Surgical diagnostic tests

Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease
Y M Smulders, B H J Eussen, S Verhoef, C H Wouters

Journal of Medical Genetics Feb 2003, 40 (2) e17; DOI: 10.1136/jmg.40.2.e17
Germline mutation of the tumour suppressor PTEN in Proteus syndrome
J M Smith, E P E Kirk, G Theodosopoulos, G M Marshall, J Walker, M Rogers, M Field, J J Brereton, D J Marsh

Journal of Medical Genetics Dec 2002, 39 (12) 937-940; DOI: 10.1136/jmg.39.12.937
Hereditary duplication of proximal chromosome 1q (q11q22) in a patient with T lymphoblastic lymphoma/leukaemia: a family study using G banding and comparative genomic hybridisation
N P H Chan, M H L Ng, S H Cheng, V Lee, K S Tsang, T T Lau, C K Li

Journal of Medical Genetics Dec 2002, 39 (12) e79; DOI: 10.1136/jmg.39.12.e79
Correlation between a specific Wilms tumour suppressor gene (WT1) mutation and the histological findings in Wilms tumour (WT)
R Shibata, A Hashiguchi, J Sakamoto, T Yamada, A Umezawa, J Hata

Journal of Medical Genetics Dec 2002, 39 (12) e83; DOI: 10.1136/jmg.39.12.e83
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
W Ju, R Zhong, S Moore, D Moroziewicz, J R Currie, P Parfrey, W T Brown, N Zhong

Journal of Medical Genetics Nov 2002, 39 (11) 822-825; DOI: 10.1136/jmg.39.11.822
Family history of breast cancer as a determinant of the risk of developing endometrial cancer: a nationwide cohort study
N Kazerouni, C Schairer, H B Friedman, J V Lacey, M H Greene

Journal of Medical Genetics Nov 2002, 39 (11) 826-832; DOI: 10.1136/jmg.39.11.826
Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation
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

Journal of Medical Genetics Nov 2002, 39 (11) 833-837; DOI: 10.1136/jmg.39.11.833
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain
J C Sánchez-Gutiérrez, T Benlloch, M A Leal, B Samper, I García-Ripoll, J E Felíu

Journal of Medical Genetics Sep 2002, 39 (9) e56; DOI: 10.1136/jmg.39.9.e56
Allelic variants in the 5` non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX)
C Bergmann, K Zerres, S Rudnik-Schöneborn, T Eggermann, J M Schröder, J Senderek

Journal of Medical Genetics Sep 2002, 39 (9) e58; DOI: 10.1136/jmg.39.9.e58
A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7
R Fukuzawa, J Sakamoto, R W Heathcott, J-I Hata

Journal of Medical Genetics Aug 2002, 39 (8) e48; DOI: 10.1136/jmg.39.8.e48

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