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 ).

الإتاحة: https://doi.org/10.1097/MCD.0000000000000375Test
https://eprints.soton.ac.uk/451767Test/
https://eprints.soton.ac.uk/451767/1/Silver_Russell_syndrome_8q12.1_deletion.docTest

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

الإتاحة: https://hal.science/hal-04027182Test
https://hal.science/hal-04027182/documentTest
https://hal.science/hal-04027182/file/Saal%202019%20Gene%20Review.pdfTest

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

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

الإتاحة: https://doi.org/10.1126/sciadv.aau9425Test

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

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

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

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

الإتاحة: https://doi.org/10.1038/nrendo.2016.138Test
https://doi.org/10.18154/RWTH-CONV-212982Test
https://publications.rwth-aachen.de/record/686615Test
https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-212982%22Test

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

الإتاحة: https://doi.org/10.1136/jmedgenet-2017-104919Test

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