Könst AA - Search Results

1

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

Leegwater PA, Vermeulen G, Könst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Leegwater PA, et al. Among authors: konst aa. Nat Genet. 2001 Dec;29(4):383-8. doi: 10.1038/ng764. Nat Genet. 2001. PMID: 11704758

2

Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.

Leegwater PA, Boor PK, Yuan BQ, van der Steen J, Visser A, Könst AA, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Leegwater PA, et al. Among authors: konst aa. Hum Genet. 2002 Mar;110(3):279-83. doi: 10.1007/s00439-002-0682-x. Epub 2002 Feb 8. Hum Genet. 2002. PMID: 11935341

3

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.

van der Knaap MS, Leegwater PA, Könst AA, Visser A, Naidu S, Oudejans CB, Schutgens RB, Pronk JC. van der Knaap MS, et al. Among authors: konst aa. Ann Neurol. 2002 Feb;51(2):264-70. doi: 10.1002/ana.10112. Ann Neurol. 2002. PMID: 11835386

4

The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27.

Leegwater PA, Könst AA, Kuyt B, Sandkuijl LA, Naidu S, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Leegwater PA, et al. Among authors: konst aa. Am J Hum Genet. 1999 Sep;65(3):728-34. doi: 10.1086/302548. Am J Hum Genet. 1999. PMID: 10441579 Free PMC article.

5

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.

Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Leegwater PA, et al. Among authors: konst aa. Am J Hum Genet. 2001 Apr;68(4):831-8. doi: 10.1086/319519. Epub 2001 Mar 6. Am J Hum Genet. 2001. PMID: 11254442 Free PMC article.

6

Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family.

van Dijk M, Mulders J, Poutsma A, Könst AA, Lachmeijer AM, Dekker GA, Blankenstein MA, Oudejans CB. van Dijk M, et al. Among authors: konst aa. Nat Genet. 2005 May;37(5):514-9. doi: 10.1038/ng1541. Epub 2005 Apr 3. Nat Genet. 2005. PMID: 15806103

7

Enrichment of fetal trophoblast cells from the maternal peripheral blood followed by detection of fetal deoxyribonucleic acid with a nested X/Y polymerase chain reaction.

van Wijk IJ, van Vugt JM, Mulders MA, Könst AA, Weima SM, Oudejans CB. van Wijk IJ, et al. Among authors: konst aa. Am J Obstet Gynecol. 1996 Mar;174(3):871-8. doi: 10.1016/s0002-9378(96)70315-0. Am J Obstet Gynecol. 1996. PMID: 8633658

8

Multiparameter in situ analysis of trophoblast cells in mixed cell populations by combined DNA and RNA in situ hybridization.

Van Wijk IJ, Van Vugt JM, Könst AA, Mulders MA, Nieuwint AW, Oudejans CB. Van Wijk IJ, et al. Among authors: konst aa. J Histochem Cytochem. 1995 Jul;43(7):709-14. doi: 10.1177/43.7.7608525. J Histochem Cytochem. 1995. PMID: 7608525

9

Differential downregulation of alphaT-catenin expression in placenta: trophoblast cell type-dependent imprinting of the CTNNA3 gene.

van Dijk M, Mulders J, Könst A, Janssens B, van Roy F, Blankenstein M, Oudejans C. van Dijk M, et al. Gene Expr Patterns. 2004 Nov;5(1):61-5. doi: 10.1016/j.modgep.2004.06.006. Gene Expr Patterns. 2004. PMID: 15533819

10

The parent-of-origin effect of 10q22 in pre-eclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas.

Oudejans CB, Mulders J, Lachmeijer AM, van Dijk M, Könst AA, Westerman BA, van Wijk IJ, Leegwater PA, Kato HD, Matsuda T, Wake N, Dekker GA, Pals G, ten Kate LP, Blankenstein MA. Oudejans CB, et al. Among authors: konst aa. Mol Hum Reprod. 2004 Aug;10(8):589-98. doi: 10.1093/molehr/gah080. Epub 2004 Jun 18. Mol Hum Reprod. 2004. PMID: 15208369

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