يعرض 1 - 10 نتائج من 88 نتيجة بحث عن '"Alexandru Saveanu"', وقت الاستعلام: 1.86s تنقيح النتائج
  1. 1
    دورية أكاديمية
    A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin

    المؤلفون: Théo Charnay, Gregory Mougel, Cyril Amouroux, Iva Gueorguieva, Florence Joubert, Morgane Pertuit, Rachel Reynaud, Anne Barlier, Thierry Brue, Alexandru Saveanu

    المصدر: Frontiers in Endocrinology, Vol 13 (2023)

    مصطلحات موضوعية: isolated ACTH deficiency, low ACTH and cortisol, adrenal insufficiency, TBX19, TPIT, recessive disorder, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

    وصف الملف: electronic resource

    العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2022.1080649/fullTest; https://doaj.org/toc/1664-2392Test

    الوصول الحر: https://doaj.org/article/405bf89880e44097afccf954195d820fTest

    View record in DOAJ النص الكامل

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  2. 2
    دورية أكاديمية
    Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue.

    المؤلفون: Claire Rochette, Nicolas Jullien, Alexandru Saveanu, Emmanuelle Caldagues, Ignacio Bergada, Debora Braslavsky, Marija Pfeifer, Rachel Reynaud, Jean-Paul Herman, Anne Barlier, Thierry Brue, Alain Enjalbert, Frederic Castinetti

    المصدر: PLoS ONE, Vol 10, Iss 5, p e0126648 (2015)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    العلاقة: http://europepmc.org/articles/PMC4425544?pdf=renderTest; https://doaj.org/toc/1932-6203Test

    الوصول الحر: https://doaj.org/article/cc9aa415b3a5416ca27db31833e7f380Test

    View record in DOAJ النص الكامل

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  3. 3
    IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency

    المؤلفون: Rachel Fourneaux, Rachel Reynaud, Gregory Mougel, Sarah Castets, Patricia Bretones, Benjamin Dauriat, Thomas Edouard, Gerald Raverot, Anne Barlier, Thierry Brue, Frederic Castinetti, Alexandru Saveanu

    المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Marseille Maladies Rares (MarMaRa), Aix Marseille Université (AMU), Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM], Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM], Hôpital de la Conception [CHU - APHM] (LA CONCEPTION)

    المصدر: European Journal of Endocrinology
    European Journal of Endocrinology, 2022, 187 (6), pp.787-795. ⟨10.1530/EJE-22-0520⟩

    مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics, Pituitary Diseases, Endocrinology, Diabetes and Metabolism, Thyrotropin, Immunoglobulins, Membrane Proteins, General Medicine, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], Endocrinology, Hypothyroidism, Mutation, Exome Sequencing, Humans, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c59f937d44354effc5953c9aad51c34aTest
    https://doi.org/10.1530/eje-22-0520Test


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  4. 4
    Anterior pituitary hormone deficiency in DAVID syndrome

    المؤلفون: Thi Thom Mac, Frederic Castinetti, Céline Bar, Sophie Julia, Marlene Pasquet, Pauline Romanet, Alexandru Saveanu, Gregory Mougel, Teddy Fauquier, Nicolas Jullien, Anne Barlier, Rachel Reynaud, Thierry Brue

    المصدر: Journal of Neuroendocrinology.

    مصطلحات موضوعية: Cellular and Molecular Neuroscience, Endocrinology, Endocrine and Autonomic Systems, Endocrinology, Diabetes and Metabolism

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d310234ef6d600a3ec6bb7558ea84553Test
    https://doi.org/10.1111/jne.13287Test


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  5. 5
    Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man

    المؤلفون: Hironori Bando, Michelle L Brinkmeier, Frederic Castinetti, Qing Fang, Mi-Sun Lee, Alexandru Saveanu, Frédérique Albarel, Clémentine Dupuis, Thierry Brue, Sally A Camper

    المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Marseille Maladies Rares (MarMaRa), Aix Marseille Université (AMU), Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM], Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM], Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), R01HD097096 (to S.A.C.), Japan Society for the Promotion of Science Overseas Research Fellowship (to H.B.).

