المؤلفون: Wei Jiang, Jing Yu, Yu Mao, Yunman Tang, Li Cao, Qin Du, Jianan Li, Jiyun Yang

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 5, Pp n/a-n/a (2024)

مصطلحات موضوعية: 46,XY DSD, DHX37, disorders of sex development, WES, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/5b3f5c533394420caf6714d08bb8597dTest

المؤلفون: Tack, L. J. W., Brachet, C., Beauloye, V, Heinrichs, C., Boros, E., De Waele, K., van der Straaten , S., Van Aken, S., Craen, M., Lemay, A., Rochtus, A., Casteels, K., Beckers, D., Mouraux, T., Logghe, K., Van Loocke, M., MASSA, Guy, van de Vijver, K., Syryn, H., Van De Velde, J., De Baere, E., Verdin, H., Cools , M.

المساهمون: Tack, L. J. W., Brachet, C., Beauloye, V, Heinrichs, C., Boros, E., De Waele, K., van der Straaten , S., Van Aken, S., Craen, M., Lemay, A., Rochtus, A., Casteels, K., Beckers, D., Mouraux, T., Logghe, K., Van Loocke, M., MASSA, Guy, van de Vijver, K., Syryn, H., Van De Velde, J., De Baere, E., Verdin, H., Cools , M.

مصطلحات موضوعية: testicular regression, vanished testes, differences of sex development (DSD), hormone replacement therapy, long-term outcome, DHX37

وصف الملف: application/pdf

العلاقة: Human Reproduction Open, 2023 (4) (Art N° hoad047); http://hdl.handle.net/1942/42192Test; 2023; 001128101100001

الإتاحة: https://doi.org/10.1093/hropen/hoad047Test
http://hdl.handle.net/1942/42192Test

المؤلفون: Nanbin Liu, Hailong Zhang, Chunli Zhang, Zeyu Li, Limin Huang, Jin Sun, Junan Qi, Xi Deng, Na Huang, Yanhua Mu, Zongfang Li, Hongwei Tian

المصدر: Cancers, Vol 15, Iss 21, p 5228 (2023)

مصطلحات موضوعية: liver hepatocellular carcinoma, DHX37, prognosis, chemotherapy, immunotherapy, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6694/15/21/5228Test; https://doaj.org/toc/2072-6694Test

الوصول الحر: https://doaj.org/article/64c46e7448b84f719d083118da4eaf95Test

المؤلفون: Tack, L.J.W., Brachet, Cécile, Beauloye, Véronique, Heinrichs, Claudine, Boros, EMESE, De Waele, Kathleen, Van Der Straaten, Saskia, Van Aken, Sara, Craen, Margarita, Lemay, A., Rochtus, Anne, casteels, Kristina, Beckers, Dominique, Mouraux, Thierry, Logghe, Karel, Van Loocke, Marlies, Massa, Guy, Van de Vijver, Koen, Syryn, Hannes, Van De Velde, Julie, De Baere, Elfride, Verdin, Hannah, Cools, Martine B C M M.

المصدر: Human reproduction open, 2023 (4

مصطلحات موضوعية: Généralités, DHX37, differences of sex development (DSD), hormone replacement therapy, long-term outcome, testicular regression, vanished testes

وصف الملف: 1 full-text file(s): application/pdf

العلاقة: uri/info:doi/10.1093/hropen/hoad047; uri/info:scp/85181105731; https://dipot.ulb.ac.be/dspace/bitstream/2013/370741/1/doi_354385.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/370741Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/370741Test

المؤلفون: Felipe Rodrigues de Oliveira, Taís Nitsch Mazzola, Maricilda Palandi de Mello, Ana Paula Francese-Santos, Sofia Helena V. de Lemos-Marini, Andrea Trevas Maciel-Guerra, Olaf Hiort, Ralf Werner, Gil Guerra-Junior, Helena Fabbri-Scallet

المصدر: Life; Volume 13; Issue 5; Pages: 1093

مصطلحات موضوعية: DHX37, NR5A1, disorders of sex development, gonadal dysgenesis

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Medical Research; https://dx.doi.org/10.3390/life13051093Test

الإتاحة: https://doi.org/10.3390/life13051093Test

المؤلفون: Mcelreavey, Kenneth, Pailhoux, Eric, Bashamboo, Anu

المساهمون: Génétique du Développement humain - Human developmental genetics, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), A.B. and K.M. are funded by the Agence Nationale de la Recherche (ANR), ANR-10-LABX-73 REVIVE, ANR-17-CE14-0038-01. E.P., A.B., and K.M. are funded by ANR-19-CE14-0012-01., ANR-10-LABX-0073,REVIVE,Stem Cells in Regenerative Biology and Medicine(2010), ANR-17-CE14-0038,MGonDev,Etude des mécanismes du développement des gonades chez l'homme(2017), ANR-19-CE14-0012,RNA-SEX,Fonction de l'ARN hélicase dans la détermination du sexe chez les vertébrés et les troubles du développement du sexe chez l'homme (DSD)(2019)

المصدر: ISSN: 1661-5425.

