Five new TTF1/NKX2.1 mutations in brainlungthyroid syndrome: rescue by PAX8 synergism in one case

By Carr Aurore   Szinnai Gabor   Castanet Mireille   Sura-Trueba Sylvia   Tron Elodie   Broutin-LHermite Isabelle   Barat Pascal   Goizet Cyril   Lacombe Didier   Moutard Marie-Laure   Raybaud Christine   Raynaud-Ravni Catherine   Romana Serge   Ythier Hubert   Lger Juliane   Polak Michel  

Human Molecular Genetics, Vol. 18, Iss. 12, 2009-06 ,pp. : 2266-2276

Oxford University Press

Access to resources Recommend Favorite

Readthrough Strategies for Therapeutic Suppression of Nonsense Mutations in Inherited Metabolic Disease

By  

Molecular Syndromology, Vol. 3, Iss. 5, 2012-10 ,pp. : 230-236

Karger

Access to resources Recommend Favorite

Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2 1Neu +/– mutant mice

By Porteous Sarah   Torban Elena  

Human Molecular Genetics, Vol. 9, Iss. 1, 2000-01 ,pp. : 1-11

Oxford University Press

Access to resources Recommend Favorite

Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease

By St George-Hyslop P.H.  

Human Molecular Genetics, Vol. 7, Iss. 1, 1998-01 ,pp. : 43-51

Oxford University Press

Access to resources Recommend Favorite

PGC-1/ upregulation is associated with improved oxidative phosphorylation in cells harboring nonsense mtDNA mutations

By Srivastava Sarika   Barrett John N.   Moraes Carlos T.  

Human Molecular Genetics, Vol. 16, Iss. 8, 2007-04 ,pp. : 993-1005

Oxford University Press

Access to resources Recommend Favorite