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Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.
Bonnet M, Roche F, Fagotto-Kaufmann C, Gazdagh G, Truong I, Comunale F, Barbosa S, Bonhomme M, Nafati N, Hunt D, Rodriguez MP, Chaudhry A, Shears D, Madruga M, Vansenne F, Curie A, Kajava AV, Baralle D, Fassier C, Debant A, Schmidt S. Bonnet M, et al. Among authors: gazdagh g. Mol Psychiatry. 2023 Apr;28(4):1527-1544. doi: 10.1038/s41380-023-01963-x. Epub 2023 Jan 30. Mol Psychiatry. 2023. PMID: 36717740
Scientific Business Abstracts of the 113th Annual Meeting of the Association of Physicians of Great Britain and Ireland.
Cacciottolo TM, Perikari A, van der Klaauw A, Henning E, Stadler LKJ, Keogh J, Farooqi IS, Tenin G, Keavney B, Ryan E, Budd R, Bewley M, Coelho P, Rumsey W, Sanchez Y, McCafferty J, Dockrell D, Walmsley S, Whyte M, Liu Y, Choy MK, Tenin G, Abraham S, Black G, Keavney B, Ford T, Stanley B, Good R, Rocchiccioli P, McEntegart M, Watkins S, Eteiba H, Shaukat A, Lindsay M, Robertson K, Hood S, McGeoch R, McDade R, Sidik N, McCartney P, Corcoran D, Collison D, Rush C, McConnachie A, Touyz R, Oldroyd K, Berry C, Gazdagh G, Diver L, Marshall J, McGowan R, Ahmed F; DDD Study; Tobias E, Curtis E, Parsons C, Maslin K, D'Angelo S, Moon R, Crozier S, Gossiel F, Bishop N, Kennedy S, Papageorghiou A, Fraser R, Gandhi S, Prentice A, Inskip H, Godfrey K, Schoenmakers I, Javaid MK, Eastell R, Cooper C, Harvey N, Watt ER, Howden A, Mirchandani A, Coelho P, Hukelmann JL, Sadiku P, Plant TM, Cantrell DA, Whyte MKB, Walmsley SR, Mordi I, Forteath C, Wong A, Mohan M, Palmer C, Doney A, Rena G, Lang C, Gray EH, Azarian S, Riva A, Edwards H, McPhail MJW, Williams R, Chokshi S, Patel VC, Edwards LA, Page D, Miossec M, Williams S, Monaghan R, Fotiou E; CHANGE Study Collaborators, CheartED Study Colla… See abstract for full author list ➔ Cacciottolo TM, et al. Among authors: gazdagh g. QJM. 2019 Sep 1;112(9):724-729. doi: 10.1093/qjmed/hcz175. QJM. 2019. PMID: 31505685 No abstract available.
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Gazdagh G, Hunt D, Gonzalez AMC, Rodriguez MP, Chaudhry A, Madruga M, Vansenne F, Shears D, Curie A, Stattin EL, Anderlid BM, Trajkova S, Angelovska ES, McWilliam C, Wyatt PR, O'Driscoll M, Atton G, Bergman AK, Zacher P, Mewasingh LD, López AG, Alonso-Luengo O, Wai HA, Rohde O, Boiroux P, Debant A, Schmidt S, Baralle D. Gazdagh G, et al. Am J Med Genet A. 2023 Jul;191(7):1722-1740. doi: 10.1002/ajmg.a.63194. Epub 2023 Mar 29. Am J Med Genet A. 2023. PMID: 36987741 Review.
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Kushary ST, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, Brunetti-Pierri N, Cappuccio G, Capra V, Fagerberg CR, Gazdagh G, Guzman E, Hadonou M, Harrison V, Havelund K, Iancu D, Kraus A, Lippa NC, Mansukhani M, McBrian D, McEntagart M, Pacio-Míguez M, Palomares-Bralo M, Pottinger C, Ruivenkamp CAL, Sacco O, Santen GWE, Santos-Simarro F, Scala M, Short J, Sørensen KP, Woods CG; DDD Study; TUDP Consortium; Anyane Yeboa K. Kushary ST, et al. Among authors: gazdagh g. Am J Med Genet A. 2021 Dec;185(12):3740-3753. doi: 10.1002/ajmg.a.62445. Epub 2021 Jul 31. Am J Med Genet A. 2021. PMID: 34331327 Free PMC article.
SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis.
Tobias ES, Lucas-Herald AK, Sagar D, Montezano AC, Rios FJ, De Lucca Camargo L, Hamilton G, Gazdagh G, Diver LA, Williams N, Herzyk P, Touyz RM, Greenfield A, McGowan R, Ahmed SF. Tobias ES, et al. Among authors: gazdagh g. Endocrine. 2024 May;84(2):345-349. doi: 10.1007/s12020-024-03701-x. Epub 2024 Feb 24. Endocrine. 2024. PMID: 38400880
13 results