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Page 1
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL. Waters AM, et al. J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6. J Med Genet. 2015. PMID: 25564561 Free PMC article.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Thomas AC, Williams H, Setó-Salvia N, Bacchelli C, Jenkins D, O'Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C, Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ, Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P, Straatmaan-Iwanowska A, Baas F, Wood NW, Hersheson J, Houlden H, Hurst J, Scott R, Bitner-Glindzicz M, Moore GE, Sousa SB, Stanier P. Thomas AC, et al. Am J Hum Genet. 2014 Nov 6;95(5):611-21. doi: 10.1016/j.ajhg.2014.10.007. Epub 2014 Nov 6. Am J Hum Genet. 2014. PMID: 25439728 Free PMC article.
UK Foot and Ankle Thromboembolism (UK-FATE).
Mangwani J, Houchen-Wolloff L, Malhotra K, Booth S, Smith A, Teece L, Mason LW; UK FATE Collaborative; UK FATE Collaborative; Shaikh R, Alfred W, Okhifun I, Cinar E, Bua N, Vemulapalli K, Acharya A, Gadd R, Money-Taylor J, Kantharaju R, Bhosale A, Bahri S, Broadbent R, Drummond I, Jones N, Shah S, Ravindrarjah T, Yasen Z, Singh K, Al-Habs R, Jeyaseelan L, Habbiba A, Walker T, Dewhurst M, Glasgow N, Eze D, Carter G, Rajan P, Patil V, Amer O, Malik K, Pavanerathan P, Mallick A, Seferiadis I, Currall V, Sadasivan P, Kumar S, Sanjani SR, Ciaccio M, Ayyaswamy B, Prasad P, Anand M, Sunilraj D, Lane S, Prathap S, Kankate R, Aktselis I, Davda K, Vijapur A, Tayyem M, Chau J, Azhar MS, Sturdee S, Hussain H, Sonde S, Luqman MQ, Farooq R, Wells G, Shenolikar A, Simons M, Hodgson P, Thomas R, Stevens S, Elhassan Y, Adeniyi A, Aspinall W, Joseph V, Day M, Tong A, Joyner C, Alzaranky M, Elhassan O, Chhantyal K, Arora A, Abiddin Z, Kucharski R, Ahmad I, Zeb J, Ishaq U, Thomas J, Jain K, Deol R, Faroug R, Johal K, Mordecai S, Argyropouos M, Chawla A, Ibrahim M, Pereira M, Barr L, Julies E, Hill F, Kapoor S, Bailey J, Mukhopadhyay I, Rana S, Tarig H, Qualaghassi M, Seewoonarian S, Rose B, Crate G, … See abstract for full author list ➔ Mangwani J, et al. Among authors: o sullivan m. Bone Joint J. 2024 Nov 1;106-B(11):1249-1256. doi: 10.1302/0301-620X.106B11.BJJ-2024-0128.R1. Bone Joint J. 2024. PMID: 39481430
1,951 results