يعرض 1 - 10 نتائج من 129 نتيجة بحث عن '"Sobrier, Marie-Laure"', وقت الاستعلام: 1.29s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Low Maternal DLK1 Levels at 26 Weeks Is Associated With Small for Gestational Age at Birth

    المؤلفون: Pham, Aurelie, Mitanchez, Delphine, Forhan, Anne, Perin, Laurence, Le Bouc, Yves, Brioude, Frederic, Sobrier, Marie-Laure, Heude, Barbara, 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), Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre for Research in Epidemiology and Statistics, Conservatoire National des Arts et Métiers CNAM (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Sorbonne Université (SU)

    المصدر: ISSN: 1664-2392 ; Frontiers in Endocrinology ; https://hal.science/hal-04026820Test ; Frontiers in Endocrinology, 2022, 13, pp.836731. ⟨10.3389/fendo.2022.836731⟩.

    مصطلحات موضوعية: DLK1, small for gestational age (SGA), fetal growth restriction, placental vascular dysfunction, biomarker, [SDV]Life Sciences [q-bio]

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35295988; hal-04026820; https://hal.science/hal-04026820Test; https://hal.science/hal-04026820/documentTest; https://hal.science/hal-04026820/file/Pham%202022%20Front%20Endocrinol.pdfTest; PUBMED: 35295988; PUBMEDCENTRAL: PMC8919710; WOS: 000773000900001

    الإتاحة: https://doi.org/10.3389/fendo.2022.836731Test
    https://hal.science/hal-04026820Test
    https://hal.science/hal-04026820/documentTest
    https://hal.science/hal-04026820/file/Pham%202022%20Front%20Endocrinol.pdfTest

    View record in BASE

    أضف إلى المفضلة
  2. 2
    دورية أكاديمية
    IGF2: Development, Genetic and Epigenetic Abnormalities

    المؤلفون: Sélénou, Céline, Brioude, Frédéric, Giabicani, Eloïse, Sobrier, Marie-Laure, 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), ANR-18-CE12-0022,IMP-REGULOME,Control à différents niveaux de l'empreinte du domaine DLK1-DIO3 dans le developpement et des maladies.(2018)

    المصدر: ISSN: 2073-4409 ; Cells ; https://hal.sorbonne-universite.fr/hal-03711849Test ; Cells, 2022, 11 (12), pp.1886. ⟨10.3390/cells11121886⟩.

    مصطلحات موضوعية: IGF2, growth, Silver-Russell syndrome, Beckwith-Wiedemann syndrome, parental imprinting, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology

    العلاقة: hal-03711849; https://hal.sorbonne-universite.fr/hal-03711849Test; https://hal.sorbonne-universite.fr/hal-03711849/documentTest; https://hal.sorbonne-universite.fr/hal-03711849/file/Selenou%20et%20al%202022%20Cells%20IGF2%20review.pdfTest

    الإتاحة: https://doi.org/10.3390/cells11121886Test
    https://hal.sorbonne-universite.fr/hal-03711849Test
    https://hal.sorbonne-universite.fr/hal-03711849/documentTest
    https://hal.sorbonne-universite.fr/hal-03711849/file/Selenou%20et%20al%202022%20Cells%20IGF2%20review.pdfTest

    View record in BASE

    أضف إلى المفضلة
  3. 3
    دورية أكاديمية
    Dental pulp stem cells as a promising model to study imprinting diseases

    المؤلفون: Giabicani, Eloïse, Pham, Aurélie, Sélénou, Céline, Sobrier, Marie-Laure, Andrique, Caroline, Lesieur, Julie, Linglart, Agnès, Poliard, Anne, Chaussain, Catherine, Netchine, Irène

    المساهمون: Agence Nationale de la Recherche

    المصدر: International Journal of Oral Science ; volume 14, issue 1 ; ISSN 1674-2818 2049-3169

