Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Antoinette McAulay"'
Autor:
Aliki Perdikari, Jacek Mokrosinski, Tabitha Randell, I. Sadaf Farooqi, Sharon Lim, Fleur Talbot, Rebecca Bounds, Melanie Kershaw, Deepthi Jyothish, Edson Mendes de Oliveira, Tim Cheetham, Antoinette McAulay, Vikram Ayinampudi, Elizabeth C Crowne, Inês Barroso, Peter T Clayton, Praveen Partha, Cristina Matei, Sanjay Gupta, Louise C Wilson, Elana Henning, Keogh Jm, Rachel Ahmed, Natalia Wasiluk
Publikováno v:
New England Journal of Medicine. 385:1581-1592
Background GNAS encodes the Gαs (stimulatory G-protein alpha subunit) protein, which mediates G protein-coupled receptor (GPCR) signaling. GNAS mutations cause developmental delay, short stature, and skeletal abnormalities in a syndrome called Albri
Autor:
Edson, Mendes de Oliveira, Julia M, Keogh, Fleur, Talbot, Elana, Henning, Rachel, Ahmed, Aliki, Perdikari, Rebecca, Bounds, Natalia, Wasiluk, Vikram, Ayinampudi, Inês, Barroso, Jacek, Mokrosiński, Deepthi, Jyothish, Sharon, Lim, Sanjay, Gupta, Melanie, Kershaw, Cristina, Matei, Praveen, Partha, Tabitha, Randell, Antoinette, McAulay, Louise C, Wilson, Tim, Cheetham, Elizabeth C, Crowne, Peter, Clayton, I Sadaf, Farooqi
Publikováno v:
The New England journal of medicine. 385(17)
We performed exome sequencing and targeted resequencing in 2548 children who presented with severe obesity, and we unexpectedly identified 22Almost allBecause pathogenic mutations may manifest with obesity alone, screening of children with severe obe