Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 7, 2015-07 ,pp. : 1565-1569

John Wiley & Sons Inc

Access to resources Recommend Favorite

A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects

By Johnstone Karen A.   DuBose Amanda J.   Futtner Christopher R.   Elmore Michael D.   Brannan Camilynn I.   Resnick James L.  

Human Molecular Genetics, Vol. 15, Iss. 3, 2006-02 ,pp. : 393-404

Oxford University Press

Access to resources Recommend Favorite

Parametric Approach to Genomic Imprinting Analysis with Applications to Angelman’s Syndrome

By  

Human Heredity, Vol. 59, Iss. 1, 2005-04 ,pp. : 26-33

Karger

Access to resources Recommend Favorite

Somatic mosaicism contributes to phenotypic variation in Timothy syndrome

By  

American Journal Of Medical Genetics Part A, Vol. 155, Iss. 10, 2011-10 ,pp. : 2578-2583

John Wiley & Sons Inc

Access to resources Recommend Favorite

The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and containsan upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion

By Färber C.   Dittrich B.   Buiting K.   Horsthemke B.  

Human Molecular Genetics, Vol. 8, Iss. 2, 1999-02 ,pp. : 337-343

Oxford University Press

Access to resources Recommend Favorite