Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1997 3
1999 4
2000 1
2001 4
2002 2
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
2018 8
2019 5
2020 6
2021 8
2022 3
2023 6
2024 2
2025 4

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

120 results

Results by year

Filters applied: . Clear all
Page 1
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
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.
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.
Adrenocortical development, maintenance, and disease.
Yates R, Katugampola H, Cavlan D, Cogger K, Meimaridou E, Hughes C, Metherell L, Guasti L, King P. Yates R, et al. Among authors: metherell l. Curr Top Dev Biol. 2013;106:239-312. doi: 10.1016/B978-0-12-416021-7.00007-9. Curr Top Dev Biol. 2013. PMID: 24290352 Review.
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. Among authors: metherell la. 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.
ACTH resistance: genes and mechanisms.
Meimaridou E, Hughes CR, Kowalczyk J, Chan LF, Clark AJ, Metherell LA. Meimaridou E, et al. Among authors: metherell la. Endocr Dev. 2013;24:57-66. doi: 10.1159/000342504. Epub 2013 Feb 1. Endocr Dev. 2013. PMID: 23392095 Review.
120 results