المؤلفون: Hyon, Capucine

مرشدي الرسالة: Paris 6, Siffroi, Jean-Pierre

مصطلحات موضوعية: Anomalie du développement sexuel, SOX9, Insuffisance ovarienne prématurée, CPEB1, CASP3, REVSEX, Disorders of sex development, Disorders of gonadal development, 572.8

الإتاحة: http://www.theses.fr/2016PA066493/documentTest

المؤلفون: Portnoi, Marie-France, Dumargne, Marie-Charlotte, Rojo, Sandra, Witchel, Selma F, Duncan, Andrew J, Eozenou, Caroline, Bignon-Topalovic, Joelle, Yatsenko, Svetlana A, Rajkovic, Aleksandar, Reyes-Mugica, Miguel, Almstrup, Kristian, Fusee, Leila, Srivastava, Yogesh, Chantot-Bastaraud, Sandra, Hyon, Capucine, Louis-Sylvestre, Christine, Validire, Pierre, de Malleray Pichard, Caroline, Ravel, Celia, Christin-Maitre, Sophie, Brauner, Raja, Rossetti, Raffaella, Persani, Luca, Charreau, Eduardo H, Dain, Liliana, Chiauzzi, Violeta A, Mazen, Inas, Rouba, Hassan, Schluth-Bolard, Caroline, MacGowan, Stuart, McLean, WH Irwin, Patin, Etienne, Meyts, Ewa Rajpert-De, Jauch, Ralf, Achermann, John C, Siffroi, Jean-Pierre, McElreavey, Ken, Bashamboo, Anu

المصدر: Human Molecular Genetics. 27(7)

مصطلحات موضوعية: Rare Diseases, Contraception/Reproduction, Infertility, Clinical Research, Genetics, Aetiology, 2.1 Biological and endogenous factors, Reproductive health and childbirth, 46, XX Disorders of Sex Development, Adolescent, Child, Disorder of Sex Development, 46, XY, Female, Humans, Male, Mutation, Missense, Oligospermia, Primary Ovarian Insufficiency, SOXE Transcription Factors, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/41s0n02dTest

المؤلفون: Lambert, Sophie, Peycelon, Matthieu, Samara-Boustani, Dinane, Hyon, Capucine, Dumeige, Laurence, Peuchmaur, Michel, Fiot, Elodie, Léger, Juliane, Simon, Dominique, Paye-Jaouen, Annabel, Bouligand, Jérome, Siffroi, Jean Pierre, Carel, Jean-Claude, McElreavey, Ken, El Ghoneimi, Alaa, Brachet, Cécile, Bouvattier, Claire, Martinerie, Laetitia

المصدر: Clinical endocrinology

مصطلحات موضوعية: Endocrinologie, Diabétologie, Métabolisme, 46,XX-SRY-negative DSD, GnRH analog, minipuberty, ovotesticular DSD, testicular DSD

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

العلاقة: uri/info:doi/10.1111/cen.14389; uri/info:pmid/33296530; uri/info:scp/85098094779; https://dipot.ulb.ac.be/dspace/bitstream/2013/316705/3/manuscript2020.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/316705Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/316705Test
https://dipot.ulb.ac.be/dspace/bitstream/2013/316705/3/manuscript2020.pdfTest

المؤلفون: Peyrard, Thierry, Florent, Martine, Sardnal, Véronique, Tenon, Maxime, Laiguillon, Guy, Lefevre, Céline, Audinet, Laurène, Barka, Nadia, Hyon, Capucine, Chami, Btissam

المصدر: Transfusion Clinique et Biologique ; volume 30, page S48 ; ISSN 1246-7820

مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry, Hematology

الإتاحة: https://doi.org/10.1016/j.tracli.2023.09.034Test
https://api.elsevier.com/content/article/PII:S1246782023001350?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1246782023001350?httpAccept=text/plainTest

المؤلفون: Chami, Btissam, Hyon, Capucine, Peyrard, Thierry

المصدر: Transfusion Clinique et Biologique ; volume 30, page S19 ; ISSN 1246-7820

مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry, Hematology

الإتاحة: https://doi.org/10.1016/j.tracli.2023.09.349Test
https://api.elsevier.com/content/article/PII:S1246782023004500?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1246782023004500?httpAccept=text/plainTest

المؤلفون: Emandi, Adela, Chirita, Dobrescu, Andreea, Iulia, Doros, Gabriela, Hyon, Capucine, Miclea, Diana, Popoiu, Calin, Puiu, Maria, Arghirescu, Smaranda

المساهمون: Universitatea de Vest din Timișoara România = West University of Timișoara Romania = Université Ouest de Timișoara Roumanie (UVT), 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), Babes-Bolyai University Cluj-Napoca (UBB), Victor Babes University of Medicine and Pharmacy of Timisoara, POSCCE Project :1854, 48749, 677/09.04.2015

المصدر: ISSN: 2296-2360 ; Frontiers in Pediatrics ; https://hal.sorbonne-universite.fr/hal-02271922Test ; Frontiers in Pediatrics, 2019, 7, ⟨10.3389/fped.2019.00270⟩.