    مصطلحات موضوعية: General Dentistry

    الإتاحة: https://doi.org/10.1038/s41368-022-00169-1Test
    https://www.nature.com/articles/s41368-022-00169-1.pdfTest
    https://www.nature.com/articles/s41368-022-00169-1Test

    View record in BASE

    أضف إلى المفضلة
  4. 4
    دورية أكاديمية
    Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants ; DLK1 variants are not involved in Silver Russell syndrome

    المؤلفون: Pham, Aurélie, Sobrier, Marie-Laure, Giabicani, Eloïse, Le Jules Fernandes, Marilyne, Mitanchez, Delphine, Brioude, Fréderic, 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), ANR-18-CE12-0022,IMP-REGULOME,Control à différents niveaux de l'empreinte du domaine DLK1-DIO3 dans le developpement et des maladies.(2018)

    المصدر: ISSN: 1018-4813.

    مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

    العلاقة: hal-04026789; https://hal.science/hal-04026789Test; https://hal.science/hal-04026789/documentTest; https://hal.science/hal-04026789/file/DLK1_EJHG-accept.pdfTest

    الإتاحة: https://doi.org/10.1038/s41431-021-00927-5Test
    https://hal.science/hal-04026789Test
    https://hal.science/hal-04026789/documentTest
    https://hal.science/hal-04026789/file/DLK1_EJHG-accept.pdfTest

    View record in BASE

    أضف إلى المفضلة
  5. 5
    دورية أكاديمية
    Alternatively Spliced Forms in the Cytoplasmic Domain of the Human Growth Hormone (GH) Receptor Regulate Its Ability to Generate a Soluble GH-Binding Protein

    المؤلفون: Dastot, Florence, Sobrier, Marie-Laure, Duquesnoy, Philippe, Duriez, Bénédicte, Goossens, Michel, Amselem, Serge

    المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1996 Oct 01. 93(20), 10723-10728.

    الوصول الحر: https://www.jstor.org/stable/40221Test

    النص الكامل

    أضف إلى المفضلة
  6. 6
    دورية أكاديمية
    Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations

    المؤلفون: Cohen, Enzo, Belkacem, Sabrina, Fedala, Soumeya, Collot, Nathalie, Khallouf, Eliane, Dastot, Florence, Polak, Michel, Duquesnoy, Philippe, Brioude, Frédéric, Rose, Sophie, Viot, Géraldine, Soleyan, Aude, Carel, Jean-Claude, Sobrier, Marie-Laure, Chanson, Philippe, Gatelais, Frédérique, Heinrichs, Claudine, Kaffel, Noureddine, Coutant, Regis, Savaş Erdeve, Şenay, Kurnaz, Erdal, Aycan, Zehra, Thalassinos, Caroline, Lyonnet, Stanislas, Şıklar, Zeynep, Berberoglu, Merih, Brachet, Cécile, Amselem, Serge, Legendre, Marie

    المصدر: Human mutation

    مصطلحات موضوعية: Biologie, Génétique clinique, functional studies, genotype-phenotype correlation, GHRHR, IGHD, molecular epidemiology

    وصف الملف: 2 full-text file(s): application/pdf | application/pdf

    العلاقة: uri/info:doi/10.1002/humu.23847; uri/info:pmid/31231873; uri/info:scp/85070510402; https://dipot.ulb.ac.be/dspace/bitstream/2013/292475/4/16518024GHRHR.pdfTest; https://dipot.ulb.ac.be/dspace/bitstream/2013/292475/3/16518024GHRHR.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/292475Test

    الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/292475Test
    https://dipot.ulb.ac.be/dspace/bitstream/2013/292475/4/16518024GHRHR.pdfTest
    https://dipot.ulb.ac.be/dspace/bitstream/2013/292475/3/16518024GHRHR.pdfTest

    View record in BASE

    أضف إلى المفضلة
  7. 7
    دورية أكاديمية
    Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders

    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

    View record in BASE

    أضف إلى المفضلة
  8. 8
    دورية أكاديمية
    Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders

