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Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome.
Bhalla K, Rosier K, Monnens Y, Meulemans S, Vervoort E, Thorrez L, Agostinis P, Meier DT, Rochtus A, Resnick JL, Creemers JWM. Bhalla K, et al. Among authors: rochtus a. Biochim Biophys Acta Mol Basis Dis. 2024 Apr 16;1870(5):167175. doi: 10.1016/j.bbadis.2024.167175. Online ahead of print. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38626828 Free article.
Early-childhood body mass index and its association with the COVID-19 pandemic, containment measures and islet autoimmunity in children with increased risk for type 1 diabetes.
Hummel S, Rosenberger S, von dem Berge T, Besser REJ, Casteels K, Hommel A, Kordonouri O, Elding Larsson H, Lundgren M, Marcus BA, Oltarzewski M, Rochtus A, Szypowska A, Todd JA, Weiss A, Winkler C, Bonifacio E, Ziegler AG; GPPAD and POInT Study Group. Hummel S, et al. Among authors: rochtus a. Diabetologia. 2024 Apr;67(4):670-678. doi: 10.1007/s00125-023-06079-z. Epub 2024 Jan 12. Diabetologia. 2024. PMID: 38214711 Free PMC article.
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Hannes L, Atzori M, Goldenberg A, Argente J, Attie-Bitach T, Amiel J, Attanasio C, Braslavsky DG, Bruel AL, Castanet M, Dubourg C, Jacobs A, Lyonnet S, Martinez-Mayer J, Pérez Millán MI, Pezzella N, Pelgrims E, Aerden M, Bauters M, Rochtus A, Scaglia P, Swillen A, Sifrim A, Tammaro R, Mau-Them FT, Odent S, Thauvin-Robinet C, Franco B, Breckpot J. Hannes L, et al. Among authors: rochtus a. Genet Med. 2024 Apr;26(4):101059. doi: 10.1016/j.gim.2023.101059. Epub 2023 Dec 27. Genet Med. 2024. PMID: 38158857
SARS-CoV-2 Infection and Development of Islet Autoimmunity in Early Childhood.
Lugar M, Eugster A, Achenbach P, von dem Berge T, Berner R, Besser REJ, Casteels K, Elding Larsson H, Gemulla G, Kordonouri O, Lindner A, Lundgren M, Müller D, Oltarzewski M, Rochtus A, Scholz M, Szypowska A, Todd JA, Ziegler AG, Bonifacio E; GPPAD Study Group. Lugar M, et al. Among authors: rochtus a. JAMA. 2023 Sep 26;330(12):1151-1160. doi: 10.1001/jama.2023.16348. JAMA. 2023. PMID: 37682551 Free PMC article.
Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives.
van der Kaay DCM, Rochtus A, Binder G, Kurth I, Prawitt D, Netchine I, Johannsson G, Hokken-Koelega ACS, Elbracht M, Eggermann T. van der Kaay DCM, et al. Among authors: rochtus a. Endocr Connect. 2022 Oct 10;11(11):e220277. doi: 10.1530/EC-22-0277. Print 2022 Nov 1. Endocr Connect. 2022. PMID: 36064195 Free PMC article. Review.
26 results