Surgical diagnostic tests

FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly
P A Gupta, D D Wallis, T O Chin, H Northrup, V T Tran-Fadulu, J A Towbin, D M Milewicz

Journal of Medical Genetics May 2004, 41 (5) e56; DOI: 10.1136/jmg.2003.012880
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
Novel sarcoglycan gene mutations in a large cohort of Italian patients
C Boito, M Fanin, G Siciliano, C Angelini, E Pegoraro

Journal of Medical Genetics May 2003, 40 (5) e67; DOI: 10.1136/jmg.40.5.e67
Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene
R Horváth, H Lochmüller, M Hoeltzenbein, J Müller-Höcker, B G Schoser, D Pongratz, M Jaksch

Journal of Medical Genetics Jun 2004, 41 (6) e75; DOI: 10.1136/jmg.2003.015024
Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome
A K Lampe, P J Hampton, K Woodford-Richens, I Tomlinson, C M Lawrence, F S Douglas

Journal of Medical Genetics Jun 2003, 40 (6) e77; DOI: 10.1136/jmg.40.6.e77
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
Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA
A Solano, J Gámez, F J Carod, M Pineda, A Playán, E López-Gallardo, A L Andreu, J Montoya

Journal of Medical Genetics Jul 2003, 40 (7) e86; DOI: 10.1136/jmg.40.7.e86
A germline mutation in KIT in familial diffuse cutaneous mastocytosis
X Tang, M Boxer, A Drummond, P Ogston, M Hodgins, A D Burden

Journal of Medical Genetics Jun 2004, 41 (6) e88; DOI: 10.1136/jmg.2003.015156
Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers
A S Ramalho, S Beck, D Penque, T Gonska, H H Seydewitz, M Mall, M D Amaral

Journal of Medical Genetics Jul 2003, 40 (7) e88; DOI: 10.1136/jmg.40.7.e88

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