    المصدر: Human Molecular Genetics
    Human Molecular Genetics, 2023, 32 (3), pp.367-385. ⟨10.1093/hmg/ddac192⟩

    مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV]Life Sciences [q-bio], Genetics, General Medicine, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Molecular Biology, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Genetics (clinical)

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb5627acbe8fd02ec2b9653d87951d38Test
    https://doi.org/10.1093/hmg/ddac192Test


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  6. 6
    Supplementary Figure 2 from Somatostatin Receptor sst2 Decreases Cell Viability and Hormonal Hypersecretion and Reverses Octreotide Resistance of Human Pituitary Adenomas

    المؤلفون: Anne Barlier, Alain Enjalbert, Thierry Brue, Henry Dufour, Dominique Figarella-Branger, Richard Cohen, Bettina Couderc, Anne Laure Germanetti, Ginette Gunz, Alexandru Saveanu, Catherine Roche, Sylvie Thirion, Julie Acunzo

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b84e33feabb334eb5309cfc62c43aaaTest
    https://doi.org/10.1158/0008-5472.22376748.v1Test


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  7. 7
    Supplementary Figure Legends 1-2 from Somatostatin Receptor sst2 Decreases Cell Viability and Hormonal Hypersecretion and Reverses Octreotide Resistance of Human Pituitary Adenomas

    المؤلفون: Anne Barlier, Alain Enjalbert, Thierry Brue, Henry Dufour, Dominique Figarella-Branger, Richard Cohen, Bettina Couderc, Anne Laure Germanetti, Ginette Gunz, Alexandru Saveanu, Catherine Roche, Sylvie Thirion, Julie Acunzo

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::365de26a2d9c588199814adc62d2c593Test
    https://doi.org/10.1158/0008-5472.22376745Test


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  8. 8
    Supplementary Figure 1 from Somatostatin Receptor sst2 Decreases Cell Viability and Hormonal Hypersecretion and Reverses Octreotide Resistance of Human Pituitary Adenomas

    المؤلفون: Anne Barlier, Alain Enjalbert, Thierry Brue, Henry Dufour, Dominique Figarella-Branger, Richard Cohen, Bettina Couderc, Anne Laure Germanetti, Ginette Gunz, Alexandru Saveanu, Catherine Roche, Sylvie Thirion, Julie Acunzo

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71365637198ee3726c9c68790e9c55feTest
    https://doi.org/10.1158/0008-5472.22376751.v1Test


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  9. 9
    Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use

    المؤلفون: Lauriane Le Collen, Brigitte Delemer, Christine Poitou, Martine Vaxillaire, Bénédicte Toussaint, Aurélie Dechaume, Alaa Badreddine, Mathilde Boissel, Mehdi Derhourhi, Karine Clément, Jean M. Petit, Frédéric Tran Mau-Them, Ange-Line Bruel, Christel Thauvin-Robinet, Alexandru Saveanu, Blandine Gatta Cherifi, Johanne Le Beyec-Le Bihan, Philippe Froguel, Amélie Bonnefond

    المصدر: Genetics in Medicine. 25:100857

    مصطلحات موضوعية: Genetics (clinical)

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0a68674ab4f5425855a393658af29298Test
    https://doi.org/10.1016/j.gim.2023.100857Test


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  10. 10
    Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family

    المؤلفون: Rachel Fourneaux, Sarah Castets, Alice Godefroy, Maude Grelet, Juliette Abeillon-du Payrat, Alexandru Saveanu, Frederic Castinetti, Rachel Reynaud

    المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM], Aix Marseille Université (AMU), Institut Marseille Maladies Rares (MarMaRa), Centre de référence des maladies rares de l'hypophyse (HYPO), Service d'Endocrinologie, Diabète et Maladies Métaboliques, Service de pédiatrie multidisciplinaire [Hôpital de la Timone Enfants - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Hôpital Saint-Joseph [Marseille], Centre Hospitalier Intercommunal Toulon-La Seyne sur Mer - Hôpital Sainte-Musse, Groupement Hospitalier Lyon-Est (GHE), Hospices Civils de Lyon (HCL), Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM], Hôpital de la Conception [CHU - APHM] (LA CONCEPTION)

    المصدر: Hormone Research in Paediatrics
    Hormone Research in Paediatrics, 2022, 95 (3), pp.296-303. ⟨10.1159/000524233⟩

    مصطلحات موضوعية: Immunoglobulin superfamily member 1, endocrine system, [SDV.GEN]Life Sciences [q-bio]/Genetics, Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Congenital central hypothyroidism, Neurodevelopment, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Neonatal central hypothyroidism

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::902b9777b6a137323c37ccdc20e5addbTest
    https://hal-amu.archives-ouvertes.fr/hal-04034050Test


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