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Page 1
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. Friederich MW, et al. Among authors: lefeber d. Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w. Nat Commun. 2018. PMID: 30283131 Free PMC article.
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Körner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ. Timal S, et al. Hum Mol Genet. 2012 Oct 1;21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5. Hum Mol Genet. 2012. PMID: 22492991
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H. Roscioli T, et al. Among authors: lefeber dj. Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253. Nat Genet. 2012. PMID: 22522421 Free PMC article.
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Wortmann SB, et al. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Nat Genet. 2012. PMID: 22683713
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
Iqbal Z, Shahzad M, Vissers LE, van Scherpenzeel M, Gilissen C, Razzaq A, Zahoor MY, Khan SN, Kleefstra T, Veltman JA, de Brouwer AP, Lefeber DJ, van Bokhoven H, Riazuddin S. Iqbal Z, et al. Eur J Hum Genet. 2013 Aug;21(8):844-9. doi: 10.1038/ejhg.2012.257. Epub 2012 Dec 19. Eur J Hum Genet. 2013. PMID: 23249953 Free PMC article.
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ. Van Scherpenzeel M, et al. Among authors: lefeber dj. Brain. 2014 Apr;137(Pt 4):1030-8. doi: 10.1093/brain/awu019. Epub 2014 Feb 24. Brain. 2014. PMID: 24566669
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Haer-Wigman L, Newman H, Leibu R, Bax NM, Baris HN, Rizel L, Banin E, Massarweh A, Roosing S, Lefeber DJ, Zonneveld-Vrieling MN, Isakov O, Shomron N, Sharon D, Den Hollander AI, Hoyng CB, Cremers FP, Ben-Yosef T. Haer-Wigman L, et al. Among authors: lefeber dj. Hum Mol Genet. 2015 Jul 1;24(13):3742-51. doi: 10.1093/hmg/ddv118. Epub 2015 Apr 9. Hum Mol Genet. 2015. PMID: 25859010 Free PMC article.
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ. Jansen JC, et al. Among authors: lefeber dj. Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833330 Free PMC article.
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ. Jansen JC, et al. Among authors: lefeber dj. Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833332 Free PMC article.
278 results