Diagnostics

Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis
G R Chandak, M M Idris, D N Reddy, S Bhaskar, P V J Sriram, L Singh

Journal of Medical Genetics May 2002, 39 (5) 347-351; DOI: 10.1136/jmg.39.5.347
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)
I Meloni, F Vitelli, L Pucci, R B Lowry, R Tonlorenzi, E Rossi, M Ventura, G Rizzoni, C E Kashtan, B Pober, A Renieri

Journal of Medical Genetics May 2002, 39 (5) 359-365; DOI: 10.1136/jmg.39.5.359
Changes in frequencies of heterozygous thermolabile 5,10-methylenetetrahydrofolate reductase gene in fetuses with neural tube defects
G L Johanning, K D Wenstrom, T Tamura

Journal of Medical Genetics May 2002, 39 (5) 366-367; DOI: 10.1136/jmg.39.5.366
Major difference in aetiology and phenotypic abnormalities between transient and permanent neonatal diabetes
E Marquis, J J Robert, C Bouvattier, C Bellanné-Chantelot, C Junien, C Diatloff-Zito

Journal of Medical Genetics May 2002, 39 (5) 370-374; DOI: 10.1136/jmg.39.5.370
A T to C mutation in the polypyrimidine tract of the exon 9 splicing site of the RB1 gene responsible for low penetrance hereditary retinoblastoma
S H Lefévre, L Chauveinc, D Stoppa-Lyonnet, J Michon, L Lumbroso, P Berthet, D Frappaz, B Dutrillaux, S Chevillard, B Malfoy

Journal of Medical Genetics May 2002, 39 (5) e21; DOI: 10.1136/jmg.39.5.e21
Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints
A Kocks, S Endele, R Heller, B Schröder, H-J Schäfer, C Städtler, M Makrigeorgi-Butera, A Winterpacht

Journal of Medical Genetics May 2002, 39 (5) e23; DOI: 10.1136/jmg.39.5.e23
Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations
C Hernando, A Plaja, M A Rigola, M M Pérez, T Vendrell, J Egocue, C Fuster

Journal of Medical Genetics May 2002, 39 (5) e24; DOI: 10.1136/jmg.39.5.e24
Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome
K H Chrzanowska, M Bekiesinska-Figatowska, S Józwiak

Journal of Medical Genetics May 2002, 39 (5) e25; DOI: 10.1136/jmg.39.5.e25
Leber hereditary optic neuropathy
P Y W Man, D M Turnbull, P F Chinnery

Journal of Medical Genetics Mar 2002, 39 (3) 162-169; DOI: 10.1136/jmg.39.3.162
The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation
R G F Gray, P A Davies, A Marshall, S K Heath

Journal of Medical Genetics Mar 2002, 39 (3) 204-205; DOI: 10.1136/jmg.39.3.204

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