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233 results

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Page 1
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.
Li D, Strong A, Shen KM, Cassiman D, Van Dyck M, Linhares ND, Valadares ER, Wang T, Pena SDJ, Jaeken J, Vergano S, Zackai E, Hing A, Chow P, Ganguly A, Scholz T, Bierhals T, Philipp D, Hakonarson H, Bhoj E. Li D, et al. Among authors: cassiman d. Genet Med. 2021 Apr;23(4):637-644. doi: 10.1038/s41436-020-01031-7. Epub 2020 Nov 27. Genet Med. 2021. PMID: 33244166 Free article.
NASH may be trash.
Cassiman D, Jaeken J. Cassiman D, et al. Gut. 2008 Feb;57(2):141-4. doi: 10.1136/gut.2007.123240. Gut. 2008. PMID: 18192446 No abstract available.
Management dilemmas in pediatric nephrology: Cystinosis.
Besouw MT, Van Dyck M, Cassiman D, Claes KJ, Levtchenko EN. Besouw MT, et al. Among authors: cassiman d. Pediatr Nephrol. 2015 Aug;30(8):1349-60. doi: 10.1007/s00467-015-3117-3. Epub 2015 May 9. Pediatr Nephrol. 2015. PMID: 25956701
Renal involvement in PMM2-CDG, a mini-review.
Altassan R, Witters P, Saifudeen Z, Quelhas D, Jaeken J, Levtchenko E, Cassiman D, Morava E. Altassan R, et al. Among authors: cassiman d. Mol Genet Metab. 2018 Mar;123(3):292-296. doi: 10.1016/j.ymgme.2017.11.012. Epub 2017 Nov 28. Mol Genet Metab. 2018. PMID: 29229467 Review.
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Witters P, Honzik T, Bauchart E, Altassan R, Pascreau T, Bruneel A, Vuillaumier S, Seta N, Borgel D, Matthijs G, Jaeken J, Meersseman W, Cassiman D, Pascale de L, Morava E. Witters P, et al. Among authors: cassiman d. Genet Med. 2019 May;21(5):1181-1188. doi: 10.1038/s41436-018-0301-4. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293989 Free article.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L; Undiagnosed Diseases Network; Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. Ferdinandusse S, et al. Among authors: cassiman d. Genet Med. 2021 Apr;23(4):740-750. doi: 10.1038/s41436-020-01027-3. Epub 2020 Nov 26. Genet Med. 2021. PMID: 33239752 Free PMC article.
A Patient with neonatal cholestasis.
Claeys KG, Breysem L, Legius E, Brems H, Cassiman D, Moisse M, Vermeersch P, Levtchenko E, Jaeken J. Claeys KG, et al. Among authors: cassiman d. J Mother Child. 2021 Jul 16;24(4):31-33. doi: 10.34763/jmotherandchild.20202404.d-20-00012. J Mother Child. 2021. PMID: 33684277 Free PMC article.
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L; Undiagnosed Diseases Network; Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. Ferdinandusse S, et al. Among authors: cassiman d. Genet Med. 2021 Dec;23(12):2467. doi: 10.1038/s41436-021-01189-8. Genet Med. 2021. PMID: 34667295 Free PMC article. No abstract available.
Bilateral renal cell carcinoma development in long-term Fabry disease.
Cassiman D, Claes K, Lerut E, Oyen R, Joniau S, Van Damme B, Jaeken J. Cassiman D, et al. J Inherit Metab Dis. 2007 Oct;30(5):830-1. doi: 10.1007/s10545-007-0648-1. Epub 2007 May 12. J Inherit Metab Dis. 2007. PMID: 17505913 No abstract available.
233 results