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  1. Article

    Open Access

    Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly

    Apparently balanced chromosomal inversions may lead to disruption of developmentally important genes at the breakpoints of the inversion, causing congenital malformations. Characterization of such inversions m...

    Elisabeth M. Lodder, Bert H. Eussen, Daniëlla A. C. M. van Hassel… in Chromosome Research (2009)

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    Article

    Characterization of the full fragile X syndrome mutation in fetal gametes

    Fragile X syndrome results from the expansion of the CGG repeat in the FMR1 gene. Expansion has been suggested to be a postzygotic event with the germline protected. From an analysis of intact ovaries of full mut...

    Henry E. Malter, Jane C. Iber, R. Willemsen, Esther de Graaff… in Nature Genetics (1997)

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    Article

    The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm

    Fragile X syndrome is characterized at the molecular level by amplification of a (CGG)n repeat and hypermethylation of a CpG island preceeding the open reading frame of the fragile X gene (FMR–1) located in Xq27....

    Edwin Reyniers, Lieve Vits, Kristel De Boulle, Bernadette Van Roy… in Nature Genetics (1993)

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    Article

    A point mutation in the FMR-1 gene associated with fragile X mental retardation

    The vast majority of patients with fragile X syndrome show a folate–sensitive fragile site at Xq27.3 (FRAXA) at the cytogenetic level, and both amplification of the (CGG)n repeat and hypermethylation of the CpG i...

    Kristel De Boulle, Annemieke J.M.H. Verkerk, Edwin Reyniers, Lieve Vits… in Nature Genetics (1993)