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

276 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Perinatal-lethal Gaucher disease.
Mignot C, Gelot A, Bessières B, Daffos F, Voyer M, Menez F, Fallet Bianco C, Odent S, Le Duff D, Loget P, Fargier P, Costil J, Josset P, Roume J, Vanier MT, Maire I, Billette de Villemeur T. Mignot C, et al. Am J Med Genet A. 2003 Jul 30;120A(3):338-44. doi: 10.1002/ajmg.a.20117. Am J Med Genet A. 2003. PMID: 12838552
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.
Stirnemann J, Vigan M, Hamroun D, Heraoui D, Rossi-Semerano L, Berger MG, Rose C, Camou F, de Roux-Serratrice C, Grosbois B, Kaminsky P, Robert A, Caillaud C, Froissart R, Levade T, Masseau A, Mignot C, Sedel F, Dobbelaere D, Vanier MT, Valayanopoulos V, Fain O, Fantin B, de Villemeur TB, Mentré F, Belmatoug N. Stirnemann J, et al. Among authors: mignot c. Orphanet J Rare Dis. 2012 Oct 9;7:77. doi: 10.1186/1750-1172-7-77. Orphanet J Rare Dis. 2012. PMID: 23046562 Free PMC article.
Gaucher disease.
Mignot C, Gelot A, De Villemeur TB. Mignot C, et al. Handb Clin Neurol. 2013;113:1709-15. doi: 10.1016/B978-0-444-59565-2.00040-X. Handb Clin Neurol. 2013. PMID: 23622393 Review.
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E. Depienne C, et al. Among authors: mignot c. Hum Mutat. 2011 Jan;32(1):E1959-75. doi: 10.1002/humu.21373. Hum Mutat. 2011. PMID: 21053371 Free PMC article.
276 results