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
1998 1
2000 4
2001 3
2002 1
2003 1
2004 1
2009 2
2010 1
2014 2
2019 1
2020 3
2021 1
2022 2
2023 2
2024 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

25 results

Results by year

Filters applied: . Clear all
Page 1
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Wojcik MH, et al. Among authors: demetriou k. Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183572 Free PMC article.
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
Celse T, Tingaud-Sequeira A, Dieterich K, Siegfried G, Lecaignec C, Bouneau L, Fannemel M, Salaun G, Laffargue F, Martinez G, Satre V, Vieville G, Bidart M, Soussi Zander C, Turesson AC, Splitt M, Reboul D, Chiesa J, Khau Van Kien P, Godin M, Gruchy N, Goel H, Palmer E, Demetriou K, Shalhoub C, Rooryck C, Coutton C. Celse T, et al. Among authors: demetriou k. J Med Genet. 2023 Jun;60(6):620-626. doi: 10.1136/jmg-2022-108678. Epub 2022 Nov 11. J Med Genet. 2023. PMID: 36368868
Indolent systemic mastocytosis mimicking Crohn's disease.
Hadjivasilis A, Ioakim KJ, Neocleous A, Demetriou K, Panjiyar S, Iacovou F, Michaelides D, Potamitis G. Hadjivasilis A, et al. Among authors: demetriou k. Ann Gastroenterol. 2019 Mar-Apr;32(2):208-210. doi: 10.20524/aog.2018.0342. Epub 2019 Jan 2. Ann Gastroenterol. 2019. PMID: 30872912 Free PMC article.
Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia.
Demetriou K, Nisbet J, Coman D, Ewing AD, Phillips L, Smith S, Lipke M, Inwood A, Spicer J, Atthow C, Wilgen U, Robertson T, McWhinney A, Swenson R, Espley B, Snowdon B, McGill JJ, Summers KM. Demetriou K, et al. Mol Genet Metab. 2024 Aug;142(4):108516. doi: 10.1016/j.ymgme.2024.108516. Epub 2024 Jun 17. Mol Genet Metab. 2024. PMID: 38941880 Free article.
Genetic variation of DKK3 may modify renal disease severity in ADPKD.
Liu M, Shi S, Senthilnathan S, Yu J, Wu E, Bergmann C, Zerres K, Bogdanova N, Coto E, Deltas C, Pierides A, Demetriou K, Devuyst O, Gitomer B, Laakso M, Lumiaho A, Lamnissou K, Magistroni R, Parfrey P, Breuning M, Peters DJ, Torra R, Winearls CG, Torres VE, Harris PC, Paterson AD, Pei Y. Liu M, et al. Among authors: demetriou k. J Am Soc Nephrol. 2010 Sep;21(9):1510-20. doi: 10.1681/ASN.2010030237. Epub 2010 Jul 8. J Am Soc Nephrol. 2010. PMID: 20616171 Free PMC article.
Quantification of Retinal Nonperfusion and Neovascularization With Ultrawidefield Fluorescein Angiography in Patients With Diabetes and Associated Characteristics of Advanced Disease.
Yu G, Aaberg MT, Patel TP, Iyengar RS, Powell C, Tran A, Miranda C, Young E, Demetriou K, Devisetty L, Paulus YM. Yu G, et al. Among authors: demetriou k. JAMA Ophthalmol. 2020 Jun 1;138(6):680-688. doi: 10.1001/jamaophthalmol.2020.1257. JAMA Ophthalmol. 2020. PMID: 32352506 Free PMC article.
25 results