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

96 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.
Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J, Moilanen JS, Pajunen L, Karhu A, Aaltonen LA. Kaasinen E, et al. Among authors: karhu a. Eur J Med Genet. 2014 Oct;57(10):543-51. doi: 10.1016/j.ejmg.2014.07.002. Epub 2014 Jul 29. Eur J Med Genet. 2014. PMID: 25078763
The clinical and therapeutic profiles of prolactinomas associated with germline pathogenic variants in the aryl hydrocarbon receptor interacting protein (AIP) gene.
Vroonen L, Beckers A, Camby S, Cuny T, Beckers P, Jaffrain-Rea ML, Cogne M, Naves L, Ferriere A, Romanet P, Elenkova A, Karhu A, Brue T, Barlier A, Pétrossians P, Daly AF. Vroonen L, et al. Among authors: karhu a. Front Endocrinol (Lausanne). 2023 Aug 29;14:1242588. doi: 10.3389/fendo.2023.1242588. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37711900 Free PMC article.
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomäki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA; Multiple Leiomyoma Consortium. Tomlinson IP, et al. Among authors: karhu a. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
No fumarate hydratase (FH) mutations in hereditary prostate cancer.
Lehtonen R, Kiuru M, Rökman A, Ikonen T, Cunningham JM, Schaid DJ, Matikainen M, Nupponen NN, Karhu A, Kallioniemi OP, Thibodeau SN, Schleutker J, Aaltonen LA. Lehtonen R, et al. Among authors: karhu a. J Med Genet. 2003 Mar;40(3):e19. doi: 10.1136/jmg.40.3.e19. J Med Genet. 2003. PMID: 12624148 Free PMC article. No abstract available.
Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases.
Laiho P, Hienonen T, Karhu A, Lipton L, Aalto Y, Thomas HJ, Birkenkamp-Demtroder K, Hodgson S, Salovaara R, Mecklin JP, Järvinen H, Knuutila S, Halford S, Ørntoft TF, Tomlinson I, Launonen V, Houlston R, Aaltonen LA. Laiho P, et al. Among authors: karhu a. Oncogene. 2003 Apr 10;22(14):2206-14. doi: 10.1038/sj.onc.1206294. Oncogene. 2003. PMID: 12687022
Little evidence for involvement of MLH3 in colorectal cancer predisposition.
Hienonen T, Laiho P, Salovaara R, Mecklin JP, Järvinen H, Sistonen P, Peltomäki P, Lehtonen R, Nupponen NN, Launonen V, Karhu A, Aaltonen LA. Hienonen T, et al. Among authors: karhu a. Int J Cancer. 2003 Aug 20;106(2):292-6. doi: 10.1002/ijc.11218. Int J Cancer. 2003. PMID: 12800209 Free article.
96 results