A Maternally Methylated CpG Island in KvLQT1 Is Associated with an Antisense Paternal Transcript and Loss of Imprinting in Beckwith-Wiedemann Syndrome

Autor: Smilinich, Nancy J., Day, Colleen D., Fitzpatrick, Galina V., Caldwell, Germaine M., Lossie, Amy C., Cooper, P. R., Smallwood, Allan C., Joyce, Johanna A., Schofield, Paul N., Reik, Wolf, Nicholls, Robert D., Weksberg, Rosanna, Driscoll, D. J., Maher, Eamonn R., Shows, Thomas B., Higgins, Michael J.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 1999 Jul . 96(14), 8064-8069.

Externí odkaz: https://www.jstor.org/stable/48427

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Human genetics of cardiomyopathies

Autor: Vermeer, Alexa M. C., Wilde, Arthur A. M., Christiaans, Imke, Rickert-Sperling, Silke, Kelly, Robert G., Driscoll, D. J.

Publikováno v: Congenital heart diseases: the broken heart; clinical features, human genetics and molecular pathways, 675-686
STARTPAGE=675;ENDPAGE=686;TITLE=Congenital heart diseases: the broken heart; clinical features, human genetics and molecular pathways
Congenital Heart Diseases: The Broken Heart, 675-686
ISSUE=1;STARTPAGE=675;ENDPAGE=686;TITLE=Congenital Heart Diseases
Congenital Heart Diseases: The Broken Heart ISBN: 9783709118825

Over the past few decades, there has been notable progress in knowledge and implication of genetics in cardiomyopathies. Twenty-five years ago we started to recognize the genes; nowadays dozens ‑of genes associated with cardiomyopathies have been d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4ac6cbf6b58a6e2d0d3eddf6f32e36c
https://pure.amc.nl/en/publications/human-genetics-of-cardiomyopathies(81ca527b-bfd0-447c-b326-d84e8440e829).html

A reduced-energy intake, well-balanced diet improves weight control in children with Prader-Willi syndrome

Autor: Miller, J. L., Lynn, C. H., Shuster, J., Driscoll, D. J.

Children with Prader-Willi syndrome (PWS) have a predictable pattern of weight gain, with obesity beginning in early childhood and worsening as they get older and hyperphagia increases. Data on the most effective dietary modifications are scant and p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ef67714ef51d44ca839869ee3ac5c591
https://europepmc.org/articles/PMC4112078/

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.