المؤلفون: Pham, A, Selenou, C, Giabicani, E, Fontaine, V, Marteau, S, Brioude, F, David, L, Mitanchez, D, Sobrier, M, L, Netchine, I

المساهمون: Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition CHU Pitié Salpêtrière (IHU ICAN), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Nantes Université (Nantes Univ), Centre de Recherche en Transplantation et Immunologie - Center for Research in Transplantation and Translational Immunology (U1064 Inserm - CR2TI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Pfizer (Projet ID-STEM), ANR-18-CE12-0022,IMP-REGULOME,Control à différents niveaux de l'empreinte du domaine DLK1-DIO3 dans le developpement et des maladies.(2018), ANR-22-CE14-0021,ID-MOM,Compréhension des mécanismes moléculaires physiopathologiques dans les pathologies d'empreinte par une approche multi-omique dans des modèles cellulaires humains(2022), ANR-10-IAHU-0005,ICAN,Institut de Cardiologie-Métabolisme-Nutrition(2010)

المصدر: ISSN: 1868-7083 ; Clinical Epigenetics ; https://hal.science/hal-03933584Test ; Clinical Epigenetics, 2022, 14, ⟨10.1186/s13148-022-01410-8⟩ ; BMC.

مصطلحات موضوعية: Induced pluripotent stem cells, Imprinting disorders, Parental imprinting, Methylation, Silver-Russell syndrome, Temple syndrome, Chondrogenic differentiation, [SDV]Life Sciences [q-bio]

العلاقة: hal-03933584; https://hal.science/hal-03933584Test; https://hal.science/hal-03933584/documentTest; https://hal.science/hal-03933584/file/Pham%20et%20al%202022%20Clin%20Epigenet%20iPSC%20and%20methylation.pdfTest

الإتاحة: https://doi.org/10.1186/s13148-022-01410-8Test
https://hal.science/hal-03933584Test
https://hal.science/hal-03933584/documentTest
https://hal.science/hal-03933584/file/Pham%20et%20al%202022%20Clin%20Epigenet%20iPSC%20and%20methylation.pdfTest

المؤلفون: Brioude, F, Kalish, JM, Mussa, A, Foster, AC, Bliek, J, Ferrero, GB, Boonen, SE, Cole, T, Baker, R, Bertoletti, M, Cocchi, G, Coze, C, De Pellegrin, M, Hussain, K, Ibrahim, A, Kilby, MD, Krajewska-Walasek, M, Kratz, CP, Ladusans, EJ, Lapunzina, P, Le Bouc, Y, Maas, SM, Macdonald, F, Õunap, K, Peruzzi, L, Rossignol, S, Russo, S, Shipster, C, Skórka, A, Tatton-Brown, K, Tenorio, J, Tortora, C, Grønskov, K, Netchine, I, Hennekam, RC, Prawitt, D, Tümer, Z, Eggermann, T, Mackay, DJG, Riccio, A, Maher, ER

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/109710/1/nrendo.2017.166.pdfTest; Brioude, F; Kalish, JM; Mussa, A; Foster, AC; Bliek, J; Ferrero, GB; Boonen, SE; Cole, T; Baker, R; Bertoletti, M; et al. Brioude, F; Kalish, JM; Mussa, A; Foster, AC; Bliek, J; Ferrero, GB; Boonen, SE; Cole, T; Baker, R; Bertoletti, M; Cocchi, G; Coze, C; De Pellegrin, M; Hussain, K; Ibrahim, A; Kilby, MD; Krajewska-Walasek, M; Kratz, CP; Ladusans, EJ; Lapunzina, P; Le Bouc, Y; Maas, SM; Macdonald, F; Õunap, K; Peruzzi, L; Rossignol, S; Russo, S; Shipster, C; Skórka, A; Tatton-Brown, K; Tenorio, J; Tortora, C; Grønskov, K; Netchine, I; Hennekam, RC; Prawitt, D; Tümer, Z; Eggermann, T; Mackay, DJG; Riccio, A; Maher, ER (2018) Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol, 14 (4). pp. 229-249. ISSN 1759-5037 https://doi.org/10.1038/nrendo.2017.166Test SGUL Authors: Tatton-Brown, Katrina Louise

