Adrenal disorders

Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness
K Nozu, T Inagaki, X J Fu, Y Nozu, H Kaito, K Kanda, T Sekine, T Igarashi, K Nakanishi, N Yoshikawa, K Iijima, M Matsuo

Journal of Medical Genetics Mar 2008, 45 (3) 182-186; DOI: 10.1136/jmg.2007.052944
Estimating the age of rare disease mutations: the example of Triple-A syndrome
E Genin, A Tullio-Pelet, F Begeot, S Lyonnet, L Abel

Journal of Medical Genetics Jun 2004, 41 (6) 445-449; DOI: 10.1136/jmg.2003.017962
Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress
Ariella Weinberg-Shukron, Abdulsalam Abu-Libdeh, Fouad Zhadeh, Liran Carmel, Aviram Kogot-Levin, Lara Kamal, Moien Kanaan, Sharon Zeligson, Paul Renbaum, Ephrat Levy-Lahad, David Zangen

Journal of Medical Genetics Sep 2015, 52 (9) 636-641; DOI: 10.1136/jmedgenet-2015-103078
A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22)
Antony R Lafferty, David J Torpy, Michael Stowasser, Susan E Taymans, Jing Ping Lin, Philip Huggard, Richard D Gordon, Constantine A Stratakis

Journal of Medical Genetics Nov 2000, 37 (11) 831-835; DOI: 10.1136/jmg.37.11.831
Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load
L-J C Wong, C-L Perng, C-H Hsu, R-K Bai, S Schelley, G D Vladutiu, H Vogel, G M Enns

Journal of Medical Genetics Nov 2003, 40 (11) e125; DOI: 10.1136/jmg.40.11.e125
Evidence for linkage and association of the markers near the LPL gene with hypertension in Chinese families
W J Yang, J F Huang, C L Yao, Z J Fan, D L Ge, W Q Gan, G Y Huang, R T Hui, Y Shen, B Q Qiang, D F Gu

Journal of Medical Genetics May 2003, 40 (5) e57; DOI: 10.1136/jmg.40.5.e57
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
F Brioude, I Oliver-Petit, A Blaise, F Praz, S Rossignol, M Le Jule, N Thibaud, A-M Faussat, M Tauber, Y Le Bouc, I Netchine

Journal of Medical Genetics Dec 2013, 50 (12) 823-830; DOI: 10.1136/jmedgenet-2013-101691

Log in using your username and password

Main menu

Log in using your username and password

You are here

Adrenal disorders