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

168 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
Vaurs-Barrière C, Deville M, Sarret C, Giraud G, Des Portes V, Prats-Viñas JM, De Michele G, Dan B, Brady AF, Boespflug-Tanguy O, Touraine R. Vaurs-Barrière C, et al. Among authors: des portes v. Ann Neurol. 2009 Jan;65(1):114-8. doi: 10.1002/ana.21579. Ann Neurol. 2009. PMID: 19194886 Free article.
Ring 14 chromosome presenting as early-onset isolated partial epilepsy.
Ville D, DE Bellescize J, Nguyen MA, Testard H, Gautier A, Perrier J, Till M, DES Portes V. Ville D, et al. Among authors: des portes v. Dev Med Child Neurol. 2009 Nov;51(11):917-22. doi: 10.1111/j.1469-8749.2009.03292.x. Epub 2009 Mar 31. Dev Med Child Neurol. 2009. PMID: 19416318 Free article.
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D. Burglen L, et al. Among authors: des portes v. Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. Orphanet J Rare Dis. 2012. PMID: 22452838 Free PMC article.
Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.
Capri Y, Friesema EC, Kersseboom S, Touraine R, Monnier A, Eymard-Pierre E, Des Portes V, De Michele G, Brady AF, Boespflug-Tanguy O, Visser TJ, Vaurs-Barriere C. Capri Y, et al. Among authors: des portes v. Hum Mutat. 2013 Jul;34(7):1018-25. doi: 10.1002/humu.22331. Epub 2013 May 1. Hum Mutat. 2013. PMID: 23568789
168 results