Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jennifer Salem"'
Autor:
Yves Le Bouc, Frédéric Brioude, Tony Yuen, Walid Abi Habib, James T. Bennett, Madeleine D. Harbison, Thomas Edouard, Jennifer Salem, Frédérique Tixier, Anne Lienhardt-Roussie, Salah Azzi, Irène Netchine
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2018, 20 (2), pp.250-258. ⟨10.1038/gim.2017.105⟩
Genetics in Medicine, 2018, 20 (2), pp.250-258. ⟨10.1038/gim.2017.105⟩
Genetics in Medicine, Nature Publishing Group, 2018, 20 (2), pp.250-258. ⟨10.1038/gim.2017.105⟩
Genetics in Medicine, 2018, 20 (2), pp.250-258. ⟨10.1038/gim.2017.105⟩
International audience; Purpose: Fetal growth is a complex process involving maternal, placental and fetal factors. The etiology of fetal growth retardation remains unknown in many cases. The aim of this study is to identify novel human mutations and
Autor:
Claire Personnier, Sandra Chantot-Bastaraud, Walid Abi Habib, Cristina Das Neves, Jennifer Salem, Madeleine D. Harbison, Yves Le Bouc, Irène Netchine, Frédéric Brioude, Boris Keren, Salah Azzi
Publikováno v:
Human Mutation. 38:105-111
The 11p15 region harbors the IGF2/H19 imprinted domain, implicated in fetal and postnatal growth. Silver-Russell syndrome (SRS) is characterized by fetal and postnatal growth failure, and is caused principally by hypomethylation of the 11p15 imprinti
Autor:
Sylvie Rossignol, Walid Abi Habib, Sophie Geoffron, Salah Azzi, Béatrice Dubern, Sandra Chantot-Bastaraud, Isabelle Oliver Petit, Thuy-Ai Vu-Hong, Marie-Noelle Dufourg, Ana Pinheiro Machado Canton, Catherine Pienkowski, Jennifer Salem, Blandine Esteva, Fanny Morice Picard, Bertrand Isidor, Nicole Philip, Frédéric Brioude, Alexandra Afenjar, Julien Thevenon, David Geneviève, Mélanie Fradin, Marlène Rio, Catherine Naud-Saudreau, Irène Netchine, Maithé Tauber, Christel Chalouhi, Tiffanny Busa, Virginie Steunou, Eloise Giabicani, Solveig Heide, Agnès Linglart, Madeleine D. Harbison
Publikováno v:
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2018, 103 (7), pp.2436-2446. ⟨10.1210/jc.2017-02152⟩
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2018, 103 (7), pp.2436-2446. ⟨10.1210/jc.2017-02152⟩
Journal of Clinical Endocrinology and Metabolism, 2018, 103 (7), pp.2436-2446. ⟨10.1210/jc.2017-02152⟩
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2018, 103 (7), pp.2436-2446. ⟨10.1210/jc.2017-02152⟩
International audience; Context - Silver-Russell syndrome (SRS) (mainly secondary to 11p15 molecular disruption) and Temple syndrome (TS) (secondary to 14q32.2 molecular disruption) are imprinting disorders with phenotypic (prenatal and postnatal gro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a8894e7da80c871defde2fe83383cf6
https://hal.science/hal-01926795
https://hal.science/hal-01926795
Autor:
Jennifer Salem, Patrick Tounian, A. Lemoine, Madeleine D. Harbison, Irene Netchine, Béatrice Dubern
Publikováno v:
Journal of pediatric gastroenterology and nutrition. 66(2)
Nutritional management of children with Silver-Russell syndrome (SRS) is crucial, especially before initiating growth hormone therapy. Since cyproheptadine (CYP) has been reported to be orexigenic, we retrospectively investigated the effects of CYP o
Autor:
Frédéric Brioude, I. Karen Temple, Jet Bliek, Adda Grimberg, Thomas Eggermann, Gudrun E. Moore, Agnès Linglart, Klaus Mohnike, Zeynep Tümer, Edith Said, Ana Pinheiro Machado Canton, Renuka P Dias, Oluwakemi Lokulo-Sodipe, Madeleine D. Harbison, Meropi Toumba, Gerhard Binder, Béatrice Dubern, Anita C. S. Hokken-Koelega, Jennifer Salem, Deborah J G Mackay, Susan M. O’Connell, Miriam Elbracht, Irène Netchine, Justin H Davies, David Monk, Silvia Russo, Emma Wakeling, Mohamad Maghnie, Isabelle Oliver Petit, Krystyna H. Chrzanowska, Eloise Giabicani, Philip Murray, Masayo Kagami, Alexander A. L. Jorge, Tsutomu Ogata, Karen Grønskov
Publikováno v:
Nature Reviews Endocrinology
