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Page 1
The genetic and phenotypic spectrum of GABRB1-related disorders.
Millevert C, Kan ASH, Hanke M, Koko M, Omidvar ME, Hedrich UBS, Wuttke TV, Barišić N, Lagae L, Aledo-Serrano Á, Niehoff EM, Platzer K, Zacher P, Polster T, Dilena R, Monfrini E, Geneviève D, Roubertie A, Bruel AL, Tran Mau-Them F, Dasouki M, Cohen S, Helbig I, Harrison AG, Colin E, Dubbs HA, Marsh ED, Lebon S, He N, Meng H, Chebib M, Møller RS, Marini C, Ahring PK, Lerche H, Weckhuysen S. Millevert C, et al. Among authors: colin e. Brain. 2025 Jun 5:awaf213. doi: 10.1093/brain/awaf213. Online ahead of print. Brain. 2025. PMID: 40472023
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.
Houdayer C, Phillips AM, Chabbert M, Bourreau J, Maroofian R, Houlden H, Richards K, Saadi NW, Dad'ová E, Van Bogaert P, Rupin M, Keren B, Charles P, Smol T, Riquet A, Pais L, O'Donnell-Luria A, VanNoy GE, Bayat A, Møller RS, Olofsson K, Jamra RA, Syrbe S, Dasouki M, Seaver LH, Sullivan JA, Shashi V, Alkuraya FS, Poss AF, Spence JE, Schnur RE, Forster IC, Mckenzie CE, Simons C, Wang M, Snell P, Kothur K, Buckley M, Roscioli T, Elserafy N, Dauriat B, Procaccio V, Henrion D, Lenaers G, Colin E, Verbeek NE, Van Gassen KL, Legendre C, Bonneau D, Reid CA, Howell KB, Ziegler A, Legros C. Houdayer C, et al. Among authors: colin e. Ann Neurol. 2025 Jun 5:10.1002/ana.27277. doi: 10.1002/ana.27277. Online ahead of print. Ann Neurol. 2025. PMID: 40468825
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities.
Gabillard-Lefort C, Martinez CS, Gueguen N, Desquiret-Dumas V, Wery M, Legoff L, Guimier A, Rondeau S, Barcia G, Barnerias C, Cogne B, Besnard T, Lorino E, Douglas J, Bodamer O, Vetro A, Guerrini R, Balestrini S, Conti V, Siri L, Chevrollier A, Bris C, Colin E, Procaccio V, Prunier-Mirebeau D, Lenaers G, Khiati S, Nizon M, Baris OR. Gabillard-Lefort C, et al. Among authors: colin e. Am J Hum Genet. 2025 Jul 3;112(7):1711-1721. doi: 10.1016/j.ajhg.2025.05.004. Epub 2025 May 30. Am J Hum Genet. 2025. PMID: 40449487
The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities.
Rollier P, Cospain A, Barth M, Milon V, Gueguen N, Homedan C, Desquiret V, Bris C, Colin E, Damaj L, Ryckewaert A, Reynier P, Odent S, Amati-Bonneau P, Procaccio V, Bonneau D, Ziegler A. Rollier P, et al. Among authors: colin e. Mol Genet Metab Rep. 2025 Apr 4;43:101214. doi: 10.1016/j.ymgmr.2025.101214. eCollection 2025 Jun. Mol Genet Metab Rep. 2025. PMID: 40242153 Free PMC article.
A Phase 3 Trial of Upadacitinib for Giant-Cell Arteritis.
Blockmans D, Penn SK, Setty AR, Schmidt WA, Rubbert-Roth A, Hauge EM, Keen HI, Ishii T, Khalidi N, Dejaco C, Cid MC, Hellmich B, Liu M, Zhao W, Lagunes I, Romero AB, Wung PK, Merkel PA; SELECT-GCA Study Group. Blockmans D, et al. N Engl J Med. 2025 May 29;392(20):2013-2024. doi: 10.1056/NEJMoa2413449. Epub 2025 Apr 2. N Engl J Med. 2025. PMID: 40174237 Clinical Trial.
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.
Houdayer C, Rooney K, van der Laan L, Bris C, Alders M, Bahr A, Barcia G, Battault C, Begemann A, Bonneau D, Bonnevalle A, Boughalem A, Bourges A, Bournez M, Bruel AL, Buhas D, Carallis F, Cogné B, Cormier-Daire V, Delanne J, Demaret T, Denommé-Pichon AS, Désir J, Dubourg C, Fradin M, Geneviève D, Goel H, Goldenberg A, Gripp KW, Guichet A, Guimier A, Jacquinet A, Keren B, Legoff L, Levy MA, McConkey H, Mendelsohn BA, Mignot C, Milon V, Nizon M, Oneda B, Pasquier L, Patat O, Philippe C, Procaccio V, Procopio R, Prouteau C, Rambaud T, Rauch A, Relator R, Rondeau S, Santen GWE, Schleit J, Sorlin A, Steindl K, Tedder M, Tessarech M, Mau-Them FT, Trost D, Van der Sluijs PJ, Vincent M, Whalen S, Thauvin-Robinet C, Isidor B, Sadikovic B, Vitobello A, Colin E. Houdayer C, et al. Among authors: colin e. Eur J Hum Genet. 2025 Mar 5. doi: 10.1038/s41431-025-01798-w. Online ahead of print. Eur J Hum Genet. 2025. PMID: 40044822
An in-depth comparison of vascular inflammation on ultrasound, FDG-PET/CT and MRI in patients with suspected giant cell arteritis.
van Nieuwland M, Nienhuis PH, Haagsma C, van der Geest KSM, Wagenaar NRL, Appelman APA, Vijlbrief OD, van Bon L, Colin EM, Brouwer E, Slart RHJA, Alves C. van Nieuwland M, et al. Among authors: colin em. Eur J Nucl Med Mol Imaging. 2025 Jun;52(7):2491-2501. doi: 10.1007/s00259-025-07088-3. Epub 2025 Feb 4. Eur J Nucl Med Mol Imaging. 2025. PMID: 39903226 Free PMC article.
190 results