Clinical diagnostic tests

The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene
H Jacquet, J Berthelot, C Bonnemains, G Simard, P Saugier-Veber, G Raux, D Campion, D Bonneau, T Frebourg

Journal of Medical Genetics Jan 2003, 40 (1) e7; DOI: 10.1136/jmg.40.1.e7
Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation
S Ogino, R B Wilson, W W Grody

Journal of Medical Genetics May 2004, 41 (5) e70; DOI: 10.1136/jmg.2003.015065
A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia
E Miraglia Del Giudice, G Coppola, G Bellini, P Ledaal, J M Hertz, A Pascotto

Journal of Medical Genetics May 2003, 40 (5) e71; DOI: 10.1136/jmg.40.5.e71
Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients
M P Reboul, E Bieth, M Fayon, N Biteau, R Barbier, C Dromer, M Desgeorges, M Claustres, F Bremont, D Lacombe, A Iron

Journal of Medical Genetics Nov 2002, 39 (11) e73; DOI: 10.1136/jmg.39.11.e73
Is growth hormone treatment beneficial or harmful in Costello syndrome?
B Kerr, M A Einaudi, P Clayton, G Gladman, T Eden, P Saunier, D Genevieve, N Philip

Journal of Medical Genetics Jun 2003, 40 (6) e74; DOI: 10.1136/jmg.40.6.e74
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
Microcephaly-cardiomyopathy syndrome: expansion of the phenotype
K Becker, R Yates

Journal of Medical Genetics Jun 2003, 40 (6) e78; DOI: 10.1136/jmg.40.6.e78
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
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

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