مصطلحات موضوعية: 3q29, cytogenetics, intellectual disability, cardiac malformation, behavior, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31338352; hal-02271922; https://hal.sorbonne-universite.fr/hal-02271922Test; https://hal.sorbonne-universite.fr/hal-02271922/documentTest; https://hal.sorbonne-universite.fr/hal-02271922/file/fped-07-00270.pdfTest; PUBMED: 31338352; PUBMEDCENTRAL: PMC6628938; WOS: 000474787200001

الإتاحة: https://doi.org/10.3389/fped.2019.00270Test
https://hal.sorbonne-universite.fr/hal-02271922Test
https://hal.sorbonne-universite.fr/hal-02271922/documentTest
https://hal.sorbonne-universite.fr/hal-02271922/file/fped-07-00270.pdfTest

المؤلفون: Chirita Emandi, Adela, Dobrescu, Andreea Iulia, Doros, Gabriela, Hyon, Capucine, Miclea, Diana, Popoiu, Calin, Puiu, Maria, Arghirescu, Smaranda

المساهمون: Autoritatea Natională pentru Cercetare Stiintifică

المصدر: Frontiers in Pediatrics ; volume 7 ; ISSN 2296-2360

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.3389/fped.2019.00270Test

المؤلفون: Bashamboo, Anu, Eozenou, Caroline, Jørgensen, Anne, Bignon-Topalovic, Joelle, Siffroi, Jean-Pierre, Hyon, Capucine, Tar, Attila, Nagy, Péter, Sólyom, Janos, Halász, Zita, Paye-Jaouen, Annnabel, Lambert, Sophie, Rodriguez-Buritica, David, Bertalan, Rita, Martinerie, Laetitia, Rajpert-de Meyts, Ewa, Achermann, John, C, Mcelreavey, Ken

المساهمون: Génétique du Développement humain - Human developmental genetics, Institut Pasteur Paris (IP), Department of Growth and Reproduction Rigshospitalet, Rigshospitalet Copenhagen, Copenhagen University Hospital-Copenhagen University Hospital, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Pál Heim Children's Hospital = Heim Pál Gyermekkórház Budapest, First Department of Pathology and Experimental Cancer Research, Semmelweis University Budapest, Chirurgie viscérale et urologie pédiatriques AP-HP Robert Debré, AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Endocrinologie et Diabétologie Pédiatriques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, McGovern Medical School Houston, Texas, The University of Texas Health Science Center at Houston (UTHealth), Copenhagen University Hospital, Institute of Child Health London, University College of London London (UCL), A.B. is funded in part by the program Actions Concertees Interpasteuriennes (ACIP) and a research grant from the European Society of Pediatric Endocrinology. A.B. and K.McE. are funded by a research grant from the EuroDSD in the European Community’s Seventh Framework Programme FP7/2007-2013 under grant agreement no. 201444 as well as grant no. 295097 as part of the EU call FP7-INCO-2011-6. J.C.A. is a Wellcome Trust Senior Research Fellow in Clinical Science (grant 098513/Z/12/Z, 209328/Z/17/Z) with research support from Great Ormond Street Hospital Children's Charity (grant V2518) and the NIHR GOSH BRC (IS-BRC-1215-20012)., This work is supported by the COST Action DSDnet BM1303., This work was funded by the Agence Nationale de la Recherche (Laboratoire d’Excellence Revive, Investissement d’Avenir, ANR-10-LABX-73)., The authors wish to thank Dr. Etienne Patin for comments on the manuscript., ANR-10-LABX-0073,REVIVE,Stem Cells in Regenerative Biology and Medicine(2010), European Project: 201444,EC:FP7:HEALTH,FP7-HEALTH-2007-A,EURODSD(2008), European Project: 295097,EC:FP7:INCO,FP7-INCO-2011-6,GM_NCD_IN_CO(2011)

