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Page 1
Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study.
Van Steijvoort E, Cassou M, De Schutter C, Dimitriadou E, Peeters H, Peeraer K, Matthijs G, Borry P. Van Steijvoort E, et al. Among authors: matthijs g. J Assist Reprod Genet. 2024 Feb;41(2):451-464. doi: 10.1007/s10815-023-03010-8. Epub 2024 Jan 4. J Assist Reprod Genet. 2024. PMID: 38175314
Natural history of three late-diagnosed classic Galactosemia patients.
Quelhas D, Kingma SDK, Jonckheere AI, Smeets-Peels CS, Gomes DC, Duro J, Oliveira A, Matthijs G, Steinbusch LKM, Jaeken J, Rivera I, Rubio-Gozalbo E. Quelhas D, et al. Among authors: matthijs g. Mol Genet Metab Rep. 2024 Jan 23;38:101057. doi: 10.1016/j.ymgmr.2024.101057. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469096 Free PMC article.
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Wilson MP, Kentache T, Althoff CR, Schulz C, de Bettignies G, Mateu Cabrera G, Cimbalistiene L, Burnyte B, Yoon G, Costain G, Vuillaumier-Barrot S, Cheillan D, Rymen D, Rychtarova L, Hansikova H, Bury M, Dewulf JP, Caligiore F, Jaeken J, Cantagrel V, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT. Wilson MP, et al. Among authors: matthijs g. Cell. 2024 Jul 11;187(14):3585-3601.e22. doi: 10.1016/j.cell.2024.04.041. Epub 2024 May 30. Cell. 2024. PMID: 38821050 Free PMC article.
Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells.
Kentache T, Althoff CR, Caligiore F, Souche E, Schulz C, Graff J, Pieters E, Stanley P, Contessa JN, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT, Wilson MP. Kentache T, et al. Among authors: matthijs g. J Biol Chem. 2024 Dec;300(12):107875. doi: 10.1016/j.jbc.2024.107875. Epub 2024 Oct 10. J Biol Chem. 2024. PMID: 39395802 Free PMC article.
Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa.
Kabuyi PL, Mbayabo G, Ngole M, Zola AL, Race V, Matthijs G, Van Geet C, Tshilobo PL, Devriendt K, Mikobi TM. Kabuyi PL, et al. Among authors: matthijs g. EJHaem. 2023 Jul 19;4(3):595-601. doi: 10.1002/jha2.735. eCollection 2023 Aug. EJHaem. 2023. PMID: 37601858 Free PMC article.
Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin Haplotypes.
Ngole M, Mbayabo G, Lumbala P, Race V, Mvuama N, Deman S, Souche E, Lukusa PT, Van Geet C, Devriendt K, Matthijs G, Lumaka A, Cleynen I. Ngole M, et al. Among authors: matthijs g. Mediterr J Hematol Infect Dis. 2025 Jan 1;17(1):e2025001. doi: 10.4084/MJHID.2025.001. eCollection 2025. Mediterr J Hematol Infect Dis. 2025. PMID: 39830798 Free PMC article. No abstract available.
The N-glycosylation defect in Lec5 and Lec9 CHO cells is caused by absence of the DHRSX gene.
Kentache T, Althoff CR, Caligiore F, Souche E, Schulz C, Graff J, Pieters E, Stanley P, Contessa JN, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT, Wilson MP. Kentache T, et al. Among authors: matthijs g. bioRxiv [Preprint]. 2024 Jun 18:2024.06.18.599300. doi: 10.1101/2024.06.18.599300. bioRxiv. 2024. Update in: J Biol Chem. 2024 Dec;300(12):107875. doi: 10.1016/j.jbc.2024.107875 PMID: 38948797 Free PMC article. Updated. Preprint.
351 results