Neurology

Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease
T R Olsen, L Tranebjærg, E A Kvittingen, L Hagenfeldt, C Møller, Ø Nilssen

Journal of Medical Genetics Sep 2002, 39 (9) e55; DOI: 10.1136/jmg.39.9.e55
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
Molecular characterisation of a supernumerary ring chromosome in a patient with VATER association
ROBERTA CINTI, MANUELA PRIOLO, MARGHERITA LERONE, GIORGIO GIMELLI, MARCO SERI, MARGHERITA SILENGO, ROBERTO RAVAZZOLO

Journal of Medical Genetics Feb 2001, 38 (2) e6; DOI: 10.1136/jmg.38.2.e6
13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients
Lucia Ballarati, Elena Rossi, Maria Teresa Bonati, Stefania Gimelli, Paola Maraschio, Palma Finelli, Sabrina Giglio, Elisabetta Lapi, Maria Francesca Bedeschi, Silvana Guerneri, Giulia Arrigo, Maria Grazia Patricelli, Teresa Mattina, Oriana Guzzardi, Vanna Pecile, Adalgisa Police, Gioacchino Scarano, Lidia Larizza, Orsetta Zuffardi, Daniela Giardino

Journal of Medical Genetics Jan 2007, 44 (1) e60; DOI: 10.1136/jmg.2006.043059
Pure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephaly
S Andries, D Sartenaer, K Rack, S Rombout, D Tuerlinckx, Y Gillerot, L Van Maldergem

Journal of Medical Genetics Oct 2002, 39 (10) e60; DOI: 10.1136/jmg.39.10.e60
Multicolour FISH fine mapping unravels an insertion as a complex chromosomal rearrangement involving six breakpoints and a 5.89 Mb large deletion
J Kraus, M Cohen, M R Speicher

Journal of Medical Genetics May 2003, 40 (5) e60; DOI: 10.1136/jmg.40.5.e60
A rare case of a de novo dup(19q) associated with a mild phenotype
M Qorri, P Oei, H Dockery, J McGaughran

Journal of Medical Genetics Oct 2002, 39 (10) e61; DOI: 10.1136/jmg.39.10.e61
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome
D Beltran-Valero de Bernabé, T Voit, C Longman, A Steinbrecher, V Straub, Y Yuva, R Herrmann, J Sperner, C Korenke, C Diesen, W B Dobyns, H G Brunner, H van Bokhoven, M Brockington, F Muntoni

Journal of Medical Genetics May 2004, 41 (5) e61; DOI: 10.1136/jmg.2003.013870
Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis
K Mayer, M Goedbloed, K van Zijl, M Nellist, H-D Rott

Journal of Medical Genetics May 2004, 41 (5) e64; DOI: 10.1136/jmg.2003.010835
Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip
V Shotelersuk, C Ittiwut, P Siriwan, A Angspatt

Journal of Medical Genetics May 2003, 40 (5) e64; DOI: 10.1136/jmg.40.5.e64

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