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1دورية أكاديمية
المؤلفون: Fernández-fructuoso, José Ramón, De La Torre-sandoval, Cristina, Harbison, Madeleine D., Chantot-bastaraud, Sandra, Temple, Karen, Lloreda-garcia, Jose Maria, Olmo-sanchez, Maria, Netchine, Irene
وصف الملف: text
العلاقة: https://eprints.soton.ac.uk/451767/1/Silver_Russell_syndrome_8q12.1_deletion.docTest; Fernández-fructuoso, José Ramón, De La Torre-sandoval, Cristina, Harbison, Madeleine D., Chantot-bastaraud, Sandra, Temple, Karen, Lloreda-garcia, Jose Maria, Olmo-sanchez, Maria and Netchine, Irene (2021) Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1. Clinical Dysmorphology, 30 (4), 194-196. (doi:10.1097/MCD.0000000000000375 ).
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2كتاب
المؤلفون: Saal, Howard, M, Harbison, Madeleine, D, Netchine, Irene
المساهمون: Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)
المصدر: GeneReviews ; https://hal.science/hal-04027182Test ; GeneReviews, 2019
مصطلحات موضوعية: [SDV]Life Sciences [q-bio]
العلاقة: hal-04027182; https://hal.science/hal-04027182Test; https://hal.science/hal-04027182/documentTest; https://hal.science/hal-04027182/file/Saal%202019%20Gene%20Review.pdfTest
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3دورية أكاديمية
المؤلفون: Habib, Walid, Abi, Brioude, Frédéric, Azzi, Salah, Rossignol, Sylvie, Linglart, Agnès, Sobrier, Marie-Laure, Giabicani, Eloïse, Steunou, Virginie, Harbison, Madeleine, D, Le Bouc, Yves, Netchine, Irène
المساهمون: Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Les Hôpitaux Universitaires de Strasbourg (HUS), Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Icahn School of Medicine at Mount Sinai New York (MSSM)
المصدر: ISSN: 2375-2548 ; Science Advances ; https://hal.sorbonne-universite.fr/hal-02090873Test ; Science Advances , 2019, 5 (2), pp.eaau9425. ⟨10.1126/sciadv.aau9425⟩.
مصطلحات موضوعية: [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]
العلاقة: hal-02090873; https://hal.sorbonne-universite.fr/hal-02090873Test; https://hal.sorbonne-universite.fr/hal-02090873/documentTest; https://hal.sorbonne-universite.fr/hal-02090873/file/eaau9425.full.pdfTest
الإتاحة: https://doi.org/10.1126/sciadv.aau9425Test
https://hal.sorbonne-universite.fr/hal-02090873Test
https://hal.sorbonne-universite.fr/hal-02090873/documentTest
https://hal.sorbonne-universite.fr/hal-02090873/file/eaau9425.full.pdfTest -
4دورية أكاديمية
المؤلفون: Abi Habib, Walid, Brioude, Frédéric, Azzi, Salah, Rossignol, Sylvie, Linglart, Agnès, Sobrier, Marie-Laure, Giabicani, Éloïse, Steunou, Virginie, Harbison, Madeleine D., Le Bouc, Yves, Netchine, Irène
المساهمون: FP7 People: Marie-Curie Actions, Agence Nationale de la Recherche, Institut national de la santé et de la recherche médicale, Novo Nordisk, Université Pierre et Marie Curie, Société Française d’Endocrinologie et Diabétologie Pédiatrique
المصدر: Science Advances ; volume 5, issue 2 ; ISSN 2375-2548
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5دورية أكاديمية
المؤلفون: Habib, Walid, Abi, Brioude, Frédéric, Edouard, Thomas, Bennett, James T., Lienhardt-Roussie, Anne, Tixier, Frédérique, Salem, Jennifer, Yuen, Tony, Azzi, Salah, Le Bouc, Yves, Harbison, Madeleine, D, Netchine, Irène
المساهمون: Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Physiopathologie Toulouse Purpan (CPTP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), University of Washington Seattle, CHU Limoges, Hôpital Debrousse, Hospices Civils de Lyon (HCL), Icahn School of Medicine at Mount Sinai New York (MSSM)
المصدر: ISSN: 1098-3600.
مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis
العلاقة: hal-01737991; https://hal.sorbonne-universite.fr/hal-01737991Test; https://hal.sorbonne-universite.fr/hal-01737991/documentTest; https://hal.sorbonne-universite.fr/hal-01737991/file/gim2017105.pdfTest
الإتاحة: https://doi.org/10.1038/gim.2017.105Test
https://hal.sorbonne-universite.fr/hal-01737991Test
https://hal.sorbonne-universite.fr/hal-01737991/documentTest
https://hal.sorbonne-universite.fr/hal-01737991/file/gim2017105.pdfTest -
6دورية أكاديمية
المؤلفون: Wakeling, Emma L, Brioude, Frédéric, Lokulo-Sodipe, Oluwakemi, O'Connell, Susan M, Salem, Jennifer, Bliek, Jet, Canton, Ana P M, Chrzanowska, Krystyna H, Davies, Justin H, Dias, Renuka P, Dubern, Béatrice, Elbracht, Miriam, Giabicani, Eloise, Grimberg, Adda, Grønskov, Karen, Hokken-Koelega, Anita C S, Jorge, Alexander A, Kagami, Masayo, Linglart, Agnes, Maghnie, Mohamad, Mohnike, Klaus, Monk, David, Moore, Gudrun E, Murray, Philip G, Ogata, Tsutomu, Petit, Isabelle Oliver, Russo, Silvia, Said, Edith, Toumba, Meropi, Tümer, Zeynep, Binder, Gerhard, Eggermann, Thomas, Harbison, Madeleine D, Temple, I Karen, Mackay, Deborah J G, Netchine, Irène
المصدر: 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 ....
مصطلحات موضوعية: Disease Management, Gonadotropin-Releasing Hormone/therapeutic use, Human Growth Hormone/therapeutic use, Humans, Internationality, Silver-Russell Syndrome/diagnosis
الإتاحة: https://doi.org/10.1038/nrendo.2016.138Test
https://research.manchester.ac.uk/en/publications/25d7817c-607b-40ab-8395-3694686df30bTest -
7دورية أكاديمية
المؤلفون: Abi Habib, Walid, Brioude, Frederic, Azzi, Salah, Salem, Jennifer, das Neves, Cristina, Personnier, Claire, Chantot-Bastaraud, Sandra, Keren, Boris, Le Bouc, Yves, Harbison, Madeleine, D, Netchine, Irene
المساهمون: Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), The Babraham Institute Cambridge, UK, CHI Poissy-Saint-Germain, Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Icahn School of Medicine at Mount Sinai New York (MSSM), This work was supported by the Institut National de la Santé Et de la Recherche Médicale (INSERM),funding from the Université Pierre et Marie Curie (UPMC-Paris6), the Agence Nationale de laRecherche (ANR EPIFEGRO 2010), a Pfizer grant, and a 2010 grant from Agence de Biomédecine.WAH was supported by the People Programme (Marie Curie Actions) of the European Union's SeventhFramework Programme FP7/ITN Ingenium 2007-2013/ under REA grant agreement n° 290123 and bythe Société Française d'Endocrinologie et Diabétologie Pédiatrique with a Lilly grant.F.B was supported by Novonordisk Grant « Growth Hormone, Growth and Metabolism ».
المصدر: ISSN: 1059-7794.
