Table of contents

Electronic letters

• DBH gene variants that cause low plasma dopamine β hydroxylase with or without a severe orthostatic syndrome

  (1 April, 2004)

  J Deinum, G C H Steenbergen-Spanjers, M Jansen, F Boomsma, J W M Lenders, F J van Ittersum, N Hück, L P van den Heuvel, R A Wevers
• Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes

  (1 April, 2004)

  R Bergholdt, P Ghandil, J Johannesen, O P Kristiansen, I Kockum, H Luthman, K S Rønningen, J Nerup, C Julier, F Pociot
• Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients

  (1 April, 2004)

  A Rauch, K Devriendt, A Koch, R Rauch, M Gewillig, C Kraus, M Weyand, H Singer, A Reis, M Hofbeck
• Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees (1 April, 2004)

  P Y W Man, N Howell, D A Mackey, S Nørby, T Rosenberg, D M Turnbull, P F Chinnery
• A frequent keratin 8 p.L227L polymorphism, but no point mutations in keratin 8 and 18 genes, in patients with various liver disorders (1 April, 2004)

  M Hesse, T Berg, B Wiedenmann, U Spengler, R P Woitas, T M Magin
• Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome (1 April, 2004)

  F Tassone, R J Hagerman, D Garcia-Arocena, E W Khandjian, C M Greco, P J Hagerman
• Comparison of motivations and concerns for genetic testing in hereditary colorectal and breast cancer syndromes (1 April, 2004)

  J Balmaña, E M Stoffel, K M Emmons, J E Garber, S Syngal
• Robust fragile X (CGG)_n genotype classification using a methylation specific triple PCR assay

  (1 April, 2004)

  Y Zhou, H-Y Law, C D Boehm, C-S Yoon, G R Cutting, I S L Ng, S S Chong
• FRG1P is localised in the nucleolus, Cajal bodies, and speckles (1 April, 2004)

  S van Koningsbruggen, R W Dirks, A M Mommaas, J J Onderwater, G Deidda, G W Padberg, R R Frants, S M van der Maarel
• Screening of the 1 Mb SOX9 5′ control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal

  (1 April, 2004)

  R Pop, C Conz, K S Lindenberg, S Blesson, B Schmalenberger, S Briault, D Pfeifer, G Scherer