المؤلفون: Mette Hansen Viuff, Claus Gravholt

المصدر: Viuff, M & Gravholt, C H 2022, ' Turner Syndrome and Fertility ', Annales d'Endocrinologie, vol. 83, no. 4, pp. 244-249 . https://doi.org/10.1016/j.ando.2022.06.001

مصطلحات موضوعية: Cryopreservation, Turner Syndrome/complications, Endocrinology, Diabetes and Metabolism, Fertility Preservation, Turner Syndrome, Primary Ovarian Insufficiency/genetics, General Medicine, Primary Ovarian Insufficiency, Fertility, Endocrinology, Pregnancy, Infertility, Quality of Life, Humans, Female, Infertility/complications, Fertility Preservation/adverse effects

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ecdd6607eb846148f7b78304dbb10b2
https://doi.org/10.1016/j.ando.2022.06.001

المؤلفون: Maja Franić-Ivanišević, Damir Franić, Miomira Ivović, Milina Tančić-Gajić, Ljiljana Marina, Marija Barac, Svetlana Vujović

المصدر: Acta Clinica Croatica, Vol 55., Iss 4., Pp 629-635 (2016)

مصطلحات موضوعية: Primary ovarian insufficiency – etiology, Primary ovarian insufficiency – genetics, Medicine

وصف الملف: electronic resource

Relation: https://hrcak.srce.hr/file/262436; https://doaj.org/toc/0353-9466; https://doaj.org/toc/1333-9451

URL الوصول: https://doaj.org/article/615aeb23c1d3423b937341bc5d9cee2b

المؤلفون: Norling, Ameli

مصطلحات موضوعية: 46, XY Disorders of Sex Development -- diagnosis, 46, XY Disorders of Sex Development -- genetics, 46, XX Disorders of Sex Development -- x diagnosis, 46, XX Disorders of Sex Development -- genetics, Gonadal Dysgenesis, 46,XY -- diagnosis, Gonadal Dysgenesis, 46,XY -- genetics, Primary Ovarian Insufficiency -- diagnosis, Primary Ovarian Insufficiency -- genetics, Mutation -- genetics, Genetic Association Studies

Degree: Diss. (sammanfattning) Stockholm : Karolinska Institutet, 2014

المؤلفون: Sébastien Chénier, Pierre Miron, Véronique Blais, Senem Ates, Moncef Benkhalifa, Christine Flageole, Chirine Toufaily, Daniel J. Bernard

المساهمون: Centre d'aide médicale à la procréation FERTILYS [Laval], McGill University = Université McGill [Montréal, Canada], Université de Sherbrooke (UdeS), Université de Picardie Jules Verne (UPJV), Institut Armand Frappier (INRS-IAF), Institut National de la Recherche Scientifique [Québec] (INRS)-Réseau International des Instituts Pasteur (RIIP), DJB was supported by operating grants from Canadian Institutes of Health Research (CIHR) (MOP-133557 and -123447) and Natural Sciences and Engineering Research Council of Canada NSERC (2015-05178)., We would like to thank the personnel of FERTILYS, the Division of Medical Genetics, Centre hospitalier universitaire de Sherbrooke, and the McGill Centre for Research in Reproduction and Development. We also thank Cook Medical and its representative, Benoît Quezel, who kindly provided the IVM follicle aspiration needle. We finally want to thank Dr. Étienne Audet-Walsh for his help and his critical reading of the manuscript

المصدر: Journal of Assisted Reproduction and Genetics
Journal of Assisted Reproduction and Genetics, Springer Verlag, 2019, 36 (3), pp.425-432. ⟨10.1007/s10815-018-1394-z⟩

