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94 results

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Page 1
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem MC, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson JB, Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J; Program for Undiagnosed Diseases (UD-PrOZA); Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B. Schuermans N, et al. Among authors: bogaert e. Nat Genet. 2023 Nov;55(11):1929-1940. doi: 10.1038/s41588-023-01535-3. Epub 2023 Nov 2. Nat Genet. 2023. PMID: 37919452
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. Bogaert E, et al. Am J Hum Genet. 2023 May 4;110(5):790-808. doi: 10.1016/j.ajhg.2023.03.016. Epub 2023 Apr 17. Am J Hum Genet. 2023. PMID: 37071997 Free PMC article.
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.
Schuermans N, Verdin H, Ghijsels J, Hellemans M, Debackere E, Bogaert E, Symoens S, Naesens L, Lecomte E, Crosiers D, Bergmans B, Verhoeven K, Poppe B, Laureys G, Herdewyn S, Van Langenhove T, Santens P, De Bleecker JL, Hemelsoet D, Dermaut B; for Program for Undiagnosed Rare Diseases (UD-PrOZA). Schuermans N, et al. Among authors: bogaert e. Neurol Genet. 2023 Apr 26;9(3):e200071. doi: 10.1212/NXG.0000000000200071. eCollection 2023 Jun. Neurol Genet. 2023. PMID: 37152446 Free PMC article.
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Pérez Baca MDR, Jacobs EZ, Vantomme L, Leblanc P, Bogaert E, Dheedene A, De Cock L, Haghshenas S, Foroutan A, Levy MA, Kerkhof J, McConkey H, Chen CA, Batzir NA, Wang X, Palomares M, Carels M; ZFHX3 consortium; Dermaut B, Sadikovic B, Menten B, Yuan B, Vergult S, Callewaert B. Pérez Baca MDR, et al. Among authors: bogaert e. Am J Hum Genet. 2024 Mar 7;111(3):509-528. doi: 10.1016/j.ajhg.2024.01.013. Epub 2024 Feb 26. Am J Hum Genet. 2024. PMID: 38412861
Diagnostic value of PET imaging in clinically unresponsive patients.
Farg H, Elnakib A, Gebreil A, Alksas A, van Bogaert E, Mahmoud A, Khalil A, Ghazal M, Abou El-Ghar M, El-Baz A, Contractor S. Farg H, et al. Among authors: van bogaert e. Br J Radiol. 2024 Feb 2;97(1154):283-291. doi: 10.1093/bjr/tqad040. Br J Radiol. 2024. PMID: 38308033 Review.
Survey on fan-beam computed tomography for radiotherapy: Current implementation and future perspectives of motion management and surface guidance devices.
Papalazarou C, Qamhiyeh S, Kaatee R, De Rouck J, Decabooter E, Hilgers GC, Salvo K, van Wingerden J, Bosmans H, van der Heyden B, Pittomvils G, Bogaert E. Papalazarou C, et al. Among authors: bogaert e. Phys Imaging Radiat Oncol. 2023 Dec 10;29:100523. doi: 10.1016/j.phro.2023.100523. eCollection 2024 Jan. Phys Imaging Radiat Oncol. 2023. PMID: 38187170 Free PMC article.
Survey on fan-beam computed tomography for radiotherapy: Imaging for dose calculation and delineation.
Decabooter E, Hilgers GC, De Rouck J, Salvo K, Van Wingerden J, Bosmans H, van der Heyden B, Qamhiyeh S, Papalazarou C, Kaatee R, Pittomvils G, Bogaert E. Decabooter E, et al. Among authors: bogaert e. Phys Imaging Radiat Oncol. 2023 Dec 6;29:100522. doi: 10.1016/j.phro.2023.100522. eCollection 2024 Jan. Phys Imaging Radiat Oncol. 2023. PMID: 38152701 Free PMC article.
94 results