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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

96 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng HM, Capper CP, Burgos-Tirado N, Prasad R, Hughes CR, Maudhoo A, Crowne E, Cheetham TD, Brain CE, Suntharalingham JP, Striglioni N, Yuksel B, Gurbuz F, Gupta S, Lindsay R, Couch R, Spoudeas HA, Guran T, Johnson S, Fowler DJ, Conwell LS, McInerney-Leo AM, Drui D, Cariou B, Lopez-Siguero JP, Harris M, Duncan EL, Hindmarsh PC, Auchus RJ, Donaldson MD, Achermann JC, Metherell LA. Maharaj A, et al. J Endocr Soc. 2018 Oct 30;3(1):201-221. doi: 10.1210/js.2018-00130. eCollection 2019 Jan 1. J Endocr Soc. 2018. PMID: 30620006 Free PMC article.
Correction: Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing.
Tiller J, Bakshi A, Dowling G, Keogh L, McInerney-Leo A, Barlow-Stewart K, Boughtwood T, Gleeson P, Delatycki MB, Winship I, Otlowski M, Lacaze P. Tiller J, et al. Eur J Hum Genet. 2024 Mar;32(3):365. doi: 10.1038/s41431-023-01391-z. Eur J Hum Genet. 2024. PMID: 37217628 Free PMC article. No abstract available.
MITF E318K: A rare homozygous case with multiple primary melanoma.
Wallingford CK, Maas EJ, Howard A, DeBortoli E, Bhanja D, Lee K, Mothershaw A, Jagirdar K, Willett R, Betz-Stablein B, Sturm RA, Soyer HP, McInerney-Leo AM. Wallingford CK, et al. Among authors: mcinerney leo am. Pigment Cell Melanoma Res. 2024 Jan;37(1):68-73. doi: 10.1111/pcmr.13122. Epub 2023 Aug 27. Pigment Cell Melanoma Res. 2024. PMID: 37635363
Attitudes of Australian dermatologists on the use of genetic testing: A cross-sectional survey with a focus on melanoma.
Primiero CA, Baker AM, Wallingford CK, Maas EJ, Yanes T, Fowles L, Janda M, Young MA, Nisselle A, Terrill B, Lodge JM, Tiller JM, Lacaze P, Andersen H, McErlean G, Turbitt E, Soyer HP, McInerney-Leo AM. Primiero CA, et al. Front Genet. 2022 Oct 24;13:919134. doi: 10.3389/fgene.2022.919134. eCollection 2022. Front Genet. 2022. PMID: 36353112 Free PMC article.
"Uninsurable because of a genetic test": a qualitative study of consumer views about the use of genetic test results in Australian life insurance.
Muller C, Gallacher L, Keogh L, McInerney-Leo A, Boughtwood T, Gleeson P, Barlow-Stewart K, Delatycki MB, Winship I, Nowak KJ, Otlowski M, Lacaze P, Tiller J. Muller C, et al. Eur J Hum Genet. 2024 Jul;32(7):827-836. doi: 10.1038/s41431-024-01602-1. Epub 2024 Apr 19. Eur J Hum Genet. 2024. PMID: 38637700 Free PMC article.
GOLM1: expanding our understanding of melanoma susceptibility.
Maas EJ, Wallingford CK, DeBortoli E, Smit DJ, Betz-Stablein B, Aoude LG, Stark MS, Sturm RA, Soyer HP, McInerney-Leo AM. Maas EJ, et al. Among authors: mcinerney leo am. J Med Genet. 2023 Sep;60(9):835-837. doi: 10.1136/jmg-2023-109348. Epub 2023 Jul 24. J Med Genet. 2023. PMID: 37487699 No abstract available.
96 results