مصطلحات موضوعية: DHX37, Disorders/differences of sex development, RNA helicase, Ribosome biogenesis, Ribosomopathy, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35835064; hal-03763397; https://hal.inrae.fr/hal-03763397Test; https://hal.inrae.fr/hal-03763397/documentTest; https://hal.inrae.fr/hal-03763397/file/522004.pdfTest; PUBMED: 35835064; WOS: 000829791300001

الإتاحة: https://doi.org/10.1159/000522004Test
https://hal.inrae.fr/hal-03763397Test
https://hal.inrae.fr/hal-03763397/documentTest
https://hal.inrae.fr/hal-03763397/file/522004.pdfTest

المؤلفون: Mcelreavey, Ken, Jørgensen, Anne, Eozenou, Caroline, Merel, Tiphanie, Bignon-Topalovic, Joelle, Tan, Daisylyn Senna, Houzelstein, Denis, Buonocore, Federica, Warr, Nick, Kay, Raissa, G G, Peycelon, Matthieu, Siffroi, Jean-Pierre, Mazen, Inas, Achermann, John, C, Shcherbak, Yuliya, Leger, Juliane, Sallai, Agnes, Carel, Jean-Claude, Martinerie, Laetitia, Le Ru, Romain, Conway, Gerard, Mignot, Brigitte, van Maldergem, Lionel, Bertalan, Rita, Globa, Evgenia, Brauner, Raja, Jauch, Ralf, Nef, Serge, Greenfield, Andy, Bashamboo, Anu

المساهمون: Génétique du Développement humain - Human developmental genetics, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Rigshospitalet Copenhagen, Copenhagen University Hospital, The University of Hong Kong (HKU), University College of London London (UCL), Medical Research Coucil Harwell Oxford, UK (MRC Harwell), MRC Harwell, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Robert Debré Paris, Hôpital Robert Debré, Indiana University - Purdue University Indianapolis (IUPUI), Indiana University System, 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), National Research Center Caire, Egypte, Semmelweis University Budapest, Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté COMUE (UBFC), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Institute for Women's Health London, University College London Hospitals (UCLH), Fondation Ophtalmologique Adolphe de Rothschild Paris, Université Paris Descartes - Paris 5 (UPD5), Université de Genève = University of Geneva (UNIGE), A.B. is funded in part by a research grant from the European Society of Pediatric Endocrinology, and by the Agence Nationale de la Recherche (ANR), ANR-10-LABX-73 REVIVE and ANR-17-CE14-0038-01. J.C.A. is a Wellcome Trust Senior Research Fellow in Clinical Science (grant 098513/Z/12/Z) with support from the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust, University College London, and Great Ormond Street Hospital Children’s Charity. A.G. acknowledges support from the UK Medical Research Council through core funding at the Harwell Institute (MC_U142684167). RJ is supported by a Research Grants Council of Hong Kong General Research Fund (RGC/GRF) project number 17128918, a Health and Medical Research Fund (06174006) and Germany/Hong Kong Joint Research Scheme sponsored by the Research Grants Council of Hong Kong and the German Academic Exchange. This work is supported by the COST Action DSDnet BM130., The authors thank Eszter Regős and Tamás Micsik, Semmelweis University, Budapest, Hungary and Ewa Rajpert-De Meyts, Rigshospitalet, Copenhagen, Denmark for valuable comments on the study., https://static-content.springer.com/esm/art%3A10.1038%2Fs41436-019-0606-y/MediaObjects/41436_2019_606_MOESM2_ESM.pdfTest, ANR-10-LABX-0073,REVIVE,Stem Cells in Regenerative Biology and Medicine(2010), ANR-17-CE14-0038,MGonDev,Etude des mécanismes du développement des gonades chez l'homme(2017)

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: disorders of sex development (DSD), ribosomopathy, testicular regression syndrome, RNA helicase, DHX37, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31337883; pasteur-02376177; https://pasteur.hal.science/pasteur-02376177Test; https://pasteur.hal.science/pasteur-02376177/documentTest; https://pasteur.hal.science/pasteur-02376177/file/s41436-019-0606-y.pdfTest; PUBMED: 31337883; PUBMEDCENTRAL: PMC6944638; WOS: 000510943400019

الإتاحة: https://doi.org/10.1038/s41436-019-0606-yTest
https://pasteur.hal.science/pasteur-02376177Test
https://pasteur.hal.science/pasteur-02376177/documentTest
https://pasteur.hal.science/pasteur-02376177/file/s41436-019-0606-y.pdfTest

المؤلفون: McElreavey, K, Jorgensen, A, Eozenou, C, Merel, T, Bignon-Topalovic, J, Tan, DS, Houzelstein, D, Buonocore, F, Warr, N, Kay, RGG, Peycelon, M, Siffroi, J-P, Mazen, I, Achermann, JC, Shcherbak, Y, Leger, J, Sallai, A, Carel, J-C, Martinerie, L, Le Ru, R, Conway, GS, Mignot, B, Van Maldergem, L, Bertalan, R, Globa, E, Brauner, R, Jauch, R, Nef, S, Greenfield, A, Bashamboo, A

المصدر: Genetics in Medicine (2019) (In press).

