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  1. Article

    Correction: Corrigendum: A role for Bicaudal-D2 in radial cerebellar granule cell migration

    Nature Communications 5: Article number: 3411 (2014); Published: 11 March 2014; Updated: 7 July 2014. The affiliation details for Susan van Erp are incorrect in this Article. The correct affiliation details fo...

    Dick Jaarsma, Robert van den Berg, Phebe S. Wulf, Susan van Erp… in Nature Communications (2014)

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    Article

    A role for Bicaudal-D2 in radial cerebellar granule cell migration

    Bicaudal-D (BICD) belongs to an evolutionary conserved family of dynein adaptor proteins. It was first described in Drosophila as an essential factor in fly oogenesis and embryogenesis. Missense mutations in a hu...

    Dick Jaarsma, Robert van den Berg, Phebe S. Wulf, Susan van Erp… in Nature Communications (2014)

  3. 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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    Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

    Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)1,2,3,4,5,6,7,8,9, historically termed Pick's ...

    Mike Hutton, Corinne L. Lendon, Patrizia Rizzu, Matt Baker, Susanne Froelich… in Nature (1998)

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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

    Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

    THE fragile X syndrome is the most frequent form of inherited mental retardation after Down's syndrome, having an incidence of one in 1,250 males1,2. The fragile X syndrome results from amplification of the CGG r...

    Coleta Verheij, Cathy E. Bakker, Esther de Graaff, Joke Keulemans, Rob Willemsen… in Nature (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)