Nature reviews / Endocrinology 13(2), 105-124 (2017). doi:10.1038/nrendo.2016.138
Nature Reviews Endocrinology, 13(2), 105-124. Nature Publishing Group
Nature Reviews Endocrinology, Nature Publishing Group, 2017, 13 (2), pp.105-124. ⟨10.1038/nrendo.2016.138⟩
Nature Reviews Endocrinology, 2017, 13 (2), pp.105-124. ⟨10.1038/nrendo.2016.138⟩
Wakeling, E L, Brioude, F, Lokulo-Sodipe, O, O'Connell, S M, Salem, J, Bliek, J, Canton, A P M, Chrzanowska, K H, Davies, J H, Dias, R P, Dubern, B, Elbracht, M, Giabicani, E, Grimberg, A, Grønskov, K, Hokken-Koelega, A C S, Jorge, A A, Kagami, M, Linglart, A, Maghnie, M, Mohnike, K, Monk, D, Moore, G E, Murray, P G, Ogata, T, Petit, I O, Russo, S, Said, E, Toumba, M, Tümer, Z, Binder, G, Eggermann, T, Harbison, M D, Temple, I K, Mackay, D J G & Netchine, I 2017, ' Diagnosis and management of Silver-Russell syndrome : first international consensus statement ', Nature reviews. Endocrinology, vol. 13, no. 2, pp. 105-124 . https://doi.org/10.1038/nrendo.2016.138
Nature reviews. Endocrinology, 13(2), 105-124. Nature Publishing Group
Nature reviews / Endocrinology 13(2), 105-124 (2017). doi:10.1038/nrendo.2016.138
Nature Reviews Endocrinology, 13(2), 105-124. Nature Publishing Group
Nature Reviews Endocrinology, Nature Publishing Group, 2017, 13 (2), pp.105-124. ⟨10.1038/nrendo.2016.138⟩
Nature Reviews Endocrinology, 2017, 13 (2), pp.105-124. ⟨10.1038/nrendo.2016.138⟩
Wakeling, E L, Brioude, F, Lokulo-Sodipe, O, O'Connell, S M, Salem, J, Bliek, J, Canton, A P M, Chrzanowska, K H, Davies, J H, Dias, R P, Dubern, B, Elbracht, M, Giabicani, E, Grimberg, A, Grønskov, K, Hokken-Koelega, A C S, Jorge, A A, Kagami, M, Linglart, A, Maghnie, M, Mohnike, K, Monk, D, Moore, G E, Murray, P G, Ogata, T, Petit, I O, Russo, S, Said, E, Toumba, M, Tümer, Z, Binder, G, Eggermann, T, Harbison, M D, Temple, I K, Mackay, D J G & Netchine, I 2017, ' Diagnosis and management of Silver-Russell syndrome : first international consensus statement ', Nature reviews. Endocrinology, vol. 13, no. 2, pp. 105-124 . https://doi.org/10.1038/nrendo.2016.138
Nature reviews. Endocrinology, 13(2), 105-124. Nature Publishing Group
International audience; This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dad59c42fe49cc7849f699f27945f17d
https://eprints.soton.ac.uk/399468/
https://eprints.soton.ac.uk/399468/
Autor:
Marilyne Le Jule, Cécile Brachet, Cristina Das Neves, Frédéric Brioude, Claudine Heinrichs, Walid Abi Habib, Virginie Steunou, Irène Netchine, Salah Azzi, Madeleine D. Harbison, Annick Blaise, Yves Le Bouc, Nathalie Thibaud, Sylvie Rossignol, Jennifer Salem
Publikováno v:
Human Mutation. 35:1211-1220
Russell-Silver Syndrome (RSS) is a prenatal and postnatal growth retardation syndrome caused mainly by 11p15 ICR1 hypomethylation. Clinical presentation is heterogeneous in RSS patients with 11p15 ICR1 hypomethylation. We previously identified a subs
Autor:
Jennifer Salem, Eli Lieber, Salah Azzi, Sandra Chantot-Bastaraud, Madeleine D. Harbison, Nathalie Thibaud, Irène Netchine
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2015, 52 (7), pp.446-453. ⟨10.1136/jmedgenet-2014-102979⟩
Journal of Medical Genetics, BMJ Publishing Group, 2015, 52 (7), pp.446-453. ⟨10.1136/jmedgenet-2014-102979⟩
Journal of Medical Genetics, 2015, 52 (7), pp.446-453. ⟨10.1136/jmedgenet-2014-102979⟩
Journal of Medical Genetics, BMJ Publishing Group, 2015, 52 (7), pp.446-453. ⟨10.1136/jmedgenet-2014-102979⟩
International audience; Background Multiple clinical scoring systems have been proposed for Silver-Russell syndrome (SRS). Here we aimed to test a clinical scoring system for SRS and to analyse the correlation between (epi)genotype and phenotype. Sub
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd444b2357ff581559e59e5f05959e68
https://hal.sorbonne-universite.fr/hal-01293084/document
https://hal.sorbonne-universite.fr/hal-01293084/document