المؤلفون: Atlas, Gabby, Hanna, Chloe, Tan, Tiong Yang, Tucker, Elena, Ayers, Katie, Sinclair, Andrew, O'Connell, Michele A.

المصدر: Clinical Endocrinology ; ISSN 0300-0664 1365-2265

الاتاحة: https://doi.org/10.1111/cen.15180
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cen.15180

المؤلفون: Lokchine, Anna, Bergougnoux, Anne, Servant, Nadège, Akloul, Linda, Launay, Erika, Mary, Laura, Cluzeau, Laurence, Philippe, Mathieu, Domin-Bernhard, Mathilde, Duros, Solène, Odent, Sylvie, Tucker, Elena, Paris, Françoise, Belaud-Rotureau, Marc‐antoine, Jaillard, Sylvie

المساهمون: Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Service de génétique clinique Rennes, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou -hôpital Sud, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique), University of Melbourne, Murdoch Children's Research Institute (MCRI), Hôpital Arnaud de Villeneuve CHU Montpellier, Développement Embryonnaire, Fertilité et Environnement (DEFE), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)

المصدر: ISSN: 1552-4825.

مصطلحات موضوعية: copy number variation, infertility, premature ovarian insufficiency, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/39497500; PUBMED: 39497500

الاتاحة: https://hal.science/hal-04767609
https://hal.science/hal-04767609v1/document
https://hal.science/hal-04767609v1/file/2024%20Lokchine%20%20%20et%20al.,%20Identification.pdf
https://doi.org/10.1002/ajmg.a.63924

المؤلفون: Kline, Brianna L, Siddall, Nicole A, Wijaya, Fernando, Stuart, Catherine J, Orlando, Luisa, Bakhshalizadeh, Shabnam, Afkhami, Fateme, Bell, Katrina M, Jaillard, Sylvie, Robevska, Gorjana, van den Bergen, Jocelyn A, Shahbazi, Shirin, van Hoof, Ambro, Ayers, Katie L, Hime, Gary R, Sinclair, Andrew H, Tucker, Elena J

المساهمون: National Health and Medical Research Council, NHMRC, Norman Beischer Scientific Fellowship, Melbourne International Research Scholarship, National Institutes of Health

المصدر: Biology of Reproduction ; volume 112, issue 1, page 102-118 ; ISSN 0006-3363 1529-7268

الاتاحة: https://doi.org/10.1093/biolre/ioae148
https://academic.oup.com/biolreprod/advance-article-pdf/doi/10.1093/biolre/ioae148/60135983/ioae148.pdf
https://academic.oup.com/biolreprod/article-pdf/112/1/102/60135983/ioae148.pdf

المؤلفون: Atlas, Gabby, Hanna, Chloe, Tan, Tiong Yang, Nisselle, Amy, Tucker, Elena, Ayers, Katie, Sinclair, Andrew, O'Connell, Michele A.

المصدر: Clinical Endocrinology ; ISSN 0300-0664 1365-2265

الاتاحة: http://dx.doi.org/10.1111/cen.15123
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cen.15123

المؤلفون: Bakhshalizadeh, Shabnam, Afkhami, Fateme, Bell, Katrina M, Robevska, Gorjana, van den Bergen, Jocelyn, Cronin, Sara, Jaillard, Sylvie, Ayers, Katie L., Kumar, Pramod, Siebold, Christian, Xiao, Zhangping, Tate, Edward W., Danaei, Shahla, Farzadi, Laya, Shahbazi, Shirin, Sinclair, Andrew H., Tucker, Elena J.

المساهمون: Mercer Australia Melbourne, University of Melbourne, Tarbiat Modares University Tehran, Murdoch Children's Research Institute (MCRI), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), École des Hautes Études en Santé Publique EHESP (EHESP), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, University of Oxford, Imperial College London, University of Tabriz Tabriz, The research conducted at the Murdoch Children's Research Institute was supported by the Victorian government's operational infrastructure support program. This work also was supported by Cancer Research UK (DRCRPG-May23/100002 and C20724/A26752 to C.S., and C29637/A20183 and DRCNPG-Nov21/100001, with support from the Engineering and Physical Sciences Research Council, to E.W.T.), the BBSRC (BB/T01508X/1 to E.W.T. and C.S.), and UKRI (UKRI Postdoc Guarantee EP/X02749X/1 to Z.X. and E.W.T.).This work was also supported by a National Health and Medical Research Council (NHMRC) program grant (1074258 to Andrew H. Sinclair), NHMRC fellowships (1054432 to Elena J. Tucker,1062854 to Andrew H. Sinclair), a Suzi Carp postdoctoral scholarship (to Elena J. Tucker), a CHU Rennes grant (Appel à Projects Innovations 2019 to Sylvie Jaillard), Melbourne International Research Scholarship and David Danks PhD Top-up Scholarship (Shabnam Bakhshalizadeh).

