Table of contents

Letters to the editor

• Leigh syndrome transmitted by uniparental disomy of chromosome 9 (1 December, 1999)

  VALERIA TIRANTI, ELEONORA LAMANTEA, GRAZIELLA UZIEL, MASSIMO ZEVIANI, PAOLO GASPARINI, ROSALIA MARZELLA, MARIANO ROCCHI, MIKE FRIED
• A case of Williams syndrome with a large, visible cytogenetic deletion (1 December, 1999)

  YUAN-QING WU, ELIZABETH NICKERSON, LISA G SHAFFER, KIM KEPPLER-NOREUIL, ANN MUILENBURG
• First molecular evidence for a de novo mutation inRS1 (XLRS1) associated with X linked juvenile retinoschisis

  (1 December, 1999)

  ANDREA GEHRIG, BERNHARD H F WEBER, BIRGIT LORENZ, MONIKA ANDRASSI
• Pathogenicity of homoplasmic mitochondrial DNA mutation and nuclear gene involvement (1 December, 1999)

  MASATO ODAWARA, HISATAKA MAKI, NOBUHIRO YAMADA
• Identification and clinical presentation of β thalassaemia mutations in the eastern region of Saudi Arabia (1 December, 1999)

  EL-HARITH A EL-HARITH, WOLFGANG KÜHNAU, JÖRG SCHMIDTKE, MANFRED STUHRMANN, ZAKI NASSERALLAH, ABDALLAH AL-SHAHRI
• Rapid screening for the most common β thalassaemia mutations in south east Asia by PCR based restriction fragment length polymorphism analysis (PCR-RFLP) (1 December, 1999)

  PATCHARIN PRAMOONJAGO, ALIDA HARAHAP, RATNA AGUNG TAUFANI, ISWARI SETIANINGSIH, SANGKOT MARZUKI, ALIDA HARAHAP
• Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12 (1 December, 1999)

  ANGELA F BRADY, MADIHA M ELSAWI, C RUTH JAMIESON, KAREN MARKS, STEVE JEFFERY, MICHAEL A PATTON, LILY MURTAZA, MARTIN O SAVAGE
• Amelogenesis imperfecta, sensorineural hearing loss, and Beau's lines: a second case report of Heimler's syndrome (1 December, 1999)

  MARC TISCHKOWITZ, CATHERINE CLENAGHAN, SALLY DAVIES, LINDSAY HUNTER, JOHN POTTS, SENNO VERHOEF
• PTENand LKB1 genes in laryngeal tumours

  (1 December, 1999)

  REN WEI CHEN, EGLE AVIZIENYTE, STINA ROTH, ILMO LEIVO, ANTTI A MÄKITIE, LEENA-MAIJA AALTONEN, LAURI A AALTONEN