• Issue

    Clinical Genetics: Volume 65, Issue 3

    163-246
    March 2004
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Developmental Biology: Frontiers for Clinical Genetics

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Taking it to the max: The genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology

TC Cox, 
  • Pages: 163-176
  • First Published: 30 January 2004

Hotspots

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Mutations in a G protein-coupled receptor cause hypogonadotropic hypogonadism in humans and mice

MLE MacDonald, 
  • Pages: 177-178
  • First Published: 30 January 2004
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MEF2A at the heart of coronary artery disease?

Lr Brunham, 
  • Pages: 178-180
  • First Published: 30 January 2004
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RUNX1: transcription factor scores a hat-trick of autoimmune diseases

J Coutinho, 
  • Pages: 180-182
  • First Published: 30 January 2004

Original Articles

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Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor

HT Hooper,  BC Figueiredo,  CC Pavan-Senn,  L De Lacerda,  R Sandrini,  JK Mengarelli,  K Japp,  LP Karaviti, 
  • Pages: 183-190
  • First Published: 30 January 2004
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Polymorphisms in cytokines and growth factor genes and their association with acute rejection and recurrence of hepatitis C virus disease in liver transplantation

VR Mas,  a,b RA Fisher,  c DG Maluf,  c KJ Archer,  d,e MJ Contos,  a SA Mills,  a ML Shiffman,  f DS Wilkinson,  a L Oliveros,  d CT Garrett,  a A Ferreira-Gonzalez, 
  • Pages: 191-201
  • First Published: 30 January 2004
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The Δ>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec

LR Simard,  J Viel,  M Lambert,  G Paradis,  E Levy,  EE Delvin,  GA Mitchell, 
  • Pages: 202-208
  • First Published: 30 January 2004

Short Reports

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Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease

YR Wu,  HY Lin,  CM Chen,  K Gwinn-Hardy,  LS Ro,  YC Wang,  SH Li,  JC Hwang,  K Fang,  HM Hsieh-Li,  ML Li,  LC Tung,  MT Su,  KT Lu,  GJ Lee-Chen, 
  • Pages: 209-214
  • First Published: 30 January 2004
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Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations

E Thompson,  CJ Meldrum,  R Crooks,  M McPhillips,  L Thomas,  AD Spigelman,  RJ Scott, 
  • Pages: 215-225
  • First Published: 30 January 2004
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The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations

G Turner,  KM Lower,  SM White,  M Delatycki,  AK Lampe,  M Wright,  J Clayton- Smith,  B Kerr,  S Schelley,  HE Hoyme,  BBA De Vries,  T Kleefstra,  M Grompe,  B Cox,  J Gecz,  M Partington, 
  • Pages: 226-232
  • First Published: 30 January 2004
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Effective long-term control of cardiac events with β-blockers in a family with a common LQT1 mutation

H Wedekind,  M Schwarz,  S Hauenschild,  H Djonlagic,  W Haverkamp,  G Breithardt,  T Wülfing,  O Pongs,  D Isbrandt,  E Schulze-Bahr, 
  • Pages: 233-241
  • First Published: 30 January 2004

Letters to the Editor

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Supernumerary marker 15 chromosome in a patient with Prader–Willi syndrome

D Borelina,  S Esperante,  V Gutnisky,  V Ferreiro,  M Ferrer,  F Giliberto,  G Frechtel,  L Francipane,  I Szijan, 
  • Pages: 242-243
  • First Published: 30 January 2004
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Heterozygous manifestations in female carriers of Mal de Meleda

M Mokni,  C Charfeddine,  R Ben Mously,  D Baccouche,  B Kaabi,  A Ben Osman,  K Dellagi,  S Abdelhak, 
  • Pages: 244-246
  • First Published: 30 January 2004