المصدر: ISSN: 0303-7207.

مصطلحات موضوعية: Amenorrhea, Infertility, Premature ovarian insufficiency, Whole exome sequencing, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism

Relation: info:eu-repo/semantics/altIdentifier/pmid/38521400; hal-04534257; https://hal.science/hal-04534257; https://hal.science/hal-04534257/document; https://hal.science/hal-04534257/file/Bakhshalizadeh%20et%20al.%20-%202024%20-%20Diverse%20genetic%20causes%20of%20amenorrhea%20in%20an%20ethnically%20homogeneous%20cohort%20and%20an%20evolving%20approach%20to%20diagnosis.pdf; PUBMED: 38521400

الاتاحة: https://hal.science/hal-04534257
https://hal.science/hal-04534257/document
https://hal.science/hal-04534257/file/Bakhshalizadeh%20et%20al.%20-%202024%20-%20Diverse%20genetic%20causes%20of%20amenorrhea%20in%20an%20ethnically%20homogeneous%20cohort%20and%20an%20evolving%20approach%20to%20diagnosis.pdf
https://doi.org/10.1016/j.mce.2024.112212

المؤلفون: Bakhshalizadeh, Shabnam, D. Bird, Anthony, Sreenivasan, Rajini, Bell, Katrina M, Robevska, Gorjana, van den Bergen, Jocelyn, Asghari-Jafarabadi, Mohammad, Kueh, Andrew J., Touraine, Philippe, Lokchine, Anna, Jaillard, Sylvie, Ayers, Katie, Wilhelm, Dagmar, Sinclair, Andrew, Tucker, Elena J.

المساهمون: The Royal Melbourne Hospital, Monash Medical Centre Clayton, Australia, Monash university, University of Melbourne, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), National Health and Medical Research Council: 1074258

المصدر: ISSN: 2073-4425 ; Genes ; https://hal.science/hal-04512992 ; Genes, 2024, Genes, 15 (3), pp.333-333. ⟨10.3390/genes15030333⟩.

مصطلحات موضوعية: premature ovarian insufficiency, HELQ, ovarian development, infertility, [SDV]Life Sciences [q-bio]

Relation: hal-04512992; https://hal.science/hal-04512992; https://hal.science/hal-04512992/document; https://hal.science/hal-04512992/file/genes-15-00333-v2.pdf

الاتاحة: https://hal.science/hal-04512992
https://hal.science/hal-04512992/document
https://hal.science/hal-04512992/file/genes-15-00333-v2.pdf
https://doi.org/10.3390/genes15030333

المؤلفون: Tucker, Elena J., Sharp, Michael F., Lokchine, Anna, Bell, Katrina M., Palmer, Catherine S., Kline, Brianna L., Robevska, Gorjana, van den Bergen, Jocelyn, Dulon, Jérôme, Stojanovski, Diana, Ayers, Katie L., Touraine, Philippe, Crismani, Wayne, Jaillard, Sylvie, Sinclair, Andrew H.

المساهمون: National Health and Medical Research Council, State Government of Victoria, Centre Hospitalier Universitaire de Rennes

المصدر: Clinical Genetics ; volume 106, issue 3, page 321-335 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14543
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14543

المؤلفون: Stenta, Tayla, Assis, Michael, Ayers, Katie, Tucker, Elena J., Halman, Andreas, Gook, Debra, Sinclair, Andrew H., Elliott, David A., Jayasinghe, Yasmin, Conyers, Rachel

المساهمون: Novo Nordisk Fonden, Cancer Council Victoria

المصدر: Clinical and Translational Science ; volume 17, issue 6 ; ISSN 1752-8054 1752-8062

