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of 6
pro vyhledávání: '"Rachel Ahmed"'
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:
Tessa M Cacciottolo, Elana Henning, Julia M Keogh, Pierre Bel Lassen, Katherine Lawler, Rebecca Bounds, Rachel Ahmed, Aliki Perdikari, Edson Mendes de Oliveira, Miriam Smith, Edmund M Godfrey, Elspeth Johnson, Leanne Hodson, Karine Clément, Agatha A van der Klaauw, I Sadaf Farooqi
Publikováno v:
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2022, ⟨10.1210/clinem/dgac067/6524195⟩
Journal of Clinical Endocrinology and Metabolism, 2022, ⟨10.1210/clinem/dgac067/6524195⟩
Context Genetic variants affecting the nuclear hormone receptor coactivator steroid receptor coactivator, SRC-1, have been identified in people with severe obesity and impair melanocortin signaling in cells and mice. As a result, obese patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4969263f22143723eca8e4abfd413c4
https://hal.sorbonne-universite.fr/hal-03565637/file/dgac067.pdf
https://hal.sorbonne-universite.fr/hal-03565637/file/dgac067.pdf
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
Autor:
Rachel Ahmed Ben Abbes, Catherine Devilliers, Pierre Coriat, Françoise Imbert-Bismut, Yannick Le Manach, Riyadh Omarjee, Mathieu Raux, Dominique Bonnefont-Rousselot, Denis Monneret
Publikováno v:
Clinical Chemistry and Laboratory Medicine (CCLM).
Akademický článek
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Autor:
Monneret, Denis, Abbes, Rachel Ahmed Ben, Omarjee, Riyadh, Devilliers, Catherine, Le Manach, Yannick, Raux, Mathieu, Coriat, Pierre, Imbert-Bismut, Françoise, Bonnefont-Rousselot, Dominique
Publikováno v:
Clinical Chemistry & Laboratory Medicine; Dec2014, Vol. 52 Issue 12, pe279-e282, 4p, 1 Chart, 1 Graph