المؤلفون: David J. Anderson, David I. Kaplan, Katrina M. Bell, Katerina Koutsis, John M. Haynes, Richard J. Mills, Dean G. Phelan, Elizabeth L. Qian, Ana Rita Leitoguinho, Deevina Arasaratnam, Tanya Labonne, Elizabeth S. Ng, Richard P. Davis, Simona Casini, Robert Passier, James E. Hudson, Enzo R. Porrello, Mauro W. Costa, Arash Rafii, Clare L. Curl, Lea M. Delbridge, Richard P. Harvey, Alicia Oshlack, Michael M. Cheung, Christine L. Mummery, Stephen Petrou, Andrew G. Elefanty, Edouard G. Stanley, David A. Elliott

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/0896462d0f5d479da41ae7191f638c59

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

المصدر: Genes, Vol 15, Iss 3, p 333 (2024)

مصطلحات موضوعية: premature ovarian insufficiency, HELQ, ovarian development, infertility, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/3/333; https://doaj.org/toc/2073-4425; https://doaj.org/article/383691b216c94b25a4262dd954d7da3e

الاتاحة: https://doi.org/10.3390/genes15030333
https://doaj.org/article/383691b216c94b25a4262dd954d7da3e

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

المصدر: Genes; Volume 13; Issue 11; Pages: 2113

مصطلحات موضوعية: premature ovarian insufficiency, Perrault syndrome, MRPS7, mitochondrial disease, ovarian dysfunction, mitochondrial ribosome

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13112113

الاتاحة: https://doi.org/10.3390/genes13112113

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

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), CHU Pontchaillou [Rennes], CRLCC Eugène Marquis (CRLCC), Oncogenesis, Stress, Signaling (OSS), Université de Rennes (UR)-CRLCC Eugène Marquis (CRLCC)-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: Human Mutation
Human Mutation, 2022, 43 (10), pp.1443-1453. ⟨10.1002/humu.24432⟩

مصطلحات موضوعية: premature ovarian insufficiency, [SDV]Life Sciences [q-bio], Tumor Suppressor Proteins, Mutation, Missense, Primary Ovarian Insufficiency, TAp63α, genomic diagnosis, Genetics, Humans, Female, TP63, infertility, p63 isoforms, Genetics (clinical), Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8cb9bc9189a89315acaf4f0cb3a81cc
https://doi.org/10.1002/humu.24432

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

المصدر: Human Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7c33a27deba34546e5f44fbbc71ef915
https://doi.org/10.1007/s00439-023-02563-z

المؤلفون: Shireen R. Lamandé, Elizabeth S. Ng, Trevor L. Cameron, Louise H. W. Kung, Lisa Sampurno, Lynn Rowley, Jinia Lilianty, Yudha Nur Patria, Tayla Stenta, Eric Hanssen, Katrina M. Bell, Ritika Saxena, Kathryn S. Stok, Edouard G. Stanley, Andrew G. Elefanty, John F. Bateman

المصدر: Proceedings of the National Academy of Sciences. 120

مصطلحات موضوعية: Multidisciplinary

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f44005e5885c5223c651c0ebe78aa93d
https://doi.org/10.1073/pnas.2211510120

المؤلفون: Fraser M. Rogerson, Karena Last, Suzanne B. Golub, Stephanie J. Gauci, Heather Stanton, Katrina M. Bell, Amanda J. Fosang

المصدر: International Journal of Molecular Sciences; Volume 20; Issue 3; Pages: 573

مصطلحات موضوعية: aggrecan, aggrecanase, ADAMTS, cartilage, arthritis

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Biochemistry; https://dx.doi.org/10.3390/ijms20030573

الاتاحة: https://doi.org/10.3390/ijms20030573

المؤلفون: Edwin P. Kirk, Robert W. Taylor, Canny Sugiana, Denise M. Kirby, Avihu Boneh, Hans Henrik M. Dahl, Renato Salemi, Katrina M. Bell, Akira Ohtake, David R. Thorburn, Michael T. Ryan, Lee Parry

مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Adolescent, Respiratory chain, Biology, medicine.disease_cause, Models, Biological, DNA, Mitochondrial, Article, Oxidative Phosphorylation, Cell Line, Cell Fusion, medicine, Humans, Age of Onset, QH426, Gene, Genetics, NDUFS6, Mutation, Electron Transport Complex I, Models, Genetic, Point mutation, Genetic Complementation Test, NADH Dehydrogenase, General Medicine, Disease gene identification, Molecular biology, Mitochondria, Pedigree, Complementation, Child, Preschool, Lactates, Commentary, Female

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d509e64439ba9680fdc699a1acc871a

المؤلفون: Simon Sadedin, Alison Yeung, Natasha J Brown, David S. Francis, Katrina M. Bell, David R. Thorburn, Lyndon Gallacher, Justine Elliott, Michelle G. de Silva, Alysia Lovgren, Lilian Downie, Anne H. O’Donnell-Luria, Chloe A Stutterd, Sze Chern Lim, George McGillivray, Martin B. Delatycki, Zornitza Stark, Thomas Cloney, John Christodoulou, Tiong Yang Tan, Susan M. White, Lynn Pais, Cas Simons, Daniel G. MacArthur, Ralph Oertel, Alison G. Compton, Guy Helman, Natalie B Tan

المصدر: J Med Genet

مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, business.industry, Australia, Genomics, Undiagnosed Diseases, Genome, Article, DNA sequencing, Rare Diseases, Family medicine, Exome Sequencing, Genetics, medicine, Humans, Medical genetics, Exome, Medical diagnosis, business, Genetics (clinical), Exome sequencing, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca73f191cc970a16feab466941b8d511
https://doi.org/10.1136/jmedgenet-2021-107902

المؤلفون: Farid Ullah, Nicholas Katsanis, Sheraz Khan, Sijie He, Katrina M. Bell, Shabnam Bakhshalizadeh, Waqar Rauf, Andrew H. Sinclair, Erica E. Davis, Elena J. Tucker, Kamal Khan, Vanessa Cristina de Oliveira, Philippe Touraine, Shahid Mahmood Baig, Muhammad Tariq

المصدر: Human Genetics. 140:1733-1751

مصطلحات موضوعية: Genetics, Mitochondrial DNA, biology, Genetic heterogeneity, Mitochondrial disease, TFAM, Mitochondrion, biology.organism_classification, medicine.disease, medicine, Missense mutation, Zebrafish, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1aab077617005285eb81f440acc579f7
https://doi.org/10.1007/s00439-021-02380-2

المؤلفون: Edward K Murrell, Vihandha O. Wickramasinghe, Sean Massey, Russell Gear, Susan M. White, Lyndon Gallacher, John Christodoulou, Lynn Pais, Kate Pope, Cas Simons, Kirsty Carey, Paul J. Lockhart, Katrina M. Bell, Andrew J. Kornberg, Nicole J Van Bergen, Marzena Walkiewicz

المصدر: Hum Mol Genet

مصطلحات موضوعية: Genetics, Microcephaly, Ataxia, Alternative splicing, Nuclear Proteins, RNA, General Medicine, Biology, medicine.disease, Phenotype, Nuclear Pore Complex Proteins, Intellectual Disability, Proto-Oncogene Proteins, medicine, Humans, General Article, Nucleoporin, TRANSLOCATED PROMOTER REGION, medicine.symptom, Nuclear pore, Promoter Regions, Genetic, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c6d29f39246178351309c112f65cdd1
https://doi.org/10.1093/hmg/ddab248

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

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)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], 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), CHU de Saint-Brieuc, 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: Journal of Clinical Endocrinology and Metabolism, 107, 12, pp. 3328-3340
Journal of Clinical Endocrinology and Metabolism, 107, 3328-3340
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2022, ⟨10.1210/clinem/dgac528⟩

