Diagnostics

Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15
D Poyatos, M Guitart, E Gabau, C Brun, M Mila, J Vaquerizo, M D Coll

Journal of Medical Genetics Feb 2002, 39 (2) e4; DOI: 10.1136/jmg.39.2.e4
Inositol and folate resistant neural tube defects
P Cavalli, A J Copp

Journal of Medical Genetics Feb 2002, 39 (2) e5; DOI: 10.1136/jmg.39.2.e5
Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations
G Barbi, E Rossier, S Vossbeck, H Hummler, D Lang, F Flock, R Terinde, J Wirth, W Vogel, H Kehrer-Sawatzki

Journal of Medical Genetics Feb 2002, 39 (2) e6; DOI: 10.1136/jmg.39.2.e6
A case of Costello syndrome and glycogen storage disease type III
M Kaji, K Kurokawa, T Hasegawa, K Oguro, A Saito, T Fukuda, M Ito, H Sugie

Journal of Medical Genetics Feb 2002, 39 (2) e8; DOI: 10.1136/jmg.39.2.e8
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions
J Körkkö, I Kaitila, L Lönnqvist, L Peltonen, L Ala-Kokko

Journal of Medical Genetics Jan 2002, 39 (1) 34-41; DOI: 10.1136/jmg.39.1.34
Association of polymorphisms and allelic combinations in the tumour necrosis factor-α-complement MHC region with coronary artery disease
C Szalai, G Füst, J Duba, J Kramer, L Romics, Z Prohászka, A Császár

Journal of Medical Genetics Jan 2002, 39 (1) 46-51; DOI: 10.1136/jmg.39.1.46
A common ancestral haplotype in carrier chromosomes from different ethnic backgrounds in vacuolating megalencephalic leucoencephalopathy with subcortical cysts
Y Shinar, B Ben-Zeev, N Brand, H Lahat, V Gross-Zur, D MacGregor, T Bahan, D L Kastner, E Pras

Journal of Medical Genetics Jan 2002, 39 (1) 54-57; DOI: 10.1136/jmg.39.1.54
Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families
K Becker, PL Beales, D M Calver, G Matthijs, S N Mohammed

Journal of Medical Genetics Jan 2002, 39 (1) 68-71; DOI: 10.1136/jmg.39.1.68
Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance
W Courtens, A-B Johansson, B Dachy, F Avni, N Telerman-Toppet, H Scheffer

Journal of Medical Genetics Jan 2002, 39 (1) 74-77; DOI: 10.1136/jmg.39.1.74
Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions
Megan P Hitchins, Philip Stanier, Michael A Preece, Gudrun E Moore

Journal of Medical Genetics Dec 2001, 38 (12) 810-819; DOI: 10.1136/jmg.38.12.810

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