JMG Online mutation reports

A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability
O Caluseriu, C Di Gregorio, E Lucci-Cordisco, M Santarosa, J Trojan, A Brieger, P Benatti, M Pedroni, T Colibazzi, A Bellacosa, G Neri, M Ponz de Leon, A Viel, M Genuardi

Journal of Medical Genetics Mar 2004, 41 (3) e34; DOI: 10.1136/jmg.2003.013714
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction
M C Richards, S E Heron, H E Spendlove, I E Scheffer, B Grinton, S F Berkovic, J C Mulley, A Davy

Journal of Medical Genetics Mar 2004, 41 (3) e35; DOI: 10.1136/jmg.2003.013938
Genetic and epigenetic profile of sporadic pheochromocytomas
A Cascon, S Ruiz-Llorente, M F Fraga, R Leton, D Telleria, J Sastre, J Jose Diez, G Martinez Diaz-Guerra, J A Diaz Perez, J Benitez, M Esteller, M Robledo

Journal of Medical Genetics Mar 2004, 41 (3) e30; DOI: 10.1136/jmg.2003.012658
Extending the p16-Leiden tumour spectrum by respiratory tract tumours
R A Oldenburg, W H de Vos tot Nederveen Cappel, M van Puijenbroek, A van den Ouweland, E Bakker, G Griffioen, P Devilee, C J Cornelisse, H Meijers-Heijboer, H F A Vasen, H Morreau

Journal of Medical Genetics Mar 2004, 41 (3) e31; DOI: 10.1136/jmg.2003.012336
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene
M Ghassibé, N Revencu, B Bayet, Y Gillerot, R Vanwijck, C Verellen-Dumoulin, M Vikkula

Journal of Medical Genetics Feb 2004, 41 (2) e15; DOI: 10.1136/jmg.2003.009274
Mowat–Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity
P Cerruti Mainardi, G Pastore, C Zweier, A Rauch

Journal of Medical Genetics Feb 2004, 41 (2) e16; DOI: 10.1136/jmg.2003.009548
Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype
M M O Tonini, R C M Pavanello, J Gurgel-Giannetti, R J Lemmers, S M van der Maarel, R R Frants, M Zatz

Journal of Medical Genetics Feb 2004, 41 (2) e17; DOI: 10.1136/jmg.2003.010637
Loss of five amino acids in BRCA2 is associated with ovarian cancer
S L Martinez, J Herzog, J N Weitzel

Journal of Medical Genetics Feb 2004, 41 (2) e18; DOI: 10.1136/jmg.2003.010827
Mitochondrial DNA deletion in “identical” twin brothers
E L Blakely, L He, R W Taylor, P F Chinnery, R N Lightowlers, A M Schaefer, D M Turnbull

Journal of Medical Genetics Feb 2004, 41 (2) e19; DOI: 10.1136/jmg.2003.011296
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
S Johnson, M Michaelides, I A Aligianis, J R Ainsworth, J D Mollon, E R Maher, A T Moore, D M Hunt

Journal of Medical Genetics Feb 2004, 41 (2) e20; DOI: 10.1136/jmg.2003.011437

Main menu

JMG Online mutation reports

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

JMG Online mutation reports

Pages