Endocrine cancer

Arteriovenous malformations in Cowden syndrome
M M Turnbull, V Humeniuk, B Stein, G K Suthers

Journal of Medical Genetics Aug 2005, 42 (8) e50; DOI: 10.1136/jmg.2004.030569
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
Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients
A Cebrián, S Ruiz-Llorente, A Cascón, M Pollán, J J Díez, A Picó, D Tellería, J Benítez, M Robledo

Journal of Medical Genetics May 2003, 40 (5) e72; DOI: 10.1136/jmg.40.5.e72
Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes
C Bauters, M-C Vantyghem, E Leteurtre, M-F Odou, C Mouton, N Porchet, J-L Wemeau, C Proye, P Pigny

Journal of Medical Genetics Jun 2003, 40 (6) e75; DOI: 10.1136/jmg.40.6.e75
PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex
F Sandrini, L S Kirschner, T Bei, C Farmakidis, J Yasufuku-Takano, K Takano, T R Prezant, S J Marx, W E Farrell, R N Clayton, L Groussin, J Bertherat, C A Stratakis

Journal of Medical Genetics Dec 2002, 39 (12) e78; DOI: 10.1136/jmg.39.12.e78
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

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