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Year Number of Results
1988 1
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2000 1
2001 4
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2003 1
2004 3
2005 5
2006 5
2007 8
2008 4
2009 11
2010 8
2011 5
2012 4
2013 5
2014 7
2015 5
2016 3
2017 5
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2019 5
2020 6
2021 8
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121 results

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Page 1
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: metherell la. 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.
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L, Wu X, O'Toole S, Goodchild E, Marker A, Senanayake R, Garg S, Åkerström T, Backman S, Jordan S, Polubothu S, Berney DM, Gluck A, Lines KE, Thakker RV, Tuthill A, Joyce C, Kaski JP, Karet Frankl FE, Metherell LA, Teo AED, Gurnell M, Parvanta L, Drake WM, Wozniak E, Klinzing D, Kuan JL, Tiang Z, Gomez Sanchez CE, Hellman P, Foo RSY, Mein CA, Kinsler VA, Björklund P, Storr HL, Zennaro MC, Brown MJ. Zhou J, et al. Among authors: metherell la. Nat Genet. 2021 Sep;53(9):1360-1372. doi: 10.1038/s41588-021-00906-y. Epub 2021 Aug 12. Nat Genet. 2021. PMID: 34385710 Free PMC article.
Adrenocorticotropin resistance syndromes.
Cooray SN, Chan L, Metherell L, Storr H, Clark AJL. Cooray SN, et al. Among authors: metherell l. Endocr Dev. 2008;13:99-116. doi: 10.1159/000134828. Endocr Dev. 2008. PMID: 18493136 Review.
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: metherell la. 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.
Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Minten T, et al. Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. Epub 2025 May 9. Genet Med. 2025. PMID: 40357684 Free article.
Adrenal Dysfunction in Mitochondrial Diseases.
Corkery-Hayward M, Metherell LA. Corkery-Hayward M, et al. Among authors: metherell la. Int J Mol Sci. 2023 Jan 6;24(2):1126. doi: 10.3390/ijms24021126. Int J Mol Sci. 2023. PMID: 36674647 Free PMC article. Review.
Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.
Loughrey PB, Mothojakan NB, Iacovazzo D, Arni A, Aflorei ED, Arnaldi G, Barlier A, Beckers A, Bizzi MF, Chanson P, Dal J, Daly AF, Dang MN, David A, Andrade MO, Else T, Elston MS, Evans A, Ferrau F, Fica S, Flanagan D, Gadelha MR, Grossman AB, Kapur S, Khoo B, Kumar AV, Kumar-Sinha C, Lechan RM, Ludman M, Metherell LA, Miljic D, Mourougavelou V, Musat M, Occhi G, Owens M, Pascanu I, Pinheiro SVB, Radian S, Ribeiro-Oliveira A, Schöfl C, Patel KA, Hernández-Ramírez LC, Korbonits M. Loughrey PB, et al. Among authors: metherell la. Eur J Endocrinol. 2025 Mar 27;192(4):385-397. doi: 10.1093/ejendo/lvaf044. Eur J Endocrinol. 2025. PMID: 40070360 Free PMC article.
Oxidative stress and adrenocortical insufficiency.
Prasad R, Kowalczyk JC, Meimaridou E, Storr HL, Metherell LA. Prasad R, et al. Among authors: metherell la. J Endocrinol. 2014 Jun;221(3):R63-73. doi: 10.1530/JOE-13-0346. Epub 2014 Mar 12. J Endocrinol. 2014. PMID: 24623797 Free PMC article. Review.
The genetics of ACTH resistance syndromes.
Metherell LA, Chan LF, Clark AJ. Metherell LA, et al. Best Pract Res Clin Endocrinol Metab. 2006 Dec;20(4):547-60. doi: 10.1016/j.beem.2006.09.002. Best Pract Res Clin Endocrinol Metab. 2006. PMID: 17161331 Review.
121 results