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101 results

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Page 1
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Among authors: douzgou s. Am J Hum Genet. 2023 Jan 5;110(1):120-145. doi: 10.1016/j.ajhg.2022.11.011. Epub 2022 Dec 16. Am J Hum Genet. 2023. PMID: 36528028 Free PMC article.
Germline selection shapes human mitochondrial DNA diversity.
Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot; Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF. Wei W, et al. Science. 2019 May 24;364(6442):eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23. Science. 2019. PMID: 31123110 Free article.
Dysmorphology at a distance: results of a web-based diagnostic service.
Douzgou S, Clayton-Smith J, Gardner S, Day R, Griffiths P, Strong K; DYSCERNE expert panel. Douzgou S, et al. Eur J Hum Genet. 2014 Mar;22(3):327-32. doi: 10.1038/ejhg.2013.137. Epub 2013 Jul 10. Eur J Hum Genet. 2014. PMID: 23838594 Free PMC article.
Epistasis between dopamine regulating genes identifies a nonlinear response of the human hippocampus during memory tasks.
Bertolino A, Di Giorgio A, Blasi G, Sambataro F, Caforio G, Sinibaldi L, Latorre V, Rampino A, Taurisano P, Fazio L, Romano R, Douzgou S, Popolizio T, Kolachana B, Nardini M, Weinberger DR, Dallapiccola B. Bertolino A, et al. Among authors: douzgou s. Biol Psychiatry. 2008 Aug 1;64(3):226-34. doi: 10.1016/j.biopsych.2008.02.001. Epub 2008 Mar 28. Biol Psychiatry. 2008. PMID: 18374902
Silver-Russell syndrome following in vitro fertilization.
Douzgou S, Mingarelli R, Tarani L, De Crescenzo A, Riccio A. Douzgou S, et al. Pediatr Dev Pathol. 2008 Jul-Aug;11(4):329-31. doi: 10.2350/08-04-0458.1. Pediatr Dev Pathol. 2008. PMID: 18494536 No abstract available.
101 results