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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

110 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L. El Chehadeh S, et al. Among authors: lebon s. Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898. Epub 2017 Feb 16. Clin Genet. 2017. PMID: 27761913
G protein-coupled receptor 17 is regulated by WNT pathway during oligodendrocyte precursor cell differentiation.
Boccazzi M, Macchiarulo G, Lebon S, Janowska J, Le Charpentier T, Faivre V, Hua J, Marangon D, Lecca D, Fumagalli M, Mani S, Abbracchio MP, Gressens P, Schang AL, Van Steenwinckel J. Boccazzi M, et al. Among authors: lebon s. Neurobiol Dis. 2023 Oct 15;187:106315. doi: 10.1016/j.nbd.2023.106315. Epub 2023 Sep 30. Neurobiol Dis. 2023. PMID: 37783234 Free article.
Targeting the brain 5-HT7 receptor to prevent hypomyelination in a rodent model of perinatal white matter injuries.
Bokobza C, Jacquens A, Guenoun D, Bianco B, Galland A, Pispisa M, Cruz A, Zinni M, Faivre V, Roumier A, Lebon S, Vitalis T, Csaba Z, Le Charpentier T, Schwendimann L, Young-Ten P, Degos V, Monteiro P, Dournaud P, Gressens P, Van Steenwinckel J. Bokobza C, et al. Among authors: lebon s. J Neural Transm (Vienna). 2023 Mar;130(3):281-297. doi: 10.1007/s00702-022-02556-8. Epub 2022 Nov 6. J Neural Transm (Vienna). 2023. PMID: 36335540 Free PMC article.
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A. Chol M, et al. Among authors: lebon s. J Med Genet. 2003 Mar;40(3):188-91. doi: 10.1136/jmg.40.3.188. J Med Genet. 2003. PMID: 12624137 Free PMC article.
A novel RAB33B mutation in Smith-McCort dysplasia.
Dupuis N, Lebon S, Kumar M, Drunat S, Graul-Neumann LM, Gressens P, El Ghouzzi V. Dupuis N, et al. Among authors: lebon s. Hum Mutat. 2013 Feb;34(2):283-6. doi: 10.1002/humu.22235. Epub 2012 Nov 8. Hum Mutat. 2013. PMID: 23042644 Free article.
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
Bénit P, Steffann J, Lebon S, Chretien D, Kadhom N, de Lonlay P, Goldenberg A, Dumez Y, Dommergues M, Rustin P, Munnich A, Rötig A. Bénit P, et al. Among authors: lebon s. Hum Genet. 2003 May;112(5-6):563-6. doi: 10.1007/s00439-002-0884-2. Epub 2003 Mar 4. Hum Genet. 2003. PMID: 12616398
Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development.
Bouchet C, Steffann J, Corcos J, Monnot S, Paquis V, Rötig A, Lebon S, Levy P, Royer G, Giurgea I, Gigarel N, Benachi A, Dumez Y, Munnich A, Bonnefont JP. Bouchet C, et al. Among authors: lebon s. J Med Genet. 2006 Oct;43(10):788-92. doi: 10.1136/jmg.2005.034140. Epub 2006 May 11. J Med Genet. 2006. PMID: 16690729 Free PMC article.
110 results