المؤلفون: Jordan, Pénélope, Verebi, Camille, Hervé, Bérénice, Perol, Sandrine, Chakhtoura, Zeina, Courtillot, Carine, Bachelot, Anne, Karila, Daphné, Renard, Céline, Grouthier, Virginie, de la Croix, Stanislas Mulot, Bernard, Valérie, Fouveaut, Corinne, de la Perrière, Aude Brac, Jonard‐Catteau, Sophie, Touraine, Philippe, Plu‐Bureau, Geneviève, Dupont, Jean Michel, Christin‐Maitre, Sophie, Bienvenu, Thierry

المصدر: Clinical Genetics ; volume 106, issue 1, page 102-108 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.14526Test

المؤلفون: Tschaidse, Lea, Reisch, Nicole, Arlt, Wiebke, de la Perriere, Aude Brac, Hirschberg, Angelica Linden, Juul, Anders, Mallappa, Ashwini, Merke, Deborah P., Newell-Price, John D.C., Perry, Colin G., Prete, Alessandro, Rees, D. Aled, Stikkelbroeck, Nike M.M.L., Touraine, Philippe A., Coope, Helen, Porter, John, Ross, Richard John M., Quinkler, Marcus

المصدر: Tschaidse , L , Reisch , N , Arlt , W , de la Perriere , A B , Hirschberg , A L , Juul , A , Mallappa , A , Merke , D P , Newell-Price , J D C , Perry , C G , Prete , A , Rees , D A , Stikkelbroeck , N M M L , Touraine , P A , Coope , H , Porter , J , Ross , R J M & Quinkler , M 2023 , ' Modified-release hydrocortisone is associated with lower plasma renin activity in ....

مصطلحات موضوعية: 21-hydroxylase deficiency, adrenal insufficiency, aldosterone, dexamethasone, fludrocortisone, hydrocortisone, plasma renin activity, prednisolone

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1093/ejendo/lvac006Test
https://curis.ku.dk/portal/da/publications/modifiedrelease-hydrocortisone-is-associated-with-lower-plasma-renin-activity-in-patients-with-saltwasting-congenital-adrenal-hyperplasiaTest(544086a1-bac8-4fdc-934e-31465863502b).html
https://curis.ku.dk/ws/files/367087787/lvac006.pdfTest

المؤلفون: John, M. Ross Richard, Merke, Deborah P., Arlt, Wiebke, De, La Perriere Aude Brac, Hirschberg, Angelica, Newell-Price, John D.C., Prete, Alessandro, Rees, Aled, Reisch, Nicole, Quinkler, Marcus, Touraine, Philippe A., Maltby, Kerry, Quirke, Jo, Aslam, Naila, Coope, Helen, Porter, John

المصدر: Endocrine Abstracts ; ISSN 1479-6848

الإتاحة: https://doi.org/10.1530/endoabs.99.rc3.1Test
http://www.endocrine-abstracts.org/ea/0099/ea0099RC3.1Test

المؤلفون: Beneteau, Claire, Findikli, Necati, Billaud-Rist, Line, de la Perriere, Aude Brac, Da Costa, Sabrina, Ogur, Cagri, Heddar, Abdelkader, Braham, Ines, Fernandez, Herve, Raffin-Sanson, Marie-Laure, Polak, Michel, Letur, Helene, Brischoux-Boucher, Elise, Paris, Francoise, Auger, Nathalie, Fauconnier, Anais, Zampa, Amandine, Ginglinger, Emmanuelle, Guerrot, Anne-Marie, Luigi, Perrine, Le Boette, Elsa, Fradin, Melanie, Rougier-LeMasle, Charlotte, Khrouf, Mohamed, Elloumi, Hanen, Nicolas-Bonne, Carole, Cavkaytar, Sabri, Droumaguet, Celine, Perol, Sandrine, Dagher-Hayeck, Benedicte, Bretault, Marion, Peigne, Maeliss, Cantalloube, Adele, Cedrin-Durnerin, Isabelle, Marchand, Maud, Legrand, Stephanie, Mahmoud, Khaled, Reynaud, Rachel, Riviere, Axelle, Piard, Juliette, Aittomaki, Kristiina, Catteau-Jonard, Sophie, Isidor, Bertrand, Gruchy, Nicolas, Odent, Sylvie, Gilbert-Dussardier, Brigitte, Berard, Melanie, Guyon, Laura, Brun, Aurore, Cabrol, Christelle, Misrahi, Micheline, Hieronimus, Sylvie, Wolczynski, Slawomir, Plu-Bureau, Genevieve, Epelboin, Sylvie, Lambert, Laetitia, Hamamah, Samir, Guedj, Anne Marie