    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

    View record in BASE

    أضف إلى المفضلة
  9. 9
    دورية أكاديمية
    Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes

    المؤلفون: Blum, Werner, Klammt, Jürgen, Amselem, Serge, Pfäffle, Heike, Legendre, Marie, Sobrier, Marie-Laure, Luton, Marie-Pierre, Child, Christopher, Jones, Christine, Zimmermann, Alan, Quigley, Charmian, Cutler, Gordon, Deal, Cheri, Lebl, Jan, Rosenfeld, Ron, Parks, John, Pfäffle, Roland

    المساهمون: Leipzig University / Universität Leipzig, Justus-Liebig-Universität Gießen = Justus Liebig University (JLU), 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), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Eli Lilly and Company Limited Windlesham, Eli Lilly and Company Bad Homburg (ELC), Eli Lilly and Company Indianapolis, Sydney Children's hospital, Gordon Cutler Consultancy LLC Deltaville, VA, USA (G2C), Université du Québec à Montréal = University of Québec in Montréal (UQAM), University Hospital Motol Prague, Univerzita Karlova Praha, Česká republika = Charles University Prague, Czech Republic (UK), Oregon Health and Science University Portland (OHSU), Emory University School of Medicine, Emory University Atlanta, GA

    المصدر: ISSN: 2352-3964 ; EBioMedicine ; https://inserm.hal.science/inserm-03780612Test ; EBioMedicine, 2018, 36, pp.390-400. ⟨10.1016/j.ebiom.2018.09.026⟩.

    مصطلحات موضوعية: Genetics, Growth hormone deficiency, Hypopituitarism, Pituitary, Short stature, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30266296; inserm-03780612; https://inserm.hal.science/inserm-03780612Test; https://inserm.hal.science/inserm-03780612/documentTest; https://inserm.hal.science/inserm-03780612/file/PIIS2352396418303840.pdfTest; PUBMED: 30266296; PUBMEDCENTRAL: PMC6197701; WOS: 000447685300043

    الإتاحة: https://doi.org/10.1016/j.ebiom.2018.09.026Test
    https://inserm.hal.science/inserm-03780612Test
    https://inserm.hal.science/inserm-03780612/documentTest
    https://inserm.hal.science/inserm-03780612/file/PIIS2352396418303840.pdfTest

    View record in BASE

    أضف إلى المفضلة
  10. 10
    دورية أكاديمية
    Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD

    المؤلفون: Sobrier, Marie-Laure, Tsai, Yu-Cheng, Pérez, Christelle, Leheup, Bruno, Bouceba, Tahar, Duquesnoy, Philippe, Copin, Bruno, Sizova, Daria, Penzo, Alfredo, Stanger, Ben Z., Cooke, Nancy E., Liebhaber, Stephen A., Amselem, Serge

    المساهمون: Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Dpt of Genetics Philadelphia, University of Pennsylvania, Service de Génétique Clinique Pédiatrique CHRU Nancy, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Ingénierie des protéines, PCR, Interaction Moléculaires IBPS (IBPS-IPIM), Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Gastroenterology Division Philadelphia

    المصدر: ISSN: 0964-6906.

    مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26612202; hal-01304122; https://hal.sorbonne-universite.fr/hal-01304122Test; https://hal.sorbonne-universite.fr/hal-01304122/documentTest; https://hal.sorbonne-universite.fr/hal-01304122/file/Sobrier_2016_Functional.pdfTest; PUBMED: 26612202; PUBMEDCENTRAL: PMC5007599; WOS: 000372149500005

    الإتاحة: https://doi.org/10.1093/hmg/ddv486Test
    https://hal.sorbonne-universite.fr/hal-01304122Test
    https://hal.sorbonne-universite.fr/hal-01304122/documentTest
    https://hal.sorbonne-universite.fr/hal-01304122/file/Sobrier_2016_Functional.pdfTest

    View record in BASE

    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS — أرسل هذا البحث بالبريد الإلكتروني — حفظ البحث