Jaeken J - Search Results

1

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Grünewald S, Schollen E, Van Schaftingen E, Jaeken J, Matthijs G. Grünewald S, et al. Among authors: jaeken j. Am J Hum Genet. 2001 Feb;68(2):347-54. doi: 10.1086/318199. Epub 2001 Jan 11. Am J Hum Genet. 2001. PMID: 11156536 Free PMC article.

2

TMEM165 deficiency causes a congenital disorder of glycosylation.

Foulquier F, Amyere M, Jaeken J, Zeevaert R, Schollen E, Race V, Bammens R, Morelle W, Rosnoblet C, Legrand D, Demaegd D, Buist N, Cheillan D, Guffon N, Morsomme P, Annaert W, Freeze HH, Van Schaftingen E, Vikkula M, Matthijs G. Foulquier F, et al. Among authors: jaeken j. Am J Hum Genet. 2012 Jul 13;91(1):15-26. doi: 10.1016/j.ajhg.2012.05.002. Epub 2012 Jun 7. Am J Hum Genet. 2012. PMID: 22683087 Free PMC article.

3

Clinical utility gene card for: Phosphomannomutase 2 deficiency.

Jaeken J, Lefeber D, Matthijs G. Jaeken J, et al. Eur J Hum Genet. 2014 Aug;22(8). doi: 10.1038/ejhg.2013.298. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424124 Free PMC article. No abstract available.

4

Congenital disorders of glycosylation (CDG): Quo vadis?

Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J. Péanne R, et al. Among authors: jaeken j. Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25. Eur J Med Genet. 2018. PMID: 29079546 Free article. Review.

5

Carbohydrate deficient glycoprotein (CDG) syndrome type I.

Jaeken J, Matthijs G, Barone R, Carchon H. Jaeken J, et al. J Med Genet. 1997 Jan;34(1):73-6. doi: 10.1136/jmg.34.1.73. J Med Genet. 1997. PMID: 9032653 Free PMC article. No abstract available.

6

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E. Matthijs G, et al. Among authors: jaeken j. Nat Genet. 1997 May;16(1):88-92. doi: 10.1038/ng0597-88. Nat Genet. 1997. PMID: 9140401

7

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J. Matthijs G, et al. Among authors: jaeken j. Am J Hum Genet. 1998 Mar;62(3):542-50. doi: 10.1086/301763. Am J Hum Genet. 1998. PMID: 9497260 Free PMC article.

8

Prenatal diagnosis in CDG1 families: beware of heterogeneity.

Matthijs G, Schollen E, Cassiman JJ, Cormier-Daire V, Jaeken J, van Schaftingen E. Matthijs G, et al. Among authors: jaeken j. Eur J Hum Genet. 1998 Mar-Apr;6(2):99-104. doi: 10.1038/sj.ejhg.5200161. Eur J Hum Genet. 1998. PMID: 9781052

9

Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.

Pirard M, Matthijs G, Heykants L, Schollen E, Grünewald S, Jaeken J, van Schaftingen E. Pirard M, et al. Among authors: jaeken j. FEBS Lett. 1999 Jun 11;452(3):319-22. doi: 10.1016/s0014-5793(99)00673-0. FEBS Lett. 1999. PMID: 10386614 Free article.

10

Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).

Carchon H, Van Schaftingen E, Matthijs G, Jaeken J. Carchon H, et al. Among authors: jaeken j. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):155-65. doi: 10.1016/s0925-4439(99)00073-3. Biochim Biophys Acta. 1999. PMID: 10571009 Free article. Review.

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