مصطلحات موضوعية: Proteomics, premature ovarian insufficiency, Neutropenia, [SDV]Life Sciences [q-bio], Endocrinology, Diabetes and Metabolism, primary mitochondrial disease, Biochemistry (medical), Clinical Biochemistry, Menopause, Premature, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Endopeptidase Clp, Primary Ovarian Insufficiency, Biochemistry, Cataract, mitochondria, Endocrinology, Phenotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, CLPB, Humans, genetics, Female, infertility, Transcriptome

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e19e3ab2117292386cfd6e43b40e1c1
https://pubmed.ncbi.nlm.nih.gov/36074910

المؤلفون: Kenneth McElreavy, Sylvie Jaillard, Claude Bendavid, Katrina M. Bell, Laurence Cornevin, Sylvie Odent, Marion Beaumont, Nurin Aisyiyah Listyasari, Kelly L. Walton, Nathalie Dejucq-Rainsford, William A. Stocker, Rajini Sreenivasan, Andrew H. Sinclair, Catherine Henry, Craig Harrisson, Célia Ravel, Solène Duros, Jocelyn van den Bergen, Elena J. Tucker, Katie L. Ayers, Anne-Pascale Satie, Erika Launay, Linda Akloul, Marc-Antoine Belaud-Rotureau, Gorjana Robevska, Mathilde Domin-Bernhard, Jorma J. Palvimo, Tiina Jääskeläinen

المساهمون: Institut de recherche en santé, environnement et travail (Irset), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), CHU Pontchaillou [Rennes], École des Hautes Études en Santé Publique [EHESP] (EHESP), Murdoch Children's Research Institute (MCRI), Monash Biomedicine Discovery Institute, Monash University [Clayton], Génétique du Développement humain - Human developmental genetics, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Swinburne University of Technology (Hawthorn campus), University of Eastern Finland, Diponegoro University, Nutrition, Métabolismes et Cancer (NuMeCan), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), University of Melbourne, National Health and Medical Research Council, NHMRC 1074258, 1062854Chung Hua University, CHU 1054432State Government of Victoria, Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-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 ), 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 ), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), 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 ), Jonchère, Laurent

المصدر: Maturitas
Maturitas, Elsevier, 2020, 141, pp.9-19. ⟨10.1016/j.maturitas.2020.06.004⟩
Maturitas, 2020, 141, pp.9-19. ⟨10.1016/j.maturitas.2020.06.004⟩

مصطلحات موضوعية: endocrine system, Candidate gene, Adolescent, [SDV]Life Sciences [q-bio], In silico, Menopause, Premature, Growth Differentiation Factor 9, Receptors, Cytoplasmic and Nuclear, Cell Cycle Proteins, Genomics, [SDV.GEN] Life Sciences [q-bio]/Genetics, Karyopherins, Primary Ovarian Insufficiency, Premature ovarian insufficiency, General Biochemistry, Genetics and Molecular Biology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Humans, Medicine, Female infertility, Ovarian Diseases, 030212 general & internal medicine, FANCM, Ovarian Reserve, Gene, Exome sequencing, Genetics, [SDV.GEN]Life Sciences [q-bio]/Genetics, 030219 obstetrics & reproductive medicine, business.industry, Genetic heterogeneity, Microfilament Proteins, DNA Helicases, Obstetrics and Gynecology, Nuclear Receptor Interacting Protein 1, 3. Good health, [SDV] Life Sciences [q-bio], Female, business, Infertility, Female

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::622e30699bff66250c355fb4297e04d0
https://doi.org/10.1016/j.maturitas.2020.06.004

المؤلفون: Trevor L Cameron, Katrina M Bell, Irma L Gresshoff, Lisa Sampurno, Lorna Mullan, Joerg Ermann, Laurie H Glimcher, Raymond P Boot-Handford, John F Bateman

المصدر: PLoS Genetics, Vol 11, Iss 9, p e1005505 (2015)

