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

47 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C. Mignot C, et al. Among authors: saunier a. J Med Genet. 2015 Jan;52(1):61-70. doi: 10.1136/jmedgenet-2014-102748. Epub 2014 Nov 19. J Med Genet. 2015. PMID: 25411445
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
Allou L, Lambert L, Amsallem D, Bieth E, Edery P, Destrée A, Rivier F, Amor D, Thompson E, Nicholl J, Harbord M, Nemos C, Saunier A, Moustaïne A, Vigouroux A, Jonveaux P, Philippe C. Allou L, et al. Among authors: saunier a. Eur J Hum Genet. 2012 Dec;20(12):1216-23. doi: 10.1038/ejhg.2012.127. Epub 2012 Jun 27. Eur J Hum Genet. 2012. PMID: 22739344 Free PMC article.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière JB, Faivre L, Thevenon J. Assoum M, et al. Among authors: saunier a. Am J Hum Genet. 2016 Dec 1;99(6):1368-1376. doi: 10.1016/j.ajhg.2016.10.009. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889060 Free PMC article.
MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies.
Lambert L, Bienvenu T, Allou L, Valduga M, Echenne B, Diebold B, Mignot C, Héron D, Roth V, Saunier A, Moustaïne A, Jonveaux P, Philippe C. Lambert L, et al. Among authors: saunier a. Clin Genet. 2012 Nov;82(5):499-501. doi: 10.1111/j.1399-0004.2012.01861.x. Epub 2012 Mar 26. Clin Genet. 2012. PMID: 22449245 No abstract available.
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivière JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C. Thevenon J, et al. Among authors: saunier a. Clin Genet. 2016 Dec;90(6):509-517. doi: 10.1111/cge.12785. Epub 2016 Apr 29. Clin Genet. 2016. PMID: 27060890 Free PMC article.
Prevention and management of VZV infection during pregnancy and the perinatal period.
Charlier C, Anselem O, Caseris M, Lachâtre M, Tazi A, Driessen M, Pinquier D, Le Cœur C, Saunier A, Bergamelli M, Gibert Vanspranghels R, Chosidow A, Cazanave C, Alain S, Faure K, Birgy A, Dubos F, Lesprit P, Guinaud J, Cohen R, Decousser JW, Grimprel E, Huissoud C, Blanc J, Kayem G, Vuotto F, Vauloup-Fellous C. Charlier C, et al. Among authors: saunier a. Infect Dis Now. 2024 Feb 2;54(4):104857. doi: 10.1016/j.idnow.2024.104857. Online ahead of print. Infect Dis Now. 2024. PMID: 38311003 Free article. No abstract available.
External validation of the PAGE-B score for HCC risk prediction in people living with HIV/HBV coinfection.
Surial B, Ramírez Mena A, Roumet M, Limacher A, Smit C, Leleux O, Mocroft A, van der Valk M, Bonnet F, Peters L, Rockstroh JK, Günthard HF, Berzigotti A, Rauch A, Wandeler G; Swiss HIV Cohort Study; ATHENA Observational Cohort Study; EuroSIDA; ANRS CO3 Aquitaine Cohort. Surial B, et al. J Hepatol. 2023 May;78(5):947-957. doi: 10.1016/j.jhep.2022.12.029. Epub 2023 Jan 21. J Hepatol. 2023. PMID: 36690280 Free article.
47 results