Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders

By Clark Alice R.   Sawyer Gregory M.   Robertson Stephen P.   Sutherland-Smith Andrew J.  

Human Molecular Genetics, Vol. 18, Iss. 24, 2009-12 ,pp. : 4791-4800

Oxford University Press

Access to resources Recommend Favorite

Three‐generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome

By  

American Journal Of Medical Genetics Part A, Vol. 176, Iss. 3, 2018-03 ,pp. : 560-569

John Wiley & Sons Inc

Access to resources Recommend Favorite

Elastin: Genomic Structure and Point Mutations in Patients with Supravalvular Aortic Stenosis

By Tassabehji Mayada   Metcalfe Kay   Donnai Dian   Hurst Jane   Reardon William   Burch Michael   Read Andrew P.  

Human Molecular Genetics, Vol. 6, Iss. 7, 1997-01 ,pp. : 1029-1036

Oxford University Press

Access to resources Recommend Favorite

Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease

By Strauss Karsten M.  

Human Molecular Genetics, Vol. 14, Iss. 15, 2005-08 ,pp. : 2099-2111

Oxford University Press

Access to resources Recommend Favorite

PTHR1 mutations associated with Ollier disease result in receptor loss of function

By Couvineau Alain   Wouters Vinciane   Bertrand Guylne   Rouyer Christiane   Grard Bndicte   Boon Laurence M.   Grandchamp Bernard   Vikkula Miikka   Silve Caroline  

Human Molecular Genetics, Vol. 17, Iss. 18, 2008-09 ,pp. : 2766-2775

Oxford University Press

Access to resources Recommend Favorite