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

277 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C. Marsh AP, et al. Among authors: mignot c. Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250454 Free PMC article.
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
[Fetal neurology: conditions of diagnostic uncertainty].
Moutard ML, Gélot A, Rodriguez D, Guët A, Mignot C, Ponsot G, Billette de Villemeur T. Moutard ML, et al. Among authors: mignot c. Arch Pediatr. 2006 Jun;13(6):825-7. doi: 10.1016/j.arcped.2006.03.128. Epub 2006 May 12. Arch Pediatr. 2006. PMID: 16698255 French. No abstract available.
Early neurological phenotype in 4 children with biallelic PRODH mutations.
Afenjar A, Moutard ML, Doummar D, Guët A, Rabier D, Vermersch AI, Mignot C, Burglen L, Heron D, Thioulouse E, de Villemeur TB, Campion D, Rodriguez D. Afenjar A, et al. Among authors: mignot c. Brain Dev. 2007 Oct;29(9):547-52. doi: 10.1016/j.braindev.2007.01.008. Epub 2007 Apr 6. Brain Dev. 2007. PMID: 17412540
Microcephaly: a radiological review.
Tarrant A, Garel C, Germanaud D, de Villemeur TB, Mignot C, Lenoir M, le Pointe HD. Tarrant A, et al. Among authors: mignot c. Pediatr Radiol. 2009 Aug;39(8):772-80; quiz 888-9. doi: 10.1007/s00247-009-1266-x. Epub 2009 May 13. Pediatr Radiol. 2009. PMID: 19437006 Review.
[Diagnostic investigations for an unexplained developmental disability].
Verloes A, Héron D, Billette de Villemeur T, Afenjar A, Baumann C, Bahi-Buisson N, Charles P, Faudet A, Jacquette A, Mignot C, Moutard ML, Passemard S, Rio M, Robel L, Rougeot C, Ville D, Burglen L, des Portes V; Réseau DéfiScience. Verloes A, et al. Among authors: mignot c. Arch Pediatr. 2012 Feb;19(2):194-207. doi: 10.1016/j.arcped.2011.11.014. Epub 2012 Jan 14. Arch Pediatr. 2012. PMID: 22245660 French.
Retinal involvement in two unrelated patients with Myhre syndrome.
Al Ageeli E, Mignot C, Afenjar A, Whalen S, Dorison N, Mayer M, Esteva B, Dubern B, Momtchilova M, Le Gargasson JF, Bursztyn J, Héron D. Al Ageeli E, et al. Among authors: mignot c. Eur J Med Genet. 2012 Oct;55(10):541-7. doi: 10.1016/j.ejmg.2012.05.006. Epub 2012 Jun 7. Eur J Med Genet. 2012. PMID: 22683461
277 results