Table of contents

Letters to JMG

• Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD

  (1 November, 2002)

  Y Watanabe, D W Benson, S Yano, T Akagi, M Yoshino, J C Murray
• Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene (1 November, 2002)

  R Horváth, C Scharfe, M Hoeltzenbein, B H Do, C Schröder, R Warzok, S Vogelgesang, H Lochmüller, J Müller-Höcker, K D Gerbitz, P J Oefner, M Jaksch
• Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families

  (1 November, 2002)

  S Gad, M Klinger, V Caux-Moncoutier, S Pages-Berhouet, M Gauthier-Villars, I Coupier, A Bensimon, A Aurias, D Stoppa-Lyonnet
• Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles

  (1 November, 2002)

  W Ju, R Zhong, S Moore, D Moroziewicz, J R Currie, P Parfrey, W T Brown, N Zhong
• Family history of breast cancer as a determinant of the risk of developing endometrial cancer: a nationwide cohort study (1 November, 2002)

  N Kazerouni, C Schairer, H B Friedman, J V Lacey, M H Greene
• Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation

  (1 November, 2002)

  A Wagner, C Tops, J T Wijnen, K Zwinderman, C van der Meer, M Kets, M F Niermeijer, J G M Klijn, A Tibben, H F A Vasen, H Meijers-Heijboer
• Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome (1 November, 2002)

  C Lagier-Tourenne, D Chaigne, J Gong, J Flori, M Mohr, D Ruh, D Christmann, J Flament, J-L Mandel, M Koenig, H Dollfus
• Promoter polymorphisms in the CD14 receptor gene and their potential association with the severity of chronic periodontitis (1 November, 2002)

  L I Holla, D Buckova, A Fassmann, T Halabala, A Vasku, J Vacha
• Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib (1 November, 2002)

  S Vuillaumier-Barrot, C Le Bizec, P de Lonlay, A Barnier, G Mitchell, V Pelletier, C Prevost, J M Saudubray, G Durand, N Seta
• Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13

  (1 November, 2002)

  P Debeer, C Bacchelli, P J Scambler, L De Smet, J-P Fryns, F R Goodman
• Behavioural complaints in participants who underwent predictive testing for Huntington’s disease (1 November, 2002)

  M-N W Witjes-Ané, A H Zwinderman, A Tibben, G-J B van Ommen, R A C Roos