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  1. Article

    Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

    Nat. Genet. 47 803–808 (2015); published online 25 May 2015; corrected after print 8 July 2015 In the version of this article initially published, there was an error with the affiliations for author Roman Chra...

    Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa… in Nature Genetics (2015)

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    Article

    Transcriptional regulator PRDM12 is essential for human pain perception

    Geoffrey Woods, Jan Senderek and colleagues show that biallelic mutations in PRDM12 cause congenital insensitivity to pain. They further show that PRDM12 is expressed in nociceptors and their progenitors and part...

    Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa… in Nature Genetics (2015)

  3. Article

    Open Access

    Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome

    Imerslund-Gräsbeck Syndrome (IGS) is a rare genetic disorder characterised by juvenile megaloblastic anaemia. IGS is caused by mutations in either of the genes encoding the intestinal intrinsic factor-vitamin B12

    Tina Storm, Christina Zeitz, Olivier Cases, Sabine Amsellem… in BMC Medical Genetics (2013)

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    Article

    Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene

    The X-linked form of Alport syndrome (AS) is caused by mutation in the COL4A5 gene located at Xq22.3 and encoding the α5-chain of type IV-collagen. More than 400 different mutations have so far been detected in t...

    Jens Michael Hertz, Ulf Persson, Inger Juncker, Mårten Segelmark in Human Genetics (2005)

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    Article

    Pericentric inversion of chromosome 12; a three family study

    A pericentric inversion of chromosome 12 has been followed in three large independently ascertained Danish families. Out of a total number of 52 persons examined, 25 were found to carry the inversion. The brea...

    Annette Haagerup, Jens Michael Hertz in Human Genetics (1992)

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    Article

    Multipoint linkage analysis in X-linked Alport syndrome

    In order to localize the gene for the X-linked form of Alport syndrome (ATS) more precisely, we performed restriction fragment length polymorphism analysis with nine different X-chromosomal DNA markers in 107 ...

    Jens Michael Hertz, Torben A. Kruse, Anette Thomsen, Edwin S. Spencer in Human Genetics (1991)