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Page 1
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: woods cg. 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.
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER. Aligianis IA, et al. Among authors: woods cg. Nat Genet. 2005 Mar;37(3):221-3. doi: 10.1038/ng1517. Nat Genet. 2005. PMID: 15696165
Micro syndrome in Muslim Pakistan children.
Ainsworth JR, Morton JE, Good P, Woods CG, George ND, Shield JP, Bradbury J, Henderson MJ, Chhina J. Ainsworth JR, et al. Among authors: woods cg. Ophthalmology. 2001 Mar;108(3):491-7. doi: 10.1016/s0161-6420(00)00540-6. Ophthalmology. 2001. PMID: 11237903
Sodium channels Nav1.7, Nav1.8 and pain; two distinct mechanisms for Nav1.7 null analgesia.
Iseppon F, Kanellopoulos AH, Tian N, Zhou J, Caan G, Chiozzi R, Thalassinos K, Çubuk C, Lewis MJ, Cox JJ, Zhao J, Woods CG, Wood JN. Iseppon F, et al. Among authors: woods cg. Neurobiol Pain. 2024 Oct 11;16:100168. doi: 10.1016/j.ynpai.2024.100168. eCollection 2024 Jul-Dec. Neurobiol Pain. 2024. PMID: 39559752 Free PMC article.
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M; Ocular CCDD Phenotyping Consortium; Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. Jurgens JA, et al. Genet Med. 2024 Jul 17:101216. doi: 10.1016/j.gim.2024.101216. Online ahead of print. Genet Med. 2024. PMID: 39033378 Free article.
Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.
Sarveswaran N, Pamela Y, Reddy AAN, Mustari AP, Parthasarathi A, Mancini AJ, Bishnoi A, Inamadar AC, Olabi B, Browne F, Deshmukh GN, McWilliam K, Vinay K, Srinivas S, Ibbs S, Natarajan S, Rao VR, Zawar V, Gowda VK, Shaikh SS, Moss C, Woods CG, Drissi I. Sarveswaran N, et al. Among authors: woods cg. Br J Dermatol. 2024 Aug 14;191(3):437-446. doi: 10.1093/bjd/ljae151. Br J Dermatol. 2024. PMID: 38591490 Free PMC article.
262 results