الاتاحة: http://dx.doi.org/10.1111/cts.13827
https://ascpt.onlinelibrary.wiley.com/doi/pdf/10.1111/cts.13827

المؤلفون: Kline, Brianna, Siddall, Nicole, Dulon, Jerome, Bakhshalizadeh, Shabnam, Bell, Katrina, Jaillard, Sylvie, Robevska, Gorjana, van den Bergen, Jocelyn, Ayers, Katie, Touraine, Philippe, Hime, Gary, Sinclair, Andrew, Tucker, Elena

مصطلحات موضوعية: Ovary, RNA, Infertility, Menopause, Exosome

Relation: https://dx.doi.org/10.17632/x54scv9w28

الاتاحة: https://dx.doi.org/10.17632/x54scv9w28.1
https://data.mendeley.com/datasets/x54scv9w28/1

المؤلفون: Bakhshalizadeh, Shabnam, Hock, Daniella, Siddall, Nicole, Kline, Brianna, Sreenivasan, Rajini, Bell, Katrina, Casagranda, Franca, Kamalanathan, Sadishkumar, Sahoo, Jayaprakash, Narayanan, Niya, Naik, Dukhabandhu, Suryadevara, Varun, Compton, Alison, Amarasekera, Sumudu, Kapoor, Ridam, Jaillard, Sylvie, Simpson, Andrea, Robevska, Gorjana, van den Bergen, Jocelyn, Pachernegg, Svenja, Ayers, Katie, Thorburn, David, Stroud, David, Hime, Gary, Sinclair, Andrew, Tucker, Elena

المساهمون: Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), École des Hautes Études en Santé Publique EHESP (EHESP), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, University of Melbourne, Murdoch Children's Research Institute (MCRI)

المصدر: ISSN: 0340-6717.

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

Relation: hal-04205616; https://univ-rennes.hal.science/hal-04205616; https://univ-rennes.hal.science/hal-04205616/document; https://univ-rennes.hal.science/hal-04205616/file/s00439-023-02563-z.pdf

الاتاحة: https://univ-rennes.hal.science/hal-04205616
https://univ-rennes.hal.science/hal-04205616/document
https://univ-rennes.hal.science/hal-04205616/file/s00439-023-02563-z.pdf
https://doi.org/10.1007/s00439-023-02563-z

المؤلفون: Neyroud, Anne-Sophie, Rudinger-Thirion, Joëlle, Frugier, Magali, Riley, Lisa, G, Bidet, Maud, Akloul, Linda, Simpson, Andrea, Gilot, David, Christodoulou, John, Ravel, Célia, Sinclair, Andrew H., Belaud-Rotureau, Marc-Antoine, Tucker, Elena J., Jaillard, Sylvie

المساهمون: Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Architecture et Réactivité de l'ARN (ARN), Institut de biologie moléculaire et cellulaire (IBMC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), The University of Sydney, Clinique mutualiste La Sagesse, La Trobe University Melbourne, Charles Darwin University Australia, Oncogenesis, Stress, Signaling (OSS), Université de Rennes (UR)-CRLCC Eugène Marquis (CRLCC), UNICANCER-UNICANCER-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Melbourne, Murdoch Children's Research Institute (MCRI), This work was supported by a CHU Rennes grant (Appel à Projets Innovations 2019 to SJ), an Australian NHMRC program grant (1074258 to AHS), NHMRC fellowships (1054432 to EJT, 1062854 to AHS) and an Australian Mito Foundation grant (EJT). Part of this work was performed under the Rare Diseases Functional Genomics program, supported by the Luminesce Alliance—Innovation for Children’s Health, a not for profit cooperative joint venture between the Sydney Children’s Hospitals Network, the Children’s Medical Research Institute, and the Children’s Cancer Institute. It has been established with the support of the NSW Government to coordinate and integrate pediatric research. Luminesce Alliance is also affiliated with the University of Sydney and the University of New South Wales Sydney (LGR). The research conducted at the Murdoch Children’s Research Institute was supported by the Victorian government’s operational infrastructure support program. The Chair in Genomic Medicine awarded to JC is generously supported by The Royal Children’s Hospital Foundation.

