Table of contents

Letters to the editor

• Segmental uniparental isodisomy (UPD) for 2p16 without clinical symptoms: implications for UPD and other genetic studies of chromosome 2 (1 February, 2001)

  CONSTANTINE A STRATAKIS, SUSAN E TAYMANS, DAVID SCHTEINGART, BASSEM R HADDAD
• Mutations in SURF1 are not specifically associated with Leigh syndrome

  (1 February, 2001)

  JÜRGEN-CHRISTOPH VON KLEIST-RETZOW, JIANBO YAO, JAN-WILLEM TAANMAN, KARINE CHANTREL, DOMINIQUE CHRETIEN, VALÉRIE CORMIER-DAIRE, AGNÈS RÖTIG, ARNOLD MUNNICH, PIERRE RUSTIN, ERIC A SHOUBRIDGE
• A novel mutation and novel features in Nijmegen breakage syndrome (1 February, 2001)

  P MARASCHIO, C DANESINO, A ANTOCCIA, R RICORDY, C TANZARELLA, R VARON, A REIS, D BESANA, A GUALA, L TIEPOLO
• Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome (1 February, 2001)

  G BORCK, J WIRTH, T HARDT, H TÖNNIES, K BRØNDUM-NIELSEN, M BUGGE, N TOMMERUP, H-G NOTHWANG, H-H ROPERS, T HAAF
• Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation (1 February, 2001)

  FABIENNE GIRAUDEAU, LAURENCE TAINE, VALÉRIE BIANCALANA, BRUNO DELOBEL, HUBERT JOURNEL, CHANTAL MISSIRIAN, DIDIER LACOMBE, DOMINIQUE BONNEAU, PHILIPPE PARENT, DOMINIQUE AUBERT, YOLANDE HAUCK, MARIE FRANÇOISE CROQUETTE, ANNICK TOUTAIN, MARIE GENEVIÈVE MATTEI, HERVÉ AVET LOISEAU, ALBERT DAVID, GILLES VERGNAUD
• A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities (1 February, 2001)

  NATALIA D SUMPTION, JOHN C K BARBER
• Keratosis pilaris/ulerythema ophryogenes and 18p deletion: is it possible that theLAMA1 gene is involved?

  (1 February, 2001)

  CHRISTOS C ZOUBOULIS, CONSTANTINE A STRATAKIS, H P M GOLLNICK, CONSTANTIN E ORFANOS
• Molecular characterisation of a proximal chromosome 18q deletion (1 February, 2001)

  M McENTAGART, A CAREY, C BREEN, S McQUAID, R L STALLINGS, A J GREEN, M D KING
• Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning

  (1 February, 2001)

  KIMBERLEY J FLINTOFF, EAMONN SHERIDAN, GWEN TURNER, CAROL E CHU, GRAHAM R TAYLOR
• Homozygosity for a splice site mutation of the COL1A2gene yields a non-functional proα2(I) chain and an EDS/OI clinical phenotype

  (1 February, 2001)

  A C NICHOLLS, D VALLER, S WALLIS, F M POPE
• Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland

  (1 February, 2001)

  DAVID HUGHES, THILO DÖRK, MANFRED STUHRMANN, COLIN GRAHAM
• Risk perception and cancer worry: an exploratory study of the impact of genetic risk counselling in women with a family history of breast cancer (1 February, 2001)

  P HOPWOOD, A SHENTON, F LALLOO, D G R EVANS, A HOWELL