الإتاحة: https://doi.org/10.1038/nrendo.2017.166Test
https://openaccess.sgul.ac.uk/id/eprint/109710Test/
https://openaccess.sgul.ac.uk/id/eprint/109710/1/nrendo.2017.166.pdfTest

المؤلفون: Wakeling, E. (Emma), Brioude, F. (Frédéric), Lokulo-Sodipe, O. (Oluwakemi), O'Connell, S.M. (Susan M.), Salem, J. (Jennifer), Bliek, J. (Jet), Canton, A.P.M. (Ana P. M.), Chrzanowska, K.H. (Krystyna), Davies, J.H. (Justin H.), Dias, R.P. (Renuka), Dubern, B. (Béatrice), Elbracht, M. (Miriam), Giabicani, E. (Eloise), Grimberg, A., Grønskov, K. (Karen), Hokken-Koelega, A.C.S. (Anita), Jorge, A. (Alexander), Kagami, M. (Masayo), Linglart, A. (Agnes), Maghnie, M. (Mohamad), Mohnike, K. (Klaus), Monk, A.B. (Alastair), Moore, G.E. (Gudrun E.), Murray, P.G. (Philip G.), Ogata, T. (Tsutomu), Petit, I.O. (Isabelle Oliver), Russo, S. (Sascha), Said, E. (Edith), Toumba, M. (Meropi), Tümer, Z., Binder, G. (Gerhard), Eggermann, T. (Thomas), Harbison, M.D. (Madeleine D.), Temple, I.K., Mackay, D.M. (Deborah), Netchine, I. (Irène)

المصدر: Nature Reviews Endocrinology vol. 13 no. 2, pp. 105-124

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/108227Test; urn:hdl:1765/108227

الإتاحة: https://doi.org/10.1038/nrendo.2016.138Test
http://repub.eur.nl/pub/108227Test

المؤلفون: Wakeling, E., Brioude, F., Lokulo-Sodipe, K., O'Connell, S.M., Salem, J., Bliek, J., Canton, A., Chrzanowska, K.H., Davies, J.H., Dias, R., Dubern, B., Elbracht, M., Giabicani, E., Grimberg, A., Groenskov, K., Hokken-Koelega, A., Jorge, A.A., Kagami, M., Linglart, A., Maghnie, M., Mohnike, K., Monk, D., Moore, G., Murray, P.G., Ogata, T., Oliver Petit, I., Russo, S., Said, E., Toumba, M., Tumer, Z., Binder, G., Eggermann, T., Harbison, M.D., Temple, I.K., Mackay, D.J.G., Netchine, I.

وصف الملف: text; slideshow

العلاقة: https://eprints.soton.ac.uk/399468/1/R%2520SRS%2520paper%252006.06.16%2520for%2520conversion.docxTest; https://eprints.soton.ac.uk/399468/2/R%2520Final%2520draft-%2520Figures%2520%252006.06.16.pptxTest; https://eprints.soton.ac.uk/399468/3/R%2520Final%2520draft-%2520Supp%2520table%25201%252006.06.16.docxTest; https://eprints.soton.ac.uk/399468/4/R%2520Final%2520draft-%2520Supp%2520Table%25202%252006.06.16.docxTest; https://eprints.soton.ac.uk/399468/5/R%2520Final%2520draft-%2520Supp%2520Table%25203%252006.06.16.docxTest; https://eprints.soton.ac.uk/399468/6/R%2520Final%2520draft-%2520Supp%2520Table%25204%252006.06.16.docxTest; https://eprints.soton.ac.uk/399468/7/R%2520Final%2520draft-%2520Supplementary%2520information-%2520summary%2520of%2520recommendations%252006.06.2016.docxTest; https://eprints.soton.ac.uk/399468/8/nrendo.2016.138.pdfTest; Wakeling, E., Brioude, F., Lokulo-Sodipe, K., O'Connell, S.M., Salem, J., Bliek, J., Canton, A., Chrzanowska, K.H., Davies, J.H., Dias, R., Dubern, B., Elbracht, M., Giabicani, E., Grimberg, A., Groenskov, K., Hokken-Koelega, A., Jorge, A.A., Kagami, M., Linglart, A., Maghnie, M., Mohnike, K., Monk, D., Moore, G., Murray, P.G., Ogata, T., Oliver Petit, I., Russo, S., Said, E., Toumba, M., Tumer, Z., Binder, G., Eggermann, T., Harbison, M.D., Temple, I.K., Mackay, D.J.G. and Netchine, I. (2017) Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nature Reviews Endocrinology, 13 (2), 105-124. (doi:10.1038/nrendo.2016.138 ).