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/36450801; hal-03888946; https://hal.science/hal-03888946; https://hal.science/hal-03888946/document; https://hal.science/hal-03888946/file/13preprint-LARS2.pdf; PUBMED: 36450801

الاتاحة: https://hal.science/hal-03888946
https://hal.science/hal-03888946/document
https://hal.science/hal-03888946/file/13preprint-LARS2.pdf
https://doi.org/10.1038/s41431-022-01252-1

المؤلفون: de Oliveira, Vanessa Cristina, Santos Roballo, Kelly Cristine, Mariano Junior, Clesio Gomes, Santos, Sarah Ingrid Pinto, Bressan, Fabiana Fernandes, Chiaratti, Marcos Roberto, Tucker, Elena J., Davis, Erica E., Concordet, Jean-Paul, Ambrosio, Carlos Eduardo

مصطلحات موضوعية: CRISPR-Cas9, gene editing, HEK293T cells, mitochondrial DNA, TFAM

وصف الملف: application/pdf

Relation: 22; http://hdl.handle.net/10919/111618; https://doi.org/10.3390/life12010022; 12

الاتاحة: http://hdl.handle.net/10919/111618
https://doi.org/10.3390/life12010022

المؤلفون: Tucker, Elena, Baker, Megan, Hock, Daniella, Warren, Julia, Jaillard, Sylvie, Bell, Katrina, Sreenivasan, Rajini, Bakhshalizadeh, Shabnam, Hanna, Chloe, Caruana, Nikeisha, Wortmann, Saskia, Rahman, Shamima, Pitceathly, Robert, Donadieu, Jean, Alimi, Aurelia, Launay, Vincent, Coppo, Paul, Christin-Maitre, Sophie, Robevska, Gorjana, van den Bergen, Jocelyn, Kline, Brianna, Ayers, Katie, Stewart, Phoebe, Stroud, David, Stojanovski, Diana, Sinclair, Andrew

المساهمون: University of Melbourne, Murdoch Children's Research Institute (MCRI), Durham University, Washington University School of Medicine Saint Louis, MO, Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique), Royal Children's Hospital Melbourne, Victoria University Melbourne, Paracelsus Medizinische Privatuniversität = Paracelsus Medical University (PMU), Amalia Children’s Hospital Nijmegen, The Netherlands, Great Ormond Street Hospital for Children NHS Foundation Trust London, UK (GOSHC), UCL Institute of Neurology, Queen Square London, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre hospitalier de Saint-Brieuc Hôpital Yves Le Foll (CH Saint-Brieuc), Groupement Hospitalier Territoire d'Armor (GHT Armor), CHU Saint-Antoine AP-HP, Sorbonne Université (SU), Royal Hobart Hospital, This work was supported by an National Health and Medical Research Council (NHMRC) program grant (1074258 toA.H.S.), NHMRC grant (1140906 to D.A.S.), NHMRC fellowships (1054432 to E.J.T., 1126995 to R.S., 2009732 to D.A.S., 1062854 to A.H.S.), a Suzi Carp postdoctoral scholarship (to E.J.T.), a CHU Rennes grant (Appel à Projets Innovations 2019 to S.J.), an Australian Government Research Training Program scholarship (to M.J.B.), the Australian Mito Foundation for provision of instrumentation, incubator grants (to E.J.T. and D.S.), a Booster grant (to D.S.) and PhD Top-up scholarships (to M.J.B. and D.H.H.), and a Medical Research Council (UK) Clinician Scientist Fellowship (MR/S002065/1 to R.D.S.P.). S.B.W. was funded by ERAPERMED2019-310—Personalized Mitochondrial Medicine (PerMiM): Optimizing diagnostics and treatment for patients with mitochondrial diseases (FWF 4704-B).

المصدر: ISSN: 0021-972X.

مصطلحات موضوعية: CLPB, genetics, infertility, mitochondria, neutropenia, premature ovarian insufficiency, primary mitochondrial disease, [SDV]Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/36074910; PUBMED: 36074910; PUBMEDCENTRAL: PMC9693831; WOS: 000863922900001

الاتاحة: https://hal.science/hal-03789813
https://hal.science/hal-03789813v1/document
https://hal.science/hal-03789813v1/file/dgac528.pdf
https://doi.org/10.1210/clinem/dgac528

