Table of contents

Letters to the editor

• Autosomal dominant polycystic kidney disease unlinked to thePKD1 and PKD2loci presenting as familial cerebral aneurysm

  (1 April, 2001) Free

  R S MCCONNELL, D C RUBINSZTEIN, T F FANNIN, C S MCKINSTRY, B KELLY, I C BAILEY, A E HUGHES
• Detection of heterozygousSMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

  (1 April, 2001) Free

  PASCALE SAUGIER-VEBER, NATHALIE DROUOT, SUZIE LEFEBVRE, FRANÇOISE CHARBONNIER, ELODIE VIAL, ARNOLD MUNNICH, THIERRY FRÉBOURG
• Low prevalence of SPINK1 gene mutations in adult patients with chronic idiopathic pancreatitis

  (1 April, 2001) Free

  JOHANN OCKENGA, THILO DÖRK, MANFRED STUHRMANN
• Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus

  (1 April, 2001) Free

  AJIT KADAKOL, BALJIT S SAPPAL, SIDDHARTHA S GHOSH, MARK LOWENHEIM, ABHIJIT CHOWDHURY, SUJIT CHOWDHURY, AMAL SANTRA, IRWIN M ARIAS, JAYANTA ROY CHOWDHURY, NAMITA ROY CHOWDHURY
• Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2

  (1 April, 2001) Free

  K A SCOGGAN, T CHANDRA, R NELSON, A F HAHN, D E BULMAN
• Detection of 11 germline inactivating TP53 mutations and absence of TP63 andHCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome

  (1 April, 2001) Free

  GAËLLE BOUGEARD, JEAN-MARC LIMACHER, COSETTE MARTIN, FRANÇOISE CHARBONNIER, AUDREY KILLIAN, OLIVIER DELATTRE, MICHEL LONGY, PHILIPPE JONVEAUX, JEAN-PIERRE FRICKER, DOMINIQUE STOPPA-LYONNET, JEAN-MICHEL FLAMAN, THIERRY FRÉBOURG
• A distinct splice form ofAPC is highly expressed in neurones but not commonly mutated in neuroepithelial tumours

  (1 April, 2001) Free

  KIRA STEIGERWALD, IRMA M SANTORO, JENNIFER J KORDICH, VIVIANA GISMONDI, CHRIS TRZEPACZ, MANUELA BADIALI, F GIANGASPERO, M GREGORY BALKO, JENNIFER S GRAHAM, NANCY RATNER, ANDREW M LOWY, LILIANA VARESCO, JOANNA GRODEN
• Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism (1 April, 2001) Free

  DENISE HORN, EDGAR RUPPRECHT, JÜRGEN KUNZE, JÜRGEN SPRANGER
• Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family (1 April, 2001) Free

  ANDREAS R JANECKE, KARIN UNSINN, ALFONS KRECZY, IVO BALDISSERA, INGMAR GASSNER, NIKOLAUS NEU, GERD UTERMANN, THOMAS MÜLLER
• Diaphragmatic hernia, hydrocephalus, and cardiac malformations in four pregnancies of a non-consanguineous couple (1 April, 2001) Free

  C D DELOZIER-BLANCHET, J LESPINASSE, M A BRUNDLER, P EXTERMANN
• Deletion 22q11 syndrome: acknowledging a lost eponym as we say farewell to an acronym (1 April, 2001) Free

  PETER D TURNPENNY, RON W PIGOTT
• Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? (1 April, 2001) Free

  KATARIINA HANNULA, JUHA KERE, SINIKKA PIRINEN, CHRISTER HOLMBERG, MARITA LIPSANEN-NYMAN