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1Academic Journal
المؤلفون: 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
مصطلحات موضوعية: Endocrinology, Genetics, Growth factors, Molecular genetics, Animals, Humans, Mice, Base Sequence, Growth Disorders, HMGA2 Protein, Phenotype, Silver-Russell Syndrome
Relation: JCI Insight; Published in Volume 9, Issue 6 on March 22, 2024 JCI Insight. 2024;9(6):e169425. https://doi.org/10.1172/jci.insight.169425. © 2024 Maharaj et al. This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.; https://qmro.qmul.ac.uk/xmlui/handle/123456789/97695
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2Academic Journal
المؤلفون: Maharaj, AV
مصطلحات موضوعية: adrenocorticotropin, hypocortisolaemia, multi-systemic, steroidogenesis, zona fasciculata, Humans, Glucocorticoids, Hydrocortisone, Addison Disease, Thyroid Hormone Resistance Syndrome, Thyrotoxicosis
وصف الملف: 1268345 - ?
Relation: Front Endocrinol (Lausanne); AUTHOR=Maharaj Avinaash V. TITLE=Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome JOURNAL=Frontiers in Endocrinology VOLUME=14 YEAR=2023 URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2023.1268345 DOI=10.3389/fendo.2023.1268345 ISSN=1664-2392 ABSTRACT= Familial Glucocorticoid Deficiency encompasses a broad spectrum of monogenic recessive disorders that theoretically solely abrogate cortisol biosynthesis. In reality, delineating clear genotype-phenotype correlations in this disorder is made complicated by marked phenotypic heterogeneity even within kindreds harbouring identical variants. Phenotypes range from isolated glucocorticoid insufficiency to cortisol deficiency plus a variety of superimposed features including salt-wasting and hypoaldosteronism, primary hypothyroidism, hypogonadism and growth defects. Furthermore, mutation type, domain topology and perceived enzyme activity do not always predict disease severity. Given the high burden of disease and implications of a positive diagnosis, genetic testing is crucial in the management of patients warranting detailed delineation of genomic variants including viable functional studies.; https://qmro.qmul.ac.uk/xmlui/handle/123456789/94960
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3Academic Journal
المؤلفون: Ali, N, Maharaj, AV, Buonocore, F, Achermann, JC, Metherell, LA
مصطلحات موضوعية: primary adrenal insufficiency, isolated glucocorticoid deficiency, STAR, puberty
Relation: FRONTIERS IN ENDOCRINOLOGY; ARTN 860055; https://qmro.qmul.ac.uk/xmlui/handle/123456789/78229
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4Conference
المؤلفون: Chatterjee, S, Rose, SJ, Mushtaq, T, Cottrell, E, Maharaj, AV, Williams, J, Savage, MO, Metherell, LA, Storr, HL
وصف الملف: 111 - 111
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5Academic Journal
المؤلفون: Williams, JL, Paudyal, A, Awad, S, Nicholson, J, Grzesik, D, Botta, J, Meimaridou, E, Maharaj, AV, Stewart, M, Tinker, A, Cox, RD, Metherell, LA
Relation: Life Sci Alliance; Jack L Williams, Anju Paudyal, Sherine Awad, James Nicholson, Dominika Grzesik, Joaquin Botta, Eirini Meimaridou, Avinaash V Maharaj, Michelle Stewart, Andrew Tinker, Roger D Cox, Lou A Metherell Life Science Alliance Mar 2020, 3 (4) e201900593; DOI:10.26508/lsa.201900593; https://qmro.qmul.ac.uk/xmlui/handle/123456789/65421
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6Academic Journal
المؤلفون: Chatterjee, S, Cottrell, E, Rose, SJ, Mushtaq, T, Maharaj, AV, Williams, J, Savage, MO, Metherell, LA, Storr, H
Relation: Endocrine Connections; https://qmro.qmul.ac.uk/xmlui/handle/123456789/64639
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7Academic Journal
المؤلفون: Ming, WKR, Williams, J, Maharaj, AV, Metherell, L, Prasad, R
Relation: Endocrine Abstracts; https://qmro.qmul.ac.uk/xmlui/handle/123456789/85124
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8Academic Journal
المؤلفون: Maitra, S, Smith, C, Hall, C, Read, J, Maharaj, AV, Mariela, MRL, Qamar, Y, Prasad, R, Chan, LF, Metherell, LA
Relation: Endocrine Abstracts; https://qmro.qmul.ac.uk/xmlui/handle/123456789/85120
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9Conference
المؤلفون: Musa, SA, Abdullah, MA, Hassan, SS, Qamar, Y, Hall, C, Maitra, S, Maharaj, AV, Ramirez, LMM, Read, J, Smith, C, Chan, LF, Metherell, LA
وصف الملف: 114 - 115
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10Conference
المؤلفون: Cottrell, E, Maharaj, AV, Triggs-Raine, B, Thanasupawat, T, Williams, J, Fujimoto, M, Metherell, LA, Hwa, V, Klonisch, T, Hombach-Klonisch, S, Storr, HL
وصف الملف: 278 - 278
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11Academic Journal
المؤلفون: Smith, C, Maharaj, AV, Qamar, Y, Read, J, Williams, J, Chan, L, Marimuthu, V, Metherell, L
وصف الملف: a85 - a86
Relation: Journal of the Endocrine Society; https://qmro.qmul.ac.uk/xmlui/handle/123456789/71889
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12Academic Journal
المؤلفون: Wai Kwong, RM, Maharaj, AV, Metherell, L, Prasad, R
وصف الملف: a662 - a662
Relation: Journal of the Endocrine Society; Ruth Ming Wai Kwong, Avinaash Vickram Maharaj, Louise Metherell, Rathi Prasad, Sphingosine 1- Phosphate Lyase Insufficiency Syndrome (SPLIS); A Role in Multiple Endocrinopathies, Journal of the Endocrine Society, Volume 5, Issue Supplement_1, April-May 2021, Page A662, https://doi.org/10.1210/jendso/bvab048.1351; https://qmro.qmul.ac.uk/xmlui/handle/123456789/71901
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13Conference
المؤلفون: Smith, CJ, Maharaj, AV, Prasad, R, Hughes, CR, Clark, AJL, Chan, LF, Metherell, LA
وصف الملف: 108 - 109
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14Academic Journal
المؤلفون: Smith, CJ, Maharaj, AV, Prasad, R, Hughes, C, Qamar, Y, Clark, AJL, Chan, LF, Metherell, LA
المصدر: Endocrine Abstracts ; ISSN 1479-6848
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15Dissertation/ Thesis
المؤلفون: Maharaj, Avani
Thesis Advisors: Kaliski, Sean
مصطلحات موضوعية: Psychiatry
وصف الملف: application/pdf
الاتاحة: http://hdl.handle.net/11427/31140
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16Dissertation/ Thesis
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