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

11 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.
Khatri D, Putoux A, Cologne A, Kaltenbach S, Besson A, Bertiaux E, Guguin J, Fendler A, Dupont MA, Benoit-Pilven C, Qebibo L, Ahmed-Elie S, Audebert-Bellanger S, Blanc P, Rambaud T, Castelle M, Cornen G, Grotto S, Guët A, Guibaud L, Michot C, Odent S, Ruaud L, Sacaze E, Hamel V, Bordonné R, Leutenegger AL, Edery P, Burglen L, Attié-Bitach T, Mazoyer S, Delous M. Khatri D, et al. Among authors: sacaze e. Proc Natl Acad Sci U S A. 2023 Feb 28;120(9):e2102569120. doi: 10.1073/pnas.2102569120. Epub 2023 Feb 21. Proc Natl Acad Sci U S A. 2023. PMID: 36802443 Free PMC article.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
Brock S, Laquerriere A, Marguet F, Myers SJ, Hongjie Y, Baralle D, Vanderhasselt T, Stouffs K, Keymolen K, Kim S, Allen J, Shaulsky G, Chelly J, Marcorelle P, Aziza J, Villard L, Sacaze E, de Wit MCY, Wilke M, Mancini GMS, Hehr U, Lim D, Mansour S, Traynelis SF, Beneteau C, Denis-Musquer M, Jansen AC, Fry AE, Bahi-Buisson N. Brock S, et al. Among authors: sacaze e. J Med Genet. 2023 Feb;60(2):183-192. doi: 10.1136/jmedgenet-2021-107971. Epub 2022 Apr 7. J Med Genet. 2023. PMID: 35393335 Free PMC article.
Laboratory medicine unveiling an unusual cause of D-lactic acidosis as the trigger of decompensation of a rare inborn error of metabolism.
Lefèvre CR, Sacaze E, Damaj L, Rollier P, Lenski M, Le Stradic C, Bendavid C, Reynier P, Dieu X, Prunier D, Moreau C, Homedan C. Lefèvre CR, et al. Among authors: sacaze e. Clin Chem Lab Med. 2023 Jun 19;61(12):e263-e267. doi: 10.1515/cclm-2023-0425. Print 2023 Nov 27. Clin Chem Lab Med. 2023. PMID: 37327352 No abstract available.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R; YWHAG Study Group. Cetica V, et al. Epilepsia. 2024 May;65(5):1439-1450. doi: 10.1111/epi.17939. Epub 2024 Mar 16. Epilepsia. 2024. PMID: 38491959
3q29 duplications: A cohort of 46 patients and a literature review.
Massier M, Doco-Fenzy M, Egloff M, Le Guillou X, Le Guyader G, Redon S, Benech C, Le Millier K, Uguen K, Ropars J, Sacaze E, Audebert-Bellanger S, Apetrei A, Molin A, Gruchy N, Vincent-Devulder A, Spodenkiewicz M, Jacquin C, Loron G, Thibaud M, Delplancq G, Brisset S, Lesieur-Sebellin M, Malan V, Romana S, Rio M, Marlin S, Amiel J, Marquet V, Dauriat B, Moradkhani K, Mercier S, Isidor B, Arpin S, Pujalte M, Jedraszak G, Pebrel-Richard C, Salaun G, Laffargue F, Boudjarane J, Missirian C, Chelloug N, Toutain A, Chiesa J, Keren B, Mignot C, Gouy E, Jaillard S, Landais E, Poirsier C. Massier M, et al. Among authors: sacaze e. Am J Med Genet A. 2024 Feb 29:e63531. doi: 10.1002/ajmg.a.63531. Online ahead of print. Am J Med Genet A. 2024. PMID: 38421086
A Hemimotor Deficit in an 18-Month-Old Boy Revealing Acute Myelitis.
Gelebart C, Sacaze E, Peudenier S, Legeas O, Ropars J. Gelebart C, et al. Among authors: sacaze e. Neuropediatrics. 2019 Oct;50(5):332-333. doi: 10.1055/s-0039-1684051. Epub 2019 Apr 22. Neuropediatrics. 2019. PMID: 31009954 No abstract available.
From childhood to adulthood: health care use in individuals with cerebral palsy.
Roquet M, Garlantezec R, Remy-Neris O, Sacaze E, Gallien P, Ropars J, Houx L, Pons C, Brochard S. Roquet M, et al. Among authors: sacaze e. Dev Med Child Neurol. 2018 Dec;60(12):1271-1277. doi: 10.1111/dmcn.14003. Epub 2018 Aug 31. Dev Med Child Neurol. 2018. PMID: 30171608 Free article.
11 results