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: testicular DSD, new syndrome, NR2F2, COUP-TF2, nuclear receptor, sex determination, MESH: 46, XX Disorders of Sex Development / genetics, MESH: Amino Acid Sequence, MESH: Humans, MESH: Loss of Function Mutation / genetics, MESH: Male, MESH: Ovary / growth & development, MESH: Ovary / metabolism, MESH: Phenotype, MESH: Testis / abnormalities, MESH: Testis / growth & development, MESH: Base Sequence, MESH: COUP Transcription Factor II / chemistry, MESH: COUP Transcription Factor II / genetics, MESH: Child, MESH: Female, MESH: Forkhead Box Protein L2 / metabolism, MESH: Frameshift Mutation / genetics, MESH: Heterozygote, [SDV]Life Sciences [q-bio], [SDV.BDLR.RS]Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29478779; info:eu-repo/grantAgreement/EC/FP7/201444/EU/Investigation of the molecular pathogenesis and pathophysiology of Disorders of Sex Development (DSD)/EURODSD; info:eu-repo/grantAgreement/EC/FP7/295097/EU/Reinforcing IPT capacities in Genomic Medicine, Non Communicable Diseases Investigation and international cooperation/GM_NCD_IN_CO; pasteur-02872425; https://pasteur.hal.science/pasteur-02872425Test; https://pasteur.hal.science/pasteur-02872425/documentTest; https://pasteur.hal.science/pasteur-02872425/file/Loss%20of%20Function%20of%20the%20Nuclear%20Receptor%20NR2F2,%20Encoding%20COUP-TF2.pdfTest; PUBMED: 29478779; PUBMEDCENTRAL: PMC5985285; WOS: 000426469600019

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.01.021Test
https://pasteur.hal.science/pasteur-02872425Test
https://pasteur.hal.science/pasteur-02872425/documentTest
https://pasteur.hal.science/pasteur-02872425/file/Loss%20of%20Function%20of%20the%20Nuclear%20Receptor%20NR2F2,%20Encoding%20COUP-TF2.pdfTest

المؤلفون: Dumeige, Laurence, Chatelais, Livie, Bouvattier, Claire, De Kerdanet, Marc, Hyon, Capucine, Esteva, Blandine, Samara-Boustani, Dinane, Zenaty, Delphine, Nicolino, Marc, Baron, Sabine, Metz-Blond, Chantal, Naud-Saudreau, Catherine, Dupuis, Clémentine, Léger, Juliane, Siffroi, Jean-Pierre, Donadille, Bruno, Christin-Maitre, Sophie, Carel, Jean-Claude, Coutant, Regis, Martinerie, Laetitia

المصدر: European Journal of Endocrinology ; volume 179, issue 3, page 181-190 ; ISSN 0804-4643 1479-683X

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

الإتاحة: https://doi.org/10.1530/eje-18-0309Test
https://eje.bioscientifica.com/view/journals/eje/179/3/EJE-18-0309.xmlTest

المؤلفون: Hyon, Capucine, Chantot-Bastaraud, Sandra, Harbuz, Radu, Bhouri, Rakia, Perrot, Nicolas, Peycelon, Matthieu, Sibony, Mathilde, Rojo, Sandra, Piguel, Xavier, Bilan, Frederic, Gilbert-Dussardier, Brigitte, Kitzis, Alain, Mcelreavey, Ken, Siffroi, Jean-Pierre, Bashamboo, Anu

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), Université Pierre et Marie Curie - Paris 6 (UPMC), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Génétique Médicale CHU Poitiers, Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Maternité Port-Royal CHU Cochin, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Tenon AP-HP, Institut Pasteur Paris (IP), Service Endocrinologie CHU Poitiers, Génétique du Développement humain - Human developmental genetics, We thank Joelle Bignon-Topalovic for technical assistance, Support for this work was provided by the Agence Nationale de la Recherche-GIS Institut des Maladies Rares (K.M.), March of Dimes Foundation Research Grant 1-FY07-490 (to K.M.), EuroDSD in the European Community’sSeventh Framework Programme FP7/2007–2013 under Grant 201444 (to K.M. and A.B.), European Project: 201444,EC:FP7:HEALTH,FP7-HEALTH-2007-A,EURODSD(2008)

المصدر: ISSN: 1552-4825.

مصطلحات موضوعية: XX DSD, duplication, regulatory element, SOX9 gene, CNV, MESH: Chromosome Aberrations, MESH: Disorders of Sex Development, MESH: Humans, MESH: Male, MESH: Regulatory Sequences, Nucleic Acid, MESH: SOX9 Transcription Factor, [SDV.GEN]Life Sciences [q-bio]/Genetics

الوقت: 46

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25900885; info:eu-repo/grantAgreement/EC/FP7/201444/EU/Investigation of the molecular pathogenesis and pathophysiology of Disorders of Sex Development (DSD)/EURODSD; hal-01311723; https://hal.sorbonne-universite.fr/hal-01311723Test; https://hal.sorbonne-universite.fr/hal-01311723/documentTest; https://hal.sorbonne-universite.fr/hal-01311723/file/Hyon_2015_Refining_the.pdfTest; PUBMED: 25900885; WOS: 000358597400148

الإتاحة: https://doi.org/10.1002/ajmg.a.37101Test
https://hal.sorbonne-universite.fr/hal-01311723Test
https://hal.sorbonne-universite.fr/hal-01311723/documentTest
https://hal.sorbonne-universite.fr/hal-01311723/file/Hyon_2015_Refining_the.pdfTest