Korner C - Search Results

1

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V. de Lonlay P, et al. Among authors: korner c. J Med Genet. 2001 Jan;38(1):14-9. doi: 10.1136/jmg.38.1.14. J Med Genet. 2001. PMID: 11134235 Free PMC article.

2

CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).

Schollen E, Grünewald S, Keldermans L, Albrecht B, Körner C, Matthijs G. Schollen E, et al. Among authors: korner c. Eur J Med Genet. 2005 Apr-Jun;48(2):153-8. doi: 10.1016/j.ejmg.2005.01.002. Epub 2005 Feb 17. Eur J Med Genet. 2005. PMID: 16053906

3

Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality.

Thiel C, Lübke T, Matthijs G, von Figura K, Körner C. Thiel C, et al. Among authors: korner c. Mol Cell Biol. 2006 Aug;26(15):5615-20. doi: 10.1128/MCB.02391-05. Mol Cell Biol. 2006. PMID: 16847317 Free PMC article.

4

Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.

Thiel C, Rind N, Popovici D, Hoffmann GF, Hanson K, Conway RL, Adamski CR, Butler E, Scanlon R, Lambert M, Apeshiotis N, Thiels C, Matthijs G, Körner C. Thiel C, et al. Among authors: korner c. Hum Mutat. 2012 Mar;33(3):485-7. doi: 10.1002/humu.22019. Epub 2012 Jan 31. Hum Mutat. 2012. PMID: 22213132

5

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. Among authors: korner c. 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

6

The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse development.

Cromphout K, Vleugels W, Heykants L, Schollen E, Keldermans L, Sciot R, D'Hooge R, De Deyn PP, von Figura K, Hartmann D, Körner C, Matthijs G. Cromphout K, et al. Among authors: korner c. Mol Cell Biol. 2006 Aug;26(15):5621-35. doi: 10.1128/MCB.02357-05. Mol Cell Biol. 2006. PMID: 16847318 Free PMC article.

7

Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.

Lübke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Körner C. Lübke T, et al. Among authors: korner c. Nat Genet. 2001 May;28(1):73-6. doi: 10.1038/ng0501-73. Nat Genet. 2001. PMID: 11326280

8

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.

Lübbehusen J, Thiel C, Rind N, Ungar D, Prinsen BH, de Koning TJ, van Hasselt PM, Körner C. Lübbehusen J, et al. Among authors: korner c. Hum Mol Genet. 2010 Sep 15;19(18):3623-33. doi: 10.1093/hmg/ddq278. Epub 2010 Jul 6. Hum Mol Genet. 2010. PMID: 20605848

9

Mouse models for congenital disorders of glycosylation.

Thiel C, Körner C. Thiel C, et al. Among authors: korner c. J Inherit Metab Dis. 2011 Aug;34(4):879-89. doi: 10.1007/s10545-011-9295-7. Epub 2011 Feb 24. J Inherit Metab Dis. 2011. PMID: 21347588 Review.

10

Therapies and therapeutic approaches in Congenital Disorders of Glycosylation.

Thiel C, Körner C. Thiel C, et al. Among authors: korner c. Glycoconj J. 2013 Jan;30(1):77-84. doi: 10.1007/s10719-012-9447-5. Epub 2012 Sep 16. Glycoconj J. 2013. PMID: 22983739 Review.

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