العلاقة: d1a969e4-7f87-41d2-b23f-7096251dd470; https://avesis.yildiz.edu.tr/publication/details/d1a969e4-7f87-41d2-b23f-7096251dd470/oaiTest

الإتاحة: https://doi.org/10.1016/j.ebiom.2022.104246Test
https://avesis.yildiz.edu.tr/publication/details/d1a969e4-7f87-41d2-b23f-7096251dd470/oaiTest

المؤلفون: Heddar, Abdelkader, Ogur, Cagri, Da Costa, Sabrina, Braham, Ines, Billaud-Rist, Line, Findikli, Necati, Beneteau, Claire, Reynaud, Rachel, Mahmoud, Khaled, Legrand, Stephanie, Marchand, Maud, Cedrin-Durnerin, Isabelle, Cantalloube, Adele, Peigne, Maeliss, Bretault, Marion, Dagher-Hayeck, Benedicte, Perol, Sandrine, Droumaguet, Celine, Cavkaytar, Sabri, Nicolas-Bonne, Carole, Elloumi, Hanen, Khrouf, Mohamed, Rougier-LeMasle, Charlotte, Fradin, Melanie, Le Boette, Elsa, Luigi, Perrine, Guerrot, Anne-Marie, Ginglinger, Emmanuelle, Zampa, Amandine, Fauconnier, Anais, Auger, Nathalie, Paris, Francoise, Brischoux-Boucher, Elise, Cabrol, Christelle, Brun, Aurore, Guyon, Laura, Berard, Melanie, Riviere, Axelle, Gruchy, Nicolas, Odent, Sylvie, Gilbert-Dussardier, Brigitte, Isidor, Bertrand, Piard, Juliette, Lambert, Laetitia, Hamamah, Samir, Guedj, Anne Marie, de la Perriere, Aude Brac, Fernandez, Herve, Raffin-Sanson, Marie-Laure, Polak, Michel, Letur, Helene, Epelboin, Sylvie, Plu-Bureau, Genevieve, Wolczynski, Slawomir, Hieronimus, Sylvie, Aittomäki, Kristiina, Catteau-Jonard, Sophie, Misrahi, Micheline

المساهمون: Medicum, Research Programs Unit, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki

مصطلحات موضوعية: DNA repair genes, Meiosis, Mitophagy, Nf-kb, Personalized medicine, Post-translational regulation, Primary ovarian insufficiency, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: Heddar , A , Ogur , C , Da Costa , S , Braham , I , Billaud-Rist , L , Findikli , N , Beneteau , C , Reynaud , R , Mahmoud , K , Legrand , S , Marchand , M , Cedrin-Durnerin , I , Cantalloube , A , Peigne , M , Bretault , M , Dagher-Hayeck , B , Perol , S , Droumaguet , C , Cavkaytar , S , Nicolas-Bonne , C , Elloumi , H , Khrouf , M , Rougier-LeMasle , C , Fradin , M , Le Boette , E , Luigi , P , Guerrot , A-M , Ginglinger , E , Zampa , A , Fauconnier , A , Auger , N , Paris , F , Brischoux-Boucher , E , Cabrol , C , Brun , A , Guyon , L , Berard , M , Riviere , A , Gruchy , N , Odent , S , Gilbert-Dussardier , B , Isidor , B , Piard , J , Lambert , L , Hamamah , S , Guedj , A M , de la Perriere , A B , Fernandez , H , Raffin-Sanson , M-L , Polak , M , Letur , H , Epelboin , S , Plu-Bureau , G , Wolczynski , S , Hieronimus , S , Aittomäki , K , Catteau-Jonard , S & Misrahi , M 2022 , ' Genetic landscape of a large cohort of Primary Ovarian Insufficiency : New genes and pathways and implications for personalized medicine ' , EBioMedicine , vol. 84 , 104246 . https://doi.org/10.1016/j.ebiom.2022.104246Test; 3257c643-c068-40cb-8416-3fb32f01e241; http://hdl.handle.net/10138/351522Test; 000877614200002

