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21 results

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Page 1
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K. Harms FL, et al. Among authors: ceulemans s. Am J Hum Genet. 2017 Jan 5;100(1):117-127. doi: 10.1016/j.ajhg.2016.11.012. Epub 2016 Dec 22. Am J Hum Genet. 2017. PMID: 28017373 Free PMC article.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Among authors: ceulemans s. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH; Undiagnosed Diseases Network; Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Marbach F, et al. Among authors: ceulemans s. Genet Med. 2021 Aug;23(8):1465-1473. doi: 10.1038/s41436-021-01152-7. Epub 2021 Apr 8. Genet Med. 2021. PMID: 33833410 Free PMC article.
Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.
Zima L, Ceulemans S, Reiner G, Galosi S, Chen D, Sahagian M, Haas RH, Hyland K, Friedman J. Zima L, et al. Among authors: ceulemans s. Ann Clin Transl Neurol. 2018 Jul 17;5(8):996-1010. doi: 10.1002/acn3.597. eCollection 2018 Aug. Ann Clin Transl Neurol. 2018. PMID: 30128325 Free PMC article. Review.
DOMINO trial post hoc analysis: evaluation of the diet effects on symptoms in IBS subtypes.
Di Rosa C, Van den Houte K, Altomare A, Guarino MPL, Besard L, Arts J, Caenepeel P, Piessevaux H, Vandenberghe A, Matthys C, Biesiekierski JR, Capiau L, Ceulemans S, Gernay O, Jones L, Maes S, Peetermans C, Raat W, Stubbe J, Van Boxstael R, Vandeput O, Van Steenbergen S, Van Oudenhove L, Vanuytsel T, Jones M, Tack J, Carbone F. Di Rosa C, et al. Among authors: ceulemans s. Therap Adv Gastroenterol. 2024 Jul 30;17:17562848241255296. doi: 10.1177/17562848241255296. eCollection 2024. Therap Adv Gastroenterol. 2024. PMID: 39086991 Free PMC article.
Diet or medication in primary care patients with IBS: the DOMINO study - a randomised trial supported by the Belgian Health Care Knowledge Centre (KCE Trials Programme) and the Rome Foundation Research Institute.
Carbone F, Van den Houte K, Besard L, Tack C, Arts J, Caenepeel P, Piessevaux H, Vandenberghe A, Matthys C, Biesiekierski J, Capiau L, Ceulemans S, Gernay O, Jones L, Maes S, Peetermans C, Raat W, Stubbe J, Van Boxstael R, Vandeput O, Van Steenbergen S, Van Oudenhove L, Vanuytsel T, Jones M, Tack J; DOMINO Study Collaborators; Domino Study Collaborators. Carbone F, et al. Among authors: ceulemans s. Gut. 2022 Nov;71(11):2226-2232. doi: 10.1136/gutjnl-2021-325821. Epub 2022 Apr 28. Gut. 2022. PMID: 35483886 Free PMC article. Clinical Trial.
21 results