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Page 1
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Eggers S, et al. Among authors: leong gm. Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. Genome Biol. 2016. PMID: 27899157 Free PMC article.
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Van Esch H, Colnaghi R, Freson K, Starokadomskyy P, Zankl A, Backx L, Abramowicz I, Outwin E, Rohena L, Faulkner C, Leong GM, Newbury-Ecob RA, Challis RC, Õunap K, Jaeken J, Seuntjens E, Devriendt K, Burstein E, Low KJ, O'Driscoll M. Van Esch H, et al. Among authors: leong gm. Am J Hum Genet. 2019 May 2;104(5):957-967. doi: 10.1016/j.ajhg.2019.03.006. Epub 2019 Apr 18. Am J Hum Genet. 2019. PMID: 31006512 Free PMC article.
Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus.
Chitturi S, Harris M, Thomsett MJ, Bowling F, McGown I, Cowley D, Leong GM, Batch J, Cotterill AM. Chitturi S, et al. Among authors: leong gm. Clin Endocrinol (Oxf). 2008 Dec;69(6):926-30. doi: 10.1111/j.1365-2265.2008.03303.x. Epub 2008 May 20. Clin Endocrinol (Oxf). 2008. PMID: 18494865
63 results