الإتاحة: https://doi.org/10.1038/nrendo.2016.138Test
https://eprints.soton.ac.uk/399468Test/
https://eprints.soton.ac.uk/399468/1/R%2520SRS%2520paper%252006.06.16%2520for%2520conversion.docxTest
https://eprints.soton.ac.uk/399468/2/R%2520Final%2520draft-%2520Figures%2520%252006.06.16.pptxTest
https://eprints.soton.ac.uk/399468/3/R%2520Final%2520draft-%2520Supp%2520table%25201%252006.06.16.docxTest
https://eprints.soton.ac.uk/399468/4/R%2520Final%2520draft-%2520Supp%2520Table%25202%252006.06.16.docxTest
https://eprints.soton.ac.uk/399468/5/R%2520Final%2520draft-%2520Supp%2520Table%25203%252006.06.16.docxTest
https://eprints.soton.ac.uk/399468/6/R%2520Final%2520draft-%2520Supp%2520Table%25204%252006.06.16.docxTest
https://eprints.soton.ac.uk/399468/7/R%2520Final%2520draft-%2520Supplementary%2520information-%2520summary%2520of%2520recommendations%252006.06.2016.docxTest
https://eprints.soton.ac.uk/399468/8/nrendo.2016.138.pdfTest

المؤلفون: Pham, A., Selenou, C., Giabicani, E., Fontaine, V., Marteau, S., Brioude, F., David, L., Mitanchez, D., Sobrier, M. L., Netchine, I.

المصدر: Clinical Epigenetics; 12/28/2022, Vol. 14 Issue 1, p1-9, 9p

المؤلفون: Eggermann, K, Bliek, J, Brioude, F, Algar, E, Buiting, K, Russo, S, Tumer, Z, Monk, D, Moore, G, Antoniadi, T, Macdonald, F, Netchine, I, Lombardi, P, Soellner, L, Begemann, M, Prawitt, D, Maher, ER, Mannens, M, Riccio, A, Weksberg, R, Lapunzina, P, Gronskov, K, Mackay, DJG, Eggermann, T

العلاقة: pii: ejhg201645; Eggermann, K., Bliek, J., Brioude, F., Algar, E., Buiting, K., Russo, S., Tumer, Z., Monk, D., Moore, G., Antoniadi, T., Macdonald, F., Netchine, I., Lombardi, P., Soellner, L., Begemann, M., Prawitt, D., Maher, E. R., Mannens, M., Riccio, A. ,. Eggermann, T. (2016). EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS, 24 (10), pp.1377-1387. https://doi.org/10.1038/ejhg.2016.45Test.; http://hdl.handle.net/11343/304144Test

الإتاحة: https://doi.org/10.1038/ejhg.2016.45Test
http://hdl.handle.net/11343/304144Test