مصطلحات موضوعية: Anti-Mullerian Hormone, 0301 basic medicine, MESH: Signal Transduction, medicine.medical_treatment, Primary Ovarian Insufficiency, MESH: Oocytes/pathology, 0302 clinical medicine, MESH: Cricetulus, MESH: Oocytes/growth & development, MESH: Animals, Genetics (clinical), 030219 obstetrics & reproductive medicine, Ovarian resistance, Obstetrics and Gynecology, General Medicine, 16. Peace & justice, 3. Good health, medicine.anatomical_structure, Hormone receptor, MESH: Primary Ovarian Insufficiency/pathology, Receptors, FSH, MESH: Live Birth, Female, FSH receptor, Live Birth, Signal Transduction, Adult, Infertility, medicine.medical_specialty, endocrine system, Follicle-stimulating hormone (FSH), MESH: Primary Ovarian Insufficiency/genetics, Ovary, CHO Cells, 03 medical and health sciences, Cricetulus, Hypergonadotropic hypogonadism, MESH: CHO Cells, Internal medicine, medicine, Genetics, Animals, Humans, MESH: Anti-Mullerian Hormone/blood, In vitro fertilisation, MESH: Humans, MESH: In Vitro Oocyte Maturation Techniques, business.industry, MESH: Adult, In vitro maturation (IVM), Antral follicle, medicine.disease, In Vitro Oocyte Maturation Techniques, In vitro maturation, 030104 developmental biology, Endocrinology, Reproductive Medicine, MESH: Follicle Stimulating Hormone/genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Oocytes, Commentary, MESH: Follicle Stimulating Hormone/blood, Follicle Stimulating Hormone, Follicle-stimulating hormone receptor, business, MESH: Primary Ovarian Insufficiency/blood, MESH: Receptors, FSH/genetics, MESH: Female, Gonadotropins, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1813fd599c5cd2f124e8892a2f56e3b2
https://hal-riip.archives-ouvertes.fr/pasteur-02133280

المؤلفون: Anne De Paepe, Patricia Delbeke, Nina Øyen, Françoise Meire, Astrid S. Plomp, Louise C. Wilson, Gabriele Gillessen-Kaesbach, Bart P. Leroy, David Mowat, Jill Clayton-Smith, Yvonne M.C. Hendriks, Nicole Van Regemorter, Philippe Touraine, Virginia Kimonis, Christian Decock, Diane Beysen, Luitgard M. Neumann, Paul Laissue, Dagmar Wieczorek, Kathleen A. Leppig, Arthur Grix, Sarah De Jaegere, Philippe Bouchard, Marc Fellous, Regina Ensenauer, Thomy de Ravel, Sophie Christin-Maitre, David T. Miller, Elfride De Baere, Rachel Laframboise, David J. Amor, Friedrich Ebinger, Raoul C.M. Hennekam, Reiner A. Veitia, Dalit Barel

المساهمون: Clinical sciences, Medical Genetics, Netherlands Institute for Neuroscience (NIN), Amsterdam Neuroscience, Amsterdam Public Health, Paediatric Genetics, Human Genetics

المصدر: Human Mutation, 29, E205-E219. Wiley-Liss Inc.
Human mutation, 29(11), E205-E219. Wiley-Liss Inc.

مصطلحات موضوعية: Adult, Forkhead Box Protein L2, Male, Adolescent, Child, preschool, Genotype, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Locus (genetics), Biology, Blepharophimosis, Primary Ovarian Insufficiency, Frameshift mutation, Genetics, medicine, Missense mutation, Humans, Amino Acid Sequence, Forkhead Transcription Factors/genetics, Child, Frameshift Mutation, Eyelids/abnormalities, Genetics (clinical), Infant, Newborn, Eyelids, Infant, Forkhead Transcription Factors, Primary Ovarian Insufficiency/genetics, Middle Aged, medicine.disease, Pedigree, Forkhead box L2, Phenotype, Codon, Nonsense, young adult, Female, Sequence Alignment, Blepharophimosis/genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f00005bf4f0e4849b0f91842af9384af
https://doi.org/10.1002/humu.20819

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Kalantaridou, S. N., Calis, K. A., Vanderhoof, V. H., Bakalov, V. K., Corrigan, E. C., Troendle, J. F., Nelson, L. M.

مصطلحات موضوعية: Cross-Sectional Studies, Primary Ovarian Insufficiency/*genetics/*metabolism, Testosterone/*blood/*deficiency/genetics, Gonadal Dysgenesis, Mixed/*genetics/*metabolism, Humans, Female, Chromosomes, Human, X/*genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_____10561::04a452b4b36d029d898c5819f01be7c1
http://olympias.lib.uoi.gr/jspui/handle/123456789/24682

المؤلفون: Kalantaridou, S. N., Chrousos, G. P.

مصطلحات موضوعية: Male, Hypogonadism/genetics/metabolism, Ovarian Diseases/*genetics, Aromatase/metabolism, Luteinizing Hormone/genetics/physiology, Mutation, Humans, Puberty, Precocious/genetics, Female, Primary Ovarian Insufficiency/genetics, Puberty, Delayed/genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_____10