مصطلحات موضوعية: IGF2/H19 imprinted domain, imprinting control region 1, deletions, hypomethylation, Silver-Russell syndrome, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27701793; hal-04026539; https://hal.science/hal-04026539Test; https://hal.science/hal-04026539/documentTest; https://hal.science/hal-04026539/file/Habib_et_al-2016-Human_Mutation.pdfTest; PUBMED: 27701793; WOS: 000390349700013
الإتاحة: https://doi.org/10.1002/humu.23131Test
https://hal.science/hal-04026539Test
https://hal.science/hal-04026539/documentTest
https://hal.science/hal-04026539/file/Habib_et_al-2016-Human_Mutation.pdfTest -
8دورية أكاديمية
المؤلفون: Wakeling, Emma L., Brioude, Frédéric, Dubern, Béatrice, Elbracht, Miriam, Giabicani, Eloise, Grimberg, Adda, Grønskov, Karen, Hokken-Koelega, Anita C. S., Jorge, Alexander A., Kagami, Masayo, Linglart, Agnes, Maghnie, Mohamad, Lokulo-Sodipe, Oluwakemi, Mohnike, Klaus, Monk, David, Moore, Gudrun E., Murray, Philip G., Ogata, Tsutomu, Petit, Isabelle Oliver, Russo, Silvia, Said, Edith, Toumba, Meropi, Tümer, Zeynep, O'Connell, Susan M., Binder, Gerhard, Eggermann, Thomas, Harbison, Madeleine D., Temple, I. Karen, Mackay, Deborah J. G., Netchine, Irène, Salem, Jennifer, Bliek, Jet, Canton, Ana P. M., Chrzanowska, Krystyna H., Davies, Justin H., Dias, Renuka P.
المصدر: Nature reviews / Endocrinology 13(2), 105-124 (2017). doi:10.1038/nrendo.2016.138
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:27585961; info:eu-repo/semantics/altIdentifier/wos/WOS:000392558600009; info:eu-repo/semantics/altIdentifier/issn/1759-5037; info:eu-repo/semantics/altIdentifier/issn/1759-5029; info:eu-repo/semantics/altIdentifier/issn/1745-8374; info:eu-repo/semantics/altIdentifier/issn/1745-8366; https://publications.rwth-aachen.de/record/686615Test; https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-212982%22Test
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9دورية أكاديمية
المؤلفون: Heide, Solveig, Chantot-Bastaraud, Sandra, Keren, Boris, Harbison, Madeleine D, Azzi, Salah, Rossignol, Sylvie, Michot, Caroline, Lackmy-Port Lys, Marilyn, Demeer, Bénédicte, Heinrichs, Claudine, Newfield, Ron S, Sarda, Pierre, Van Maldergem, Lionel, Trifard, Véronique, Giabicani, Eloise, Siffroi, Jean-Pierre, Le Bouc, Yves, Netchine, Irène, Brioude, Frédéric
المصدر: Journal of Medical Genetics ; volume 55, issue 3, page 205-213 ; ISSN 0022-2593 1468-6244
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10دورية أكاديمية
المؤلفون: Wakeling, Emma L., Brioude, Frédéric, Lokulo-Sodipe, Oluwakemi, O'Connell, Susan M., Salem, Jennifer, Bliek, Jet, Canton, Ana P. M., Chrzanowska, Krystyna H., Davies, Justin H., Dias, Renuka P., Dubern, Béatrice, Elbracht, Miriam, Giabicani, Eloise, Grimberg, Adda, Grønskov, Karen, Hokken-Koelega, Anita C. S., Jorge, Alexander A., Kagami, Masayo, Linglart, Agnes, Maghnie, Mohamad, Mohnike, Klaus, Monk, David, Moore, Gudrun E., Murray, Philip G., Ogata, Tsutomu, Petit, Isabelle Oliver, Russo, Silvia, Said, Edith, Toumba, Meropi, Tümer, Zeynep, Binder, Gerhard, Eggermann, Thomas, Harbison, Madeleine D., Temple, I. Karen, Mackay, Deborah J. G., Netchine, Irène
المصدر: Nature Reviews Endocrinology ; volume 13, issue 2, page 105-124 ; ISSN 1759-5029 1759-5037
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1038/nrendo.2016.138Test
http://www.nature.com/articles/nrendo.2016.138.pdfTest
http://www.nature.com/articles/nrendo.2016.138Test