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Page 1
Isolated glucocorticoid deficiency: Genetic causes and animal models.
Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA, Guasti L. Maharaj A, et al. J Steroid Biochem Mol Biol. 2019 May;189:73-80. doi: 10.1016/j.jsbmb.2019.02.012. Epub 2019 Feb 25. J Steroid Biochem Mol Biol. 2019. PMID: 30817990 Review.
Approach to the Patient With Suspected Silver-Russell Syndrome.
Kurup U, Lim DBN, Palau H, Maharaj AV, Ishida M, Davies JH, Storr HL. Kurup U, et al. Among authors: maharaj av. J Clin Endocrinol Metab. 2024 Sep 16;109(10):e1889-e1901. doi: 10.1210/clinem/dgae423. J Clin Endocrinol Metab. 2024. PMID: 38888172 Free PMC article. Review.
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.
Maharaj A, Kwong R, Williams J, Smith C, Storr H, Krone R, Braslavsky D, Clemente M, Ram N, Banerjee I, Çetinkaya S, Buonocore F, Güran T, Achermann JC, Metherell L, Prasad R. Maharaj A, et al. Endocr Connect. 2022 Jul 25;11(8):e220250. doi: 10.1530/EC-22-0250. Print 2022 Aug 1. Endocr Connect. 2022. PMID: 35904228 Free PMC article. Review.
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
Maharaj AV, Cottrell E, Thanasupawat T, Joustra SD, Triggs-Raine B, Fujimoto M, Kant SG, van der Kaay D, Clement-de Boers A, Brooks AS, Aguirre GA, Martín Del Estal I, Castilla de Cortázar Larrea MI, Massoud A, van Duyvenvoorde HA, De Bruin C, Hwa V, Klonisch T, Hombach-Klonisch S, Storr HL. Maharaj AV, et al. JCI Insight. 2024 Feb 20;9(6):e169425. doi: 10.1172/jci.insight.169425. JCI Insight. 2024. PMID: 38516887 Free PMC article.
Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not.
Williams JL, Paudyal A, Awad S, Nicholson J, Grzesik D, Botta J, Meimaridou E, Maharaj AV, Stewart M, Tinker A, Cox RD, Metherell LA. Williams JL, et al. Among authors: maharaj av. Life Sci Alliance. 2020 Mar 25;3(4):e201900593. doi: 10.26508/lsa.201900593. Print 2020 Apr. Life Sci Alliance. 2020. PMID: 32213617 Free PMC article.
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A, Mushtaq T, Vukovic R, Didi M, Shaw N, Metherell LA, Savage MO, Storr HL. Andrews A, et al. Among authors: maharaj a. J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4716-e4733. doi: 10.1210/clinem/dgab437. J Clin Endocrinol Metab. 2021. PMID: 34136918 Free PMC article.
19 results