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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

284 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
PAM variants in patients with thyrotrophinomas, cyclical Cushing's disease and prolactinomas.
De Sousa SMC, Shen A, Yates CJ, Clifton-Bligh R, Santoreneos S, King J, Toubia J, Trivellin G, Lania AG, Stratakis CA, Torpy DJ, Scott HS. De Sousa SMC, et al. Among authors: scott hs. Front Endocrinol (Lausanne). 2023 Nov 23;14:1305606. doi: 10.3389/fendo.2023.1305606. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38075079 Free PMC article.
CBG Santiago: a novel CBG mutation.
Torpy DJ, Lundgren BA, Ho JT, Lewis JG, Scott HS, Mericq V. Torpy DJ, et al. Among authors: scott hs. J Clin Endocrinol Metab. 2012 Jan;97(1):E151-5. doi: 10.1210/jc.2011-2022. Epub 2011 Oct 19. J Clin Endocrinol Metab. 2012. PMID: 22013108
Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.
De Sousa SMC, Wu KHC, Colclough K, Rawlings L, Dubowsky A, Monnik M, Poplawski N, Scott HS, Horowitz M, Torpy DJ. De Sousa SMC, et al. Among authors: scott hs. Acta Diabetol. 2024 Feb;61(2):181-188. doi: 10.1007/s00592-023-02193-x. Epub 2023 Oct 9. Acta Diabetol. 2024. PMID: 37812285 Free PMC article.
ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II).
De Sousa SMC, Stowasser M, Feng J, Schreiber AW, Wang P, Hahn CN, Gordon RD, Torpy DJ, Scott HS, Gagliardi L. De Sousa SMC, et al. Among authors: scott hs. J Hum Hypertens. 2017 Dec;31(12):857-859. doi: 10.1038/jhh.2017.71. Epub 2017 Oct 12. J Hum Hypertens. 2017. PMID: 29022889 No abstract available.
RNA-Based Targeted Gene Sequencing Improves the Diagnostic Yield of Mutant Detection in Chronic Myeloid Leukemia.
Shanmuganathan N, Wadham C, Thomson D, Shahrin NH, Vignaud C, Obourn V, Chaturvedi S, Yang F, Feng J, Saunders V, Kok CH, Yeung D, King RM, Kenyon RR, Lin M, Wang P, Scott H, Hughes T, Schreiber AW, Branford S. Shanmuganathan N, et al. J Mol Diagn. 2022 Jul;24(7):803-822. doi: 10.1016/j.jmoldx.2022.04.004. Epub 2022 May 10. J Mol Diagn. 2022. PMID: 35550185 Free article.
Impact of additional genetic abnormalities at diagnosis of chronic myeloid leukemia for first-line imatinib-treated patients receiving proactive treatment intervention.
Shanmuganathan N, Wadham C, Shahrin N, Feng J, Thomson D, Wang P, Saunders V, Kok CH, King RM, Kenyon RR, Lin M, Pagani IS, Ross DM, Yong ASM, Grigg AP, Mills AK, Schwarer AP, Braley J, Altamura H, Yeung DT, Scott HS, Schreiber AW, Hughes TP, Branford S. Shanmuganathan N, et al. Among authors: scott hs. Haematologica. 2023 Sep 1;108(9):2380-2395. doi: 10.3324/haematol.2022.282184. Haematologica. 2023. PMID: 36951160 Free PMC article.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, Bennetts… See abstract for full author list ➔ Bournazos AM, et al. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion gene.
Ross DM, Altamura HK, Hahn CN, Nicola M, Yeoman AL, Holloway MR, Geoghegan J, Feng J, Schreiber AW, Branford S, Moore S, Scott HS. Ross DM, et al. Among authors: scott hs. Leukemia. 2016 Jun;30(6):1402-5. doi: 10.1038/leu.2015.301. Epub 2015 Oct 27. Leukemia. 2016. PMID: 26503642 No abstract available.
284 results