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New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F, Ramos P, Tarilonte M, Villaverde C, da Silva LRJ, Ballesta-Martínez MJ, Sanchez-Soler MJ, Holt RJ, Cooper-Charles L, Bruty J, Wallis Y, McMullan D, Hoffman J, Bunyan D, Stewart A, Stewart H, Lachlan K; DDD Study; Fryer A, McKay V, Roume J, Dureau P, Saggar A, Griffiths M, Calvas P, Ayuso C, Corton M, Ragge NK. Ceroni F, et al. Among authors: griffiths m. Hum Genet. 2019 Sep;138(8-9):1027-1042. doi: 10.1007/s00439-018-1875-2. Epub 2018 Feb 20. Hum Genet. 2019. PMID: 29464339
An unusually severe phenotype for familial adenomatous polyposis.
Eccles DM, Lunt PW, Wallis Y, Griffiths M, Sandhu B, McKay S, Morton D, Shea-Simonds J, Macdonald F. Eccles DM, et al. Among authors: griffiths m. Arch Dis Child. 1997 Nov;77(5):431-5. doi: 10.1136/adc.77.5.431. Arch Dis Child. 1997. PMID: 9487968 Free PMC article.
Are double translocations double trouble?
Bowser-Riley SM, Griffiths MJ, Creasy MR, Farndon PA, Martin KE, Thomson DA, Larkins SA, Johnson RA, Watt JL. Bowser-Riley SM, et al. Among authors: griffiths mj. J Med Genet. 1988 May;25(5):326-31. doi: 10.1136/jmg.25.5.326. J Med Genet. 1988. PMID: 3290489 Free PMC article. Review.
Terminal deletion (14)(q32.3): a new case.
Telford N, Thomson DA, Griffiths MJ, Ilett S, Watt JL. Telford N, et al. Among authors: griffiths mj. J Med Genet. 1990 Apr;27(4):261-3. doi: 10.1136/jmg.27.4.261. J Med Genet. 1990. PMID: 2182875 Free PMC article. Review.
Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.
Tapper W, Jones AV, Kralovics R, Harutyunyan AS, Zoi K, Leung W, Godfrey AL, Guglielmelli P, Callaway A, Ward D, Aranaz P, White HE, Waghorn K, Lin F, Chase A, Baxter EJ, Maclean C, Nangalia J, Chen E, Evans P, Short M, Jack A, Wallis L, Oscier D, Duncombe AS, Schuh A, Mead AJ, Griffiths M, Ewing J, Gale RE, Schnittger S, Haferlach T, Stegelmann F, Döhner K, Grallert H, Strauch K, Tanaka T, Bandinelli S, Giannopoulos A, Pieri L, Mannarelli C, Gisslinger H, Barosi G, Cazzola M, Reiter A, Harrison C, Campbell P, Green AR, Vannucchi A, Cross NC. Tapper W, et al. Among authors: griffiths m. Nat Commun. 2015 Apr 7;6:6691. doi: 10.1038/ncomms7691. Nat Commun. 2015. PMID: 25849990 Free PMC article.
2,359 results