Winnepenninckx B - Search Results

1

A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9).

Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz CE, Meindl A, Kooy RF. Ramser J, et al. Among authors: winnepenninckx b. J Med Genet. 2004 Sep;41(9):679-83. doi: 10.1136/jmg.2004.019000. J Med Genet. 2004. PMID: 15342698 Free PMC article.

2

Family MRX9 revisited: further evidence for locus heterogeneity in MRX.

Winnepenninckx B, Errijgers V, Reyniers E, De Deyn PP, Abidi FE, Schwartz CE, Kooy RF. Winnepenninckx B, et al. Am J Med Genet. 2002 Sep 15;112(1):17-22. doi: 10.1002/ajmg.10663. Am J Med Genet. 2002. PMID: 12239714

3

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.

Lenski C, Kooy RF, Reyniers E, Loessner D, Wanders RJ, Winnepenninckx B, Hellebrand H, Engert S, Schwartz CE, Meindl A, Ramser J. Lenski C, et al. Among authors: winnepenninckx b. Am J Hum Genet. 2007 Feb;80(2):372-7. doi: 10.1086/511527. Epub 2006 Dec 28. Am J Hum Genet. 2007. PMID: 17236142 Free PMC article.

4

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

Winnepenninckx B, Errijgers V, Hayez-Delatte F, Reyniers E, Frank Kooy R. Winnepenninckx B, et al. Hum Mutat. 2002 Oct;20(4):249-52. doi: 10.1002/humu.10130. Hum Mutat. 2002. PMID: 12325019

5

CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.

Winnepenninckx B, Debacker K, Ramsay J, Smeets D, Smits A, FitzPatrick DR, Kooy RF. Winnepenninckx B, et al. Am J Hum Genet. 2007 Feb;80(2):221-31. doi: 10.1086/510800. Epub 2006 Dec 12. Am J Hum Genet. 2007. PMID: 17236128 Free PMC article.

6

Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency.

Lirussi F, Jonard L, Gaston V, Sanlaville D, Kooy RF, Winnepenninckx B, Maher ER, Fitzpatrick DR, Gicquel C, Portnoï MF, Couderc R, Vazquez MP, Bahuau M. Lirussi F, et al. Among authors: winnepenninckx b. Am J Med Genet A. 2007 Dec 1;143A(23):2796-803. doi: 10.1002/ajmg.a.31768. Am J Med Genet A. 2007. PMID: 17994567

7

FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage.

Debacker K, Winnepenninckx B, Ben-Porat N, FitzPatrick D, Van Luijk R, Scheers S, Kerem B, Frank Kooy R. Debacker K, et al. Among authors: winnepenninckx b. J Med Genet. 2007 May;44(5):347-52. doi: 10.1136/jmg.2006.044628. J Med Genet. 2007. PMID: 17475918 Free PMC article.

8

The molecular basis of the folate-sensitive fragile site FRA11A at 11q13.

Debacker K, Winnepenninckx B, Longman C, Colgan J, Tolmie J, Murray R, van Luijk R, Scheers S, Fitzpatrick D, Kooy F. Debacker K, et al. Among authors: winnepenninckx b. Cytogenet Genome Res. 2007;119(1-2):9-14. doi: 10.1159/000109612. Epub 2007 Dec 14. Cytogenet Genome Res. 2007. PMID: 18160775

9

A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.

Wieland I, Sabathil J, Ostendorf A, Rittinger O, Röpke A, Winnepenninckx B, Kooy F, Holinski-Feder E, Wieacker P. Wieland I, et al. Among authors: winnepenninckx b. Neurogenetics. 2005 Feb;6(1):45-7. doi: 10.1007/s10048-004-0190-3. Neurogenetics. 2005. PMID: 15565397 No abstract available.

10

Extraction of high molecular weight DNA from molluscs.

Winnepenninckx B, Backeljau T, De Wachter R. Winnepenninckx B, et al. Trends Genet. 1993 Dec;9(12):407. doi: 10.1016/0168-9525(93)90102-n. Trends Genet. 1993. PMID: 8122306 No abstract available.

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