مصطلحات موضوعية: Genetics, QH426-470

Relation: http://europepmc.org/articles/PMC4651170?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404; https://doaj.org/article/041eedcd119540089142ffa6690becbb

الاتاحة: https://doi.org/10.1371/journal.pgen.1005505
https://doaj.org/article/041eedcd119540089142ffa6690becbb

المؤلفون: David A. Anderson, Michael Cheung, David A. Elliott, Andrew G. Elefanty, Anthony J. White, Alicia Oshlack, James E. Hudson, Kathy Koutsis, Katrina M. Bell, Enzo R. Porrello, Edouard G. Stanley, Deevina Arasaratnam, Charbel Abi Khalil, Choon Boon Sim, Elizabeth L. Qian

المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-7 (2019)
Scientific Reports

مصطلحات موضوعية: Mesoderm, Cellular differentiation, Human Embryonic Stem Cells, Gene regulatory network, lcsh:Medicine, Biology, Article, Cell Line, 03 medical and health sciences, Gene Knockout Techniques, 0302 clinical medicine, microRNA, medicine, Myocyte, Humans, Gene Regulatory Networks, Myocytes, Cardiac, lcsh:Science, Transcription factor, 030304 developmental biology, 0303 health sciences, Multidisciplinary, Heart development, Stem Cells, lcsh:R, Cell Differentiation, Embryonic stem cell, Publisher Correction, Cell biology, MicroRNAs, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Differentiation, embryonic structures, Homeobox Protein Nkx-2.5, cardiovascular system, RNA, lcsh:Q, Transcriptome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54533f99d17d927aea7394ebabd199e3
http://link.springer.com/article/10.1038/s41598-019-52280-9

المؤلفون: Andrew H. Sinclair, Ross A. D. Bathgate, Muneer Abas Malik, Katrina M. Bell, Katie L. Ayers, Gorjana Robevska, Rakesh Kumar, Shoni Bruell

المصدر: Journal of Medical Genetics. 56:727-733

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, Genitourinary system, HEK 293 cells, Biology, medicine.disease_cause, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, medicine, Missense mutation, Human genome, Receptor, Gene, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::db19a38dd81010cf8b9209e7aa9a7c34
https://doi.org/10.1136/jmedgenet-2019-106203

المؤلفون: Elizabeth A. Crider, Tatiana E. Bustos, Katrina M. Bell, Kara L. Beck, Mario Alfaro, Megan M. Grzybowski, Veronica A. Kassab, Allyn E. Richards, Miya L. Barnett, Suchita R. Saxena, Ignacio D. Acevedo-Polakovich, Kaley S. J. Boress, Lizette Ojeda, Stacy Stout

المصدر: Journal of Latinx Psychology. 7:137-153

مصطلحات موضوعية: Latinos latinas, Adolescent fathers, Injury prevention, Key (cryptography), Human factors and ergonomics, Poison control, Criminology, Psychology, Suicide prevention, Occupational safety and health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::70ca54f10daef926e783d53a6277fd2f
https://doi.org/10.1037/lat0000111

المؤلفون: Solène Duros, Bénédicte Nouyou, Rajini Sreenivasan, Sultana M.H. Faradz, Jocelyn van den Bergen, Andrew H. Sinclair, Shabnam Bakhshalizadeh, Jérôme Dulon, Elena J. Tucker, Linda Akloul, Wilfrid Carré, Katrina M. Bell, Nurin Aisyiyah Listyasari, Mathilde Domin-Bernhard, Marc-Antoine Belaud-Rotureau, Sylvie Jaillard, Gorjana Robevska, Katie L. Ayers, Philippe Touraine