المؤلفون: Tucker, Elena J., Gutfreund, Niklas, Belaud-Rotureau, Marc-Antoine, Gilot, David, Brun, Tiffany, Kline, Brianna L, Bell, Katrina M, Domin-Bernhard, Mathilde, Théard, Camille, Touraine, Philippe, Robevska, Gorjana, van van den Bergen, Jocelyn, Ayers, K, Sinclair, Andrew H., Dotsch, Volker, Jaillard, Sylvie

المساهمون: University of Melbourne, Murdoch Children's Research Institute (MCRI), Institute of Biochemistry and Signal Transduction Hamburg, Germany, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf Hamburg (UKE), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), École des Hautes Études en Santé Publique EHESP (EHESP), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, CRLCC Eugène Marquis (CRLCC), UNICANCER, Oncogenesis, Stress, Signaling (OSS), Université de Rennes (UR)-CRLCC Eugène Marquis (CRLCC), UNICANCER-UNICANCER-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de référence Maladies Rares CLAD-Ouest Rennes, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), This study was supported by a CHU Rennes grant (Appel à Projets Innovations 2019 to SJ), an Australian National Health and Medical Research Council (NHMRC) program grant (1074258 to AHS), NHMRC fellowships (1054432 to EJT, 1062854 to AHS), a Suzi Carp postdoctoral scholarship (to EJT) and the Deutsche Forschungsgemeinschaft (DO 545/18-1). The research conducted at the Murdoch Children's Research Institute was supported by the Victorian government's operational infrastructure support program. We thank the Bioinformatic department of Rennes University Hospital (Pr M. De Tayrac and Dr W. Carré) for technical assistance. Open access publishing facilitated by The University of Melbourne, as part of the Wiley - The University of Melbourne agreement via the Council of Australian University Librarians.

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: TAp63α, TP63, genomic diagnosis, infertility, p63 isoforms, premature ovarian insufficiency, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/35801529; hal-03771906; https://hal.science/hal-03771906; https://hal.science/hal-03771906/document; https://hal.science/hal-03771906/file/Human%20Mutation%20-%202022%20-%20Tucker%20-%20Dominant%20TP63%20missense%20variants%20lead%20to%20constitutive%20activation%20and%20premature%20ovarian.pdf; PUBMED: 35801529

الاتاحة: https://hal.science/hal-03771906
https://hal.science/hal-03771906/document
https://hal.science/hal-03771906/file/Human%20Mutation%20-%202022%20-%20Tucker%20-%20Dominant%20TP63%20missense%20variants%20lead%20to%20constitutive%20activation%20and%20premature%20ovarian.pdf
https://doi.org/10.1002/humu.24432

المؤلفون: Toujani, Saloua, Tucker, Elena J, Akloul, Linda, Mary, Laura, Pimentel, Céline, Launay, Erika, Freton, Lucas, Jouve, Guilhem, Henry, Catherine, Odent, Sylvie, Belaud-Rotureau, Marc-Antoine, Jaillard, Sylvie

المساهمون: Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, University of Melbourne, Murdoch Children's Research Institute (MCRI), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), École des Hautes Études en Santé Publique EHESP (EHESP), This work was supported by Rennes University Hospital and Rennes 1 University, France.

المصدر: ISSN: 1424-8581.

مصطلحات موضوعية: FISH, Pseudodicentric chromosome, X chromosome, Chromosome rearrangement, Cryptozoospermia, [SDV]Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/35609520; hal-03714551; https://hal.science/hal-03714551; https://hal.science/hal-03714551/document; https://hal.science/hal-03714551/file/Toujani%20et%20al%20-%202022%20-%20Pseudodicentric%20Chromosome%20Originating%20from%20an%20X-Autosome%20Translocation.pdf; PUBMED: 35609520

الاتاحة: https://hal.science/hal-03714551
https://hal.science/hal-03714551/document
https://hal.science/hal-03714551/file/Toujani%20et%20al%20-%202022%20-%20Pseudodicentric%20Chromosome%20Originating%20from%20an%20X-Autosome%20Translocation.pdf
https://doi.org/10.1159/000524388

المؤلفون: Kline, Brianna L, Jaillard, Sylvie, Bell, Katrina M, Bakhshalizadeh, Shabnam, Robevska, Gorjana, van den Bergen, Jocelyn, Dulon, Jérôme, Ayers, Katie L., Christodoulou, John, Tchan, Michel C, Touraine, Philippe, Sinclair, Andrew H., Tucker, Elena J.

