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Page 1
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Nicolas G, Zaréa A, Lacour M, Quenez O, Rousseau S, Richard AC, Bonnevalle A, Schramm C, Olaso R, Sandron F, Boland A, Deleuze JF, Andriuta D, Anthony P, Auriacombe S, Balageas AC, Ballan G, Barbay M, Béjot Y, Belliard S, Benaiteau M, Bennys K, Bombois S, Boutoleau-Bretonnière C, Branger P, Carlier J, Cartz-Piver L, Cassagnaud P, Ceccaldi MP, Chauviré V, Chen Y, Cogez J, Cognat E, Contegal-Callier F, Corneille L, Couratier P, Cretin B, Crinquette C, Dauriat B, Dautricourt S, de la Sayette V, de Liège A, Deffond D, Demurger F, Deramecourt V, Derollez C, Dionet E, Doco Fenzy M, Dumurgier J, Dutray A, Etcharry-Bouyx F, Formaglio M, Gabelle A, Gainche-Salmon A, Godefroy O, Graber M, Gregoire C, Grimaldi S, Gueniat J, Gueriot C, Guillet-Pichon V, Haffen S, Hanta CR, Hardy C, Hautecloque G, Heitz C, Hourregue C, Jonveaux T, Jurici S, Koric L, Krolak-Salmon P, Lagarde J, Lanoiselée HM, Laurens B, Le Ber I, Le Guyader G, Leblanc A, Lebouvier T, Levy R, Lippi A, Mackowiak MA, Magnin E, Marelli C, Martinaud O, Maureille A, Migliaccio R, Milongo-Rigal E, Mohr S, Mollion H, Morin A, Nivelle J, Noiray C, Olivieri P, Paquet C, Pariente J, Pasquier F, Perron A, Philippi N, Planche V, Pouclet-Cou… See abstract for full author list ➔ Nicolas G, et al. Among authors: thomas q. Genet Med. 2024 May;26(5):101082. doi: 10.1016/j.gim.2024.101082. Epub 2024 Jan 24. Genet Med. 2024. PMID: 38281098 Free article.
Opsoclonus and Neuroborreliosis: Can't See the Forest for the Trees.
Sauvant M, Thomas Q, Mohr S, Blanc-Labarre C, Béjot Y, Delpont B. Sauvant M, et al. Among authors: thomas q. Neurol Clin Pract. 2021 Feb;11(1):e6-e7. doi: 10.1212/CPJ.0000000000000824. Neurol Clin Pract. 2021. PMID: 33968479 Free PMC article. No abstract available.
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A. Thomas Q, et al. Genet Med. 2021 Oct;23(10):1901-1911. doi: 10.1038/s41436-021-01218-6. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113008 Free article.
[Acute management of spontaneous intracerebral hemorrhage].
Duloquin G, Graber M, Baptiste L, Mohr S, Garnier L, Ndiaye M, Thomas Q, Hervieu-Bègue M, Osseby GV, Giroud M, Béjot Y. Duloquin G, et al. Among authors: thomas q. Rev Med Interne. 2022 May;43(5):293-300. doi: 10.1016/j.revmed.2021.11.004. Epub 2021 Dec 23. Rev Med Interne. 2022. PMID: 34953622 French.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Denommé-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Míguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozières B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin B. Denommé-Pichon AS, et al. Among authors: thomas q. Genet Med. 2023 Jul;25(7):100835. doi: 10.1016/j.gim.2023.100835. Epub 2023 Mar 28. Genet Med. 2023. PMID: 36999555 Free article. Review.
Cerebral Amyloid Angiopathy-Related Inflammation and Biopsy-Positive Primary Angiitis of the CNS: A Comparative Study.
Grangeon L, Boulouis G, Capron J, Bala F, Renard D, Raposo N, Ozkul-Wermester O, Triquenot-Bagan A, Ayrignac X, Wallon D, Gerardin E, Kerschen P, Sablot D, Formaglio M, Pico F, Turc G, Verny M, Humbertjean L, Gaudron M, Vannier S, Dequatre N, Guillon B, Isabel C, Arquizan C, Detante O, Godard S, Casolla B, Levraut M, Gollion C, Gerfaud-Valentin M, Kremer L, Daelman L, Lambert N, Lanthier S, Poppe A, Régent A, Weisenburger-Lile D, Verdure P, Quesney G, Vautier M, Wacongne A, Thouvenot E, Pariente J, Coulette S, Labauge PM, Olivier N, Allou T, Zephir H, Néel A, Bresch S, Terrier B, Martinaud O, Schneckenburger R, Papo T, Comarmond-Ortoli C, Jouvent E, Subréville M, Poncet-Megemont L, Khatib MA, Lun F, Henry C, Magnin E, Thomas Q, Graber M, Boukriche Y, Blanchet-Fourcade G, Ratiu D, Pagnoux C, Touzé E, de Boysson H, Alamowitch S, Nehme A. Grangeon L, et al. Among authors: thomas q. Neurology. 2024 Jul 23;103(2):e209548. doi: 10.1212/WNL.0000000000209548. Epub 2024 Jun 20. Neurology. 2024. PMID: 38900992
57 results