الإتاحة: http://hdl.handle.net/10138/351522Test

المؤلفون: Nowotny, Hanna, Neumann, Uta, Tardy-Guidollet, Veronique, Faisal Ahmed, Ahmed, Baronio, Federico, Battelino, Tadej, Bertherat, Jerome, Blankenstein, Oliver, Bonomi, Marco, Bouvattier, Claire, De la Perrière, Aude Brac, Brucker, Sara, Cappa, Marco, Chanson, Philippe, Van der Grinten, Hedi L. Claahsen, Colao, Annamaria, Cools, Martine, Davies, Justin H., Dorr, Helmut-Gunther, Fenske, Wiebke K., Ghigo, Ezio, Giordano, Roberta, Gravholt, Claus H., Huebner, Angela, Husebye, Eystein Sverre, Igbokwe, Rebecca, Juul, Anders, Kiefer, Florian W., Leger, Juliane, Menassa, Rita, Meyer, Gesine, Neocleous, Vassos, Phylactou, Leonidas A., Rohayem, Julia, Russo, Gianni, Scaroni, Carla, Touraine, Philippe, Unger, Nicole, Vojtkova, Jarmila, Yeste, Diego, Lajic, Svetlana, Reisch, Nicole

المصدر: European Journal of Endocrinology (EJE) ; K17-K24 ; 168 ; 5

وصف الملف: application/pdf

العلاقة: urn:issn:0804-4643; https://hdl.handle.net/11250/3024123Test; https://doi.org/10.1530/EJE-21-0554Test; cristin:2024710; European Journal of Endocrinology (EJE). 2022, 168 (5), K17-K24.

الإتاحة: https://doi.org/10.1530/EJE-21-0554Test
https://hdl.handle.net/11250/3024123Test

المؤلفون: Nowotny, Hanna F., Neumann, Uta, Tardy-Guidollet, Veronique, Ahmed, S. Faisal, Baronio, Federico, Battelino, Tadej, Bertherat, Jerome, Blankenstein, Oliver, Bonomi, Marco, Bouvattier, Claire, de la Perriere, Aude Brac, Brucker, Sara, Cappa, Marco, Chanson, Philippe, Claahsen-van der Grinten, Hedi L., Colao, Annamaria, Cools, Martine, Davies, Justin H., Dorr, Helmut Gunther, Fenske, Wiebke K., Ghigo, Ezio, Gravholt, Claus H., Huebner, Angela, Husebye, Eystein Sverre, Igbokwe, Rebecca, Juul, Anders, Kiefer, Florian W., Leger, Juliane, Menassa, Rita, Meyer, Gesine, Neocleous, Vassos, Phylactou, Leonidas A., Rohayem, Julia, Russo, Gianni, Scaroni, Carla, Touraine, Philippe, Unger, Nicole, Vojtkova, Jarmila, Yeste, Diego, Lajic, Svetlana, Reisch, Nicole

المصدر: Nowotny , H F , Neumann , U , Tardy-Guidollet , V , Ahmed , S F , Baronio , F , Battelino , T , Bertherat , J , Blankenstein , O , Bonomi , M , Bouvattier , C , de la Perriere , A B , Brucker , S , Cappa , M , Chanson , P , Claahsen-van der Grinten , H L , Colao , A , Cools , M , Davies , J H , Dorr , H G , Fenske , W K , Ghigo , E , Gravholt , C H ....