المساهمون: Murdoch Children's Research Institute (MCRI), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), École des Hautes Études en Santé Publique EHESP (EHESP), The Royal Melbourne Hospital, University of Melbourne, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Westmead Hospital Sydney

المصدر: ISSN: 2073-4425 ; Genes ; https://hal.science/hal-03898182 ; Genes, 2022, 13 (11), ⟨10.3390/genes13112113⟩.

مصطلحات موضوعية: MRPS7, Perrault syndrome, mitochondrial disease, mitochondrial ribosome, ovarian dysfunction, premature ovarian insufficiency, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/36421788; hal-03898182; https://hal.science/hal-03898182; https://hal.science/hal-03898182/document; https://hal.science/hal-03898182/file/genes-13-02113-v2.pdf; PUBMED: 36421788

الاتاحة: https://hal.science/hal-03898182
https://hal.science/hal-03898182/document
https://hal.science/hal-03898182/file/genes-13-02113-v2.pdf
https://doi.org/10.3390/genes13112113

المؤلفون: Tucker, Elena J, Baker, Megan J, Hock, Daniella H, Warren, Julia T, Jaillard, Sylvie, Bell, Katrina M, Sreenivasan, Rajini, Bakhshalizadeh, Shabnam, Hanna, Chloe A, Caruana, Nikeisha J, Wortmann, Saskia B, Rahman, Shamima, Pitceathly, Robert DS, Donadieu, Jean, Alimi, Aurelia, Launay, Vincent, Coppo, Paul, Christin-Maitre, Sophie, Robevska, Gorjana, van den Bergen, Jocelyn, Kline, Brianna L, Ayers, Katie L, Stewart, Phoebe N, Stroud, David A, Stojanovski, Diana, Sinclair, Andrew H

المصدر: Journal of Clinical Endocrinology and Metabolism , 107 (12) pp. 3328-3340. (2022)

مصطلحات موضوعية: CLPB, genetics, infertility, mitochondria, neutropenia, premature ovarian insufficiency, primary mitochondrial disease

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10155638/1/dgac528.pdf; https://discovery.ucl.ac.uk/id/eprint/10155638/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10155638/1/dgac528.pdf
https://discovery.ucl.ac.uk/id/eprint/10155638/

المؤلفون: Sreenivasan, Rajini, Bell, Katrina, van den Bergen, Jocelyn, Robevska, Gorjana, Belluoccio, Daniele, Dahiya, Rachana, Leong, Gary M., Dulon, Jérôme, Touraine, Philippe, Tucker, Elena J., Ayers, Katie, Sinclair, Andrew

المساهمون: NHMRC, Endocrine Society of Australia, State Government of Victoria

المصدر: Molecular and Cellular Endocrinology ; volume 546, page 111570 ; ISSN 0303-7207

الاتاحة: http://dx.doi.org/10.1016/j.mce.2022.111570
https://api.elsevier.com/content/article/PII:S030372072200017X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S030372072200017X?httpAccept=text/plain

المؤلفون: Tucker, Elena J.

المصدر: Sexual Development ; volume 16, issue 2-3, page 184-193 ; ISSN 1661-5425 1661-5433

الاتاحة: http://dx.doi.org/10.1159/000519836
https://www.karger.com/Article/Pdf/519836

المؤلفون: Tucker, Elena J., Jaillard, Sylvie, Sinclair, Andrew H.

المساهمون: Murdoch Children's Research Institute (MCRI), École des Hautes Études en Santé Publique EHESP (EHESP), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou

المصدر: Human Reproductive and Prenatal Genetics ; https://hal.science/hal-04300701 ; Human Reproductive and Prenatal Genetics, Elsevier, pp.439-461, 2023, 978-032391380-5; 978-032391381-2. ⟨10.1016/B978-0-323-91380-5.00027-7⟩

مصطلحات موضوعية: Genetics, Genomics, Infertility, Menopause, Oocytes, Oogenesis, Ovarian development, Premature ovarian failure, Primary ovarian insufficiency, [SDV]Life Sciences [q-bio]

Relation: hal-04300701; https://hal.science/hal-04300701

الاتاحة: https://hal.science/hal-04300701
https://doi.org/10.1016/B978-0-323-91380-5.00027-7