المساهمون: Murdoch Children's Research Institute (MCRI), University of Melbourne, Centre des Pathologies gynécologiques Rares [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Pontchaillou [Rennes], Institut de recherche en santé, environnement et travail (Irset), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), École des Hautes Études en Santé Publique [EHESP] (EHESP), NHMRC programNational Health and Medical Research Council of Australia [1074258], NHMRC fellowshipsNational Health and Medical Research Council of Australia [1054432, 1126995, 1062854], Melbourne Research Scholarship, Victorian Government's Operational Infrastructure Support Program, CHU Rennes grant, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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 )

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00977-9⟩
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00977-9⟩
Eur J Hum Genet

مصطلحات موضوعية: Infertility, Cohesin complex, In silico, [SDV]Life Sciences [q-bio], Cell Cycle Proteins, Primary Ovarian Insufficiency, Biology, Premature ovarian insufficiency, Article, Chromosomes, Mice, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Genetics, medicine, Animals, Humans, Gene, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, 030219 obstetrics & reproductive medicine, MCM8, DNA Helicases, medicine.disease, Phenotype, 3. Good health, DNA-Binding Proteins, Meiosis, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7c820d7b00ae04b398ebe50f7f0e3dc
https://hal.archives-ouvertes.fr/hal-03439473

المؤلفون: Sandra Whalen, Juliette Dupont, Sandrine Vuillaumier-Barrot, Chloe Hanna, Gorjana Robevska, Phillipa J. Lamont, Lurdes Sampaio, John Christodoulou, Rocio Rius, Elena J. Tucker, André Travessa, Jocelyn van den Bergen, Andrew H. Sinclair, Arnaud Isapof, Katrina M. Bell, Andrea Simpson, Jérôme Dulon, Sylvie Jaillard, Tanya Stojkovic, Susana Quijano-Roy, David R. Thorburn, Katie L. Ayers, Philippe Touraine

المساهمون: Murdoch Children's Research Institute (MCRI), University of Melbourne, CHU Pontchaillou [Rennes], 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 ), Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Filière Neuromusculaire (FILNEMUS), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), National Health and Medical Research Council (NHMRC)National Health and Medical Research Council of Australia [1113531], NHMRCNational Health and Medical Research Council of Australia [1074258, 1054432, 1062854, 1155244], CONACYTConsejo Nacional de Ciencia y Tecnologia (CONACyT), Victorian Government's Operational Infrastructure Support Program, Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-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 )

المصدر: Human Genetics
Human Genetics, 2020, 139 (10), pp.1325-1343. ⟨10.1007/s00439-020-02176-w⟩
Human Genetics, Springer Verlag, 2020, 139 (10), pp.1325-1343. ⟨10.1007/s00439-020-02176-w⟩

مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, Mitochondrial translation, Hearing Loss, Sensorineural, [SDV]Life Sciences [q-bio], Gene Expression, Biology, DNA, Mitochondrial, Amino Acyl-tRNA Synthetases, Mitochondrial Proteins, 03 medical and health sciences, Peroxisomal disorder, Genetics, medicine, Peroxisomes, Farnesyltranstransferase, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, 030305 genetics & heredity, Ovary, High-Throughput Nucleotide Sequencing, Geranyltranstransferase, Endopeptidase Clp, TFAM, medicine.disease, Dimethylallyltranstransferase, Human genetics, Premature ovarian failure, Gonadal Dysgenesis, 46,XX, Pedigree, DNA-Binding Proteins, Protein prenylation, ATPases Associated with Diverse Cellular Activities, Female, PEX6, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c24b1eaa8ecc2ffcfe237546d81b48c2
https://univ-rennes.hal.science/hal-02796991

المؤلفون: Trevor L Cameron, Katrina M Bell, Liliana Tatarczuch, Eleanor J Mackie, M Helen Rajpar, Ben T McDermott, Raymond P Boot-Handford, John F Bateman

المصدر: PLoS ONE, Vol 6, Iss 9, p e24600 (2011)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC3174197?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/f14e4edc89bb4cd0851d1139fa726847

الاتاحة: https://doi.org/10.1371/journal.pone.0024600
https://doaj.org/article/f14e4edc89bb4cd0851d1139fa726847