Dermatology

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers
A Morrone, C Cavicchi, T Bardelli, D Antuzzi, R Parini, M Di Rocco, S Feriozzi, O Gabrielli, R Barone, G Pistone, C Spisni, R Ricci, E Zammarchi

Journal of Medical Genetics Aug 2003, 40 (8) e103; DOI: 10.1136/jmg.40.8.e103
De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones
M B Delatycki, A Danks, A Churchyard, X-P Zhou, C Eng

Journal of Medical Genetics Aug 2003, 40 (8) e92; DOI: 10.1136/jmg.40.8.e92
Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations
E Petek, D E Jenne, J Smolle, B Binder, W Lasinger, C Windpassinger, K Wagner, P M Kroisel, H Kehrer-Sawatzki

Journal of Medical Genetics Jul 2003, 40 (7) 520-525; DOI: 10.1136/jmg.40.7.520
Haplotype analysis of distantly related populations implicates corneodesmosin in psoriasis susceptibility
F Capon, I K Toal, J C Evans, M H Allen, S Patel, D Tillman, D Burden, J N W N Barker, R C Trembath

Journal of Medical Genetics Jun 2003, 40 (6) 447-452; DOI: 10.1136/jmg.40.6.447
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
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes
C A Johnson, P Gissen, C Sergi

Journal of Medical Genetics May 2003, 40 (5) 311-319; DOI: 10.1136/jmg.40.5.311
Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene
P F J Koppens, H J M Smeets, I J de Wijs, H J Degenhart

Journal of Medical Genetics May 2003, 40 (5) e53; DOI: 10.1136/jmg.40.5.e53
A common IL-1 complex haplotype is associated with an increased risk of atopy
T Pessi, J Karjalainen, J Hulkkonen, M M Nieminen, M Hurme

Journal of Medical Genetics May 2003, 40 (5) e66; DOI: 10.1136/jmg.40.5.e66
ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy
R Müllenbach, K J Linton, S Wiltshire, N Weerasekera, J Chambers, E Elias, C F Higgins, D G Johnston, M I McCarthy, C Williamson

Journal of Medical Genetics May 2003, 40 (5) e70; DOI: 10.1136/jmg.40.5.e70
Chromosome 2 (2p16) abnormalities in Carney complex tumours
L Matyakhina, S Pack, L S Kirschner, E Pak, P Mannan, J Jaikumar, S E Taymans, F Sandrini, J A Carney, C A Stratakis

Journal of Medical Genetics Apr 2003, 40 (4) 268-277; DOI: 10.1136/jmg.40.4.268

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