الإتاحة: https://doi.org/10.1159/000518849Test
https://curis.ku.dk/portal/da/publications/current-clinical-practice-of-prenatal-dexamethasone-treatment-in-at-risk-pregnancies-for-classic-21hydroxylase-deficiency-in-europeTest(cb4cf9d5-a54a-402b-ae68-ab782dad0222).html

المؤلفون: Jordan, Pénélope, Verebi, Camille, Perol, Sandrine, Grotto, Sarah, Fouveaut, Corinne, Christin-Maitre, Sophie, de la Perrière, Aude Brac, Grouthier, Virginie, Jonard-Catteau, Sophie, Touraine, Philippe, PLU-Bureau, Geneviève, Dupont, Jean Michel, El Khattabi, Laila, Bienvenu, Thierry

المصدر: Journal of Assisted Reproduction & Genetics; Jan2024, Vol. 41 Issue 1, p135-146, 12p

مصطلحات موضوعية: PREMATURE ovarian failure, GENETIC variation, NUCLEOTIDE sequencing, MISSENSE mutation

المؤلفون: P Merke, Deborah, Mallappa, Ashwini, Arlt, Wiebke, de La Perriere, Aude Brac, Hirschberg, Angelica Lindén, Juul, Anders, Newell-Price, John D. C., G Perry, Colin, Prete, Alessandro, Rees, Aled, Reisch, Nicole, Stikkelbroeck, Nike, Tourraine, Phillippe, Maltby, Kerry, Treasure, F Peter, Porter, John, Ross, Richard J

المساهمون: National Institutes of Health Bethesda, MD, USA (NIH), Queens Elizabeth Hospital Birmingham, University of Birmingham Birmingham, Hospices Civils de Lyon (HCL), Karolinska University Hospital Stockholm, Rigshospitalet Copenhagen, Copenhagen University Hospital, University of Sheffield Sheffield, Queen Elizabeth University Hospital (Glasgow), Cardiff University, University-Hospital Munich-Großhadern München, Radboud University Medical Center Nijmegen, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Diurnal Ltd, University of Cambridge UK (CAM)

المصدر: ISSN: 0021-972X.

مصطلحات موضوعية: 21-hydroxylase deficiency, glucocorticoid, hydrocortisone, adrenal insufficiency, Congenital adrenal hyperplasia, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism

العلاقة: hal-03130310; https://hal.sorbonne-universite.fr/hal-03130310Test; https://hal.sorbonne-universite.fr/hal-03130310/documentTest; https://hal.sorbonne-universite.fr/hal-03130310/file/dgab051.pdfTest

الإتاحة: https://doi.org/10.1210/clinem/dgab051/6123708Test
https://hal.sorbonne-universite.fr/hal-03130310Test
https://hal.sorbonne-universite.fr/hal-03130310/documentTest
https://hal.sorbonne-universite.fr/hal-03130310/file/dgab051.pdfTest

المؤلفون: Jordan, Pénélope, Verebi, Camille, Perol, Sandrine, Grotto, Sarah, Fouveaut, Corinne, Christin-Maitre, Sophie, de la Perrière, Aude Brac, Grouthier, Virginie, Jonard-Catteau, Sophie, Touraine, Philippe, PLU-Bureau, Geneviève, Dupont, Jean Michel, El Khattabi, Laila, Bienvenu, Thierry

المصدر: Journal of Assisted Reproduction and Genetics ; volume 41, issue 1, page 135-146 ; ISSN 1058-0468 1573-7330

مصطلحات موضوعية: Genetics (clinical), Developmental Biology, Obstetrics and Gynecology, Genetics, Reproductive Medicine, General Medicine

الإتاحة: https://doi.org/10.1007/s10815-023-02981-yTest