.
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Engel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsmaa EK, Blanc P, Bruno LP, Callewaert B, Capra V, Carullo M, Chesneau B, Coppens S, Curry C, Dale B, Dahlen E, Delahaye-Duriez A, Denommé-Pichon AS, Demeer B, Dvořáková L, Fischer J, Geneviève D, Giacomini T, Handrup MM, Heron D, Hüning I, Iacomino M, Isidor B, Keren B, Kmoch S, Koolen DA, Kübler A, Laštůvková J, Le C, Levy J, Rizzo CL, Maitz S, Marlin S, Mignot C, Mirzaa G, Nagel I, Neuens S, Nosková L, Pao E, Pecková A, Plaisancie J, Porrmann J, Privitera F, Reis A, Renieri A, Rio M, Rippert A, Ryba L, Scala M, Schieving JH, Sherr EH, Shuen A, Sidlow R, Smol T, Soblet J, Striano P, Suri M, Syryn H, Tran Mau-Them F, Travessa AM, Van Gils J, Vasileiou G, Verseput JJA, Vilain C, Vincent-Delorme C, Vyhnálková E, Wakeling EL, Zacher P, Zara F, Kuentz P, Piard J. Engel C, et al. Eur J Hum Genet. 2025 Aug;33(8):989-996. doi: 10.1038/s41431-025-01884-z. Epub 2025 Jun 25. Eur J Hum Genet. 2025. PMID: 40562808
De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
Martin R, Splitt M, Genevieve D, Aten E, Collins A, de Bie CI, Faivre L, Foulds N, Giltay J, Ibitoye R, Joss S, Kennedy J, Kerr B, Kivuva E, Koopmans M, Newbury-Ecob R, Jean-Marçais N, Peeters EAJ, Smithson S, Tomkins S, Tranmauthem F, Piton A, van Haeringen A. Martin R, et al. Eur J Hum Genet. 2019 Nov;27(11):1677-1682. doi: 10.1038/s41431-019-0413-6. Epub 2019 Jun 14. Eur J Hum Genet. 2019. PMID: 31201375 Free PMC article.
Alternative splicing of CNOT7 diversifies CCR4-NOT functions.
Chapat C, Chettab K, Simonet P, Wang P, De La Grange P, Le Romancer M, Corbo L. Chapat C, et al. Nucleic Acids Res. 2017 Aug 21;45(14):8508-8523. doi: 10.1093/nar/gkx506. Nucleic Acids Res. 2017. PMID: 28591869 Free PMC article.
82 results