Ethics

Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome
D G R Evans, J M Birch, M Thorneycroft, G McGown, F Lalloo, J M Varley

Journal of Medical Genetics Dec 2002, 39 (12) 941-944; DOI: 10.1136/jmg.39.12.941
Physical and psychomotor development of 1799 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype
I Witters, P Moerman, A Van Assche, J-P Fryns

Journal of Medical Genetics Dec 2002, 39 (12) e75; DOI: 10.1136/jmg.39.12.e75
Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA^Ser(UCN) gene
F J del Castillo, M Villamar, M A Moreno-Pelayo, J J Almela, C Morera, I Adiego, F Moreno, I del Castillo

Journal of Medical Genetics Dec 2002, 39 (12) e82; DOI: 10.1136/jmg.39.12.e82
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
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
W Ju, R Zhong, S Moore, D Moroziewicz, J R Currie, P Parfrey, W T Brown, N Zhong

Journal of Medical Genetics Nov 2002, 39 (11) 822-825; DOI: 10.1136/jmg.39.11.822
CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia
M N Slimane, S Lestavel, V Clavey, F Maatouk, M H Ben Fahrat, J C Fruchart, M Hammami, P Benlian

Journal of Medical Genetics Nov 2002, 39 (11) e74; DOI: 10.1136/jmg.39.11.e74
Constitutional alterations of the ATM gene in early onset sporadic breast cancer
P Maillet, H Bonnefoi, G Vaudan-Vutskits, B Pajk, T Cufer, W D Foulkes, P O Chappuis, A-P Sappino

Journal of Medical Genetics Oct 2002, 39 (10) 751-753; DOI: 10.1136/jmg.39.10.751
Molecular screening for Smith-Magenis syndrome among patients with mental retardation of unknown cause
J L Struthers, N Carson, M McGill, M M Khalifa

Journal of Medical Genetics Oct 2002, 39 (10) e59; DOI: 10.1136/jmg.39.10.e59
Cytogenetic analysis of spermatozoa from males aged between 47 and 71 years
N Rives, G Langlois, A Bordes, N Siméon, B Macé

Journal of Medical Genetics Oct 2002, 39 (10) e63; DOI: 10.1136/jmg.39.10.e63
SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation
A Cascón, A Cebrián, S Ruiz-Llorente, D Tellería, J Benítez, M Robledo

Journal of Medical Genetics Oct 2002, 39 (10) e64; DOI: 10.1136/jmg.39.10.e64

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