مصطلحات موضوعية: DHX37, RNA helicase, disorders of sex development (DSD), ribosomopathy, testicular regression syndrome

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10078985/1/McElreavey_s41436-019-0606-y.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10078985Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10078985/1/McElreavey_s41436-019-0606-y.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10078985Test/

المؤلفون: Kenneth McElreavey, Eric Pailhoux, Anu Bashamboo

المساهمون: Génétique du Développement humain - Human developmental genetics, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), A.B. and K.M. are funded by the Agence Nationale de la Recherche (ANR), ANR-10-LABX-73 REVIVE, ANR-17-CE14-0038-01. E.P., A.B., and K.M. are funded by ANR-19-CE14-0012-01., ANR-10-LABX-0073,REVIVE,Stem Cells in Regenerative Biology and Medicine(2010), ANR-17-CE14-0038,MGonDev,Etude des mécanismes du développement des gonades chez l'homme(2017), ANR-19-CE14-0012,RNA-SEX,Fonction de l'ARN hélicase dans la détermination du sexe chez les vertébrés et les troubles du développement du sexe chez l'homme (DSD)(2019)

المصدر: Sexual Development
Sexual Development, 2022, pp. 1-13. ⟨10.1159/000522004⟩

مصطلحات موضوعية: Gonadal Dysgenesis, 46,XY, Embryology, Heterozygote, DHX37, RNA helicase, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Ribosomopathy, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Disorders/differences of sex development, Ribosome biogenesis, Humans, RNA Helicases, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9878463106862a9b652ed029ef3f884fTest
https://hal.inrae.fr/hal-03763397Test

المؤلفون: Anu Bashamboo, Mehdi Totonchi, Masomeh Askari, Dominique Simon, Joelle Bignon-Topalovic, Daisylyn Senna Tan, Raja Brauner, Dalila Satta, Noureddine Abadi, Yasmina Benelmadani, Inas Mazen, Djalila Rezgoune, Karima Sifi, Asmahane Ladjouze, Mehrshad Seresht-Ahmadi, Mandana Rastari, Juliane Léger, Ralf Jauch, Housna Zidoune, Ken McElreavey, Laetitia Martinerie, Asma Boukri

المساهمون: Génétique du Développement humain - Human developmental genetics, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Université frères Mentouri Constantine I (UMC), Université Salah Boubnider Constantine 3, Centre de Référence des Maladies Endocriniennes Rares de la Croissance [APHP Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Cité (UPCité), The Chinese University of Hong Kong [Hong Kong], Academic Center for Education, Culture and Research (ACECR), Centre Hospitalier Universitaire de Bab-el-Oued, Centre Hospitalier Universitaire de Bab-el-Oued, Alger, Algérie., CHU Ibn Badis Constantine [Algérie], National Research Center [Caire, Egypte], Fondation Ophtalmologique Adolphe de Rothschild [Paris], Université Paris Descartes - Paris 5 (UPD5), ANR-17-CE14-0038,MGonDev,Etude des mécanismes du développement des gonades chez l'homme(2017), ANR-19-CE14-0012,RNA-SEX,Fonction de l'ARN hélicase dans la détermination du sexe chez les vertébrés et les troubles du développement du sexe chez l'homme (DSD)(2019), ANR-19-CE14-0022,SexDiff,Régulation de la détermination du sexe et de la différenciation ovarienne : implications dans les troubles du développement sexuel(2019)

المصدر: Sexual Development
Sexual Development, 2021, 15 (4), pp.244-252. ⟨10.1159/000515924⟩

مصطلحات موضوعية: Male, DHX37, Disorders of sexual development, endocrine system, Embryology, Ribosomopathy, [SDV]Life Sciences [q-bio], Endocrinology, Diabetes and Metabolism, Genetic disease, XY DSD, Gonadal dysgenesis, Biology, Gonadal Dysgenesis, XY gonadal dysgenesis, Ambiguous genitalia, Testis, Testicular regression syndrome, medicine, Humans, Missense mutation, Gonadal Dysgenesis, 46,XY, Genetics, Sex determination/differentiation, medicine.disease, RNA Helicase A, Phenotype, Testicular Regression, RNA Helicases, Developmental Biology, Congenital disorder

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06bc2bd44ba1a8418d509c5cf2c5cd40Test
https://doi.org/10.1159/000515924Test