المؤلفون: Wakeling, EL, Brioude, F, Lokulo-Sodipe, O, O'Connell, SM, Salem, J, Bliek, J, Canton, APM, Chrzanowska, KH, Davies, JH, Dias, RP, Dubern, B, Elbracht, M, Giabicani, E, Grimberg, A, Gronskov, K, Hokken-Koelega, ACS, Jorge, AA, Kagami, M, Linglart, A, Maghnie, M, Mohnike, K, Monk, D, Moore, GE, Murray, PG, Ogata, T, Petit, IO, Russo, S, Said, E, Toumba, M, Tumer, Z, Binder, G, Eggermann, T, Harbison, MD, Temple, IK, Mackay, DJG, Netchine, I

المصدر: Nature Reviews Endocrinology , 13 (2) pp. 105-124. (2016)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Endocrinology & Metabolism, For-gestational-age, Children Born Small, Growth-hormone Treatment, Maternal Uniparental Disomy, Prader-willi-syndrome, 11p15-associated Imprinting Disorders, Methylation Analysis Reveals, Beckwith-wiedemann Syndromes, Randomized Controlled-trial, Clinical Scoring System

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1531436/1/Moore-G_Diagnosis%20and%20management%20Silver%20Russell%20syn_.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1531436Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1531436/1/Moore-G_Diagnosis%20and%20management%20Silver%20Russell%20syn_.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1531436Test/

المؤلفون: Brioude, F.

المصدر: Annales d'Endocrinologie ; volume 82, issue 5, page 230 ; ISSN 0003-4266

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ando.2021.07.037Test
https://api.elsevier.com/content/article/PII:S0003426621001153?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0003426621001153?httpAccept=text/plainTest

المؤلفون: Mackay DJG, Bliek J, Lombardi MP, Russo S, Calzari L, Guzzetti S, Izzi C, Selicorni A, Melis D, Temple K, Maher E, Brioude F, Netchine I, Eggermann T

المساهمون: Mackay, Djg, Bliek, J, Lombardi, Mp, Russo, S, Calzari, L, Guzzetti, S, Izzi, C, Selicorni, A, Melis, D, Temple, K, Maher, E, Brioude, F, Netchine, I, Eggermann, T

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000460168100001; journal:GENETICAL RESEARCH; https://hdl.handle.net/11379/582616Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85062416209

الإتاحة: https://doi.org/10.1017/S001667231900003XTest
https://hdl.handle.net/11379/582616Test

المؤلفون: Maher, E. R., Brioude, F., Bertoletti, M., Cocchi, G., Coze, C., De Pellegrin, M., Hussain, K., Ibrahim, A., Kilby, M. D., Krajewska-Walasek, M., Kratz, C. P., Ladusans, E. J., Kalish, J. M., Lapunzina, P., Le Bouc, Y., Maas, S., Macdonald, F., Ounap, K., Peruzzi, L., Rossignol, S., Russo, S., Shipster, C., Skorka, A., Mussa, A., Tatton-Brown, K., Tenorio, J., Tortora, C., Gronskov, K., Netchine, I., Hennekam, R. C., Prawitt, D., Tumer, Z., Eggermann, Thomas, Mackay, D. J. G., Foster, A., Riccio, A., Bliek, J., Ferrero, G. B., Boonen, S., Cole, T., Baker, R.

المصدر: European journal of human genetics 27(Supplement 1), P11.015C (2019). special issue: "Abstracts from the 51st European Society of Human Genetics Conference: Posters" ; 51. Conference of the European-Society-of-Human-Genetics, ESHG 2018, Milan, Italy, 2018-06-16 - 2018-06-19 European Meeting on Psychosocial Aspects of Geneticsm, EMPAG 2018, Milan, Italy, 2018-06-16 - 2018-06-19

مصطلحات موضوعية: info:eu-repo/classification/ddc/610

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000489313103043; info:eu-repo/semantics/altIdentifier/issn/1018-4813; info:eu-repo/semantics/altIdentifier/issn/1476-5438; https://publications.rwth-aachen.de/record/771018Test; https://publications.rwth-aachen.de/search?p=id:%22RWTH-2019-09890%22Test

الإتاحة: https://publications.rwth-aachen.de/record/771018Test
https://publications.rwth-aachen.de/search?p=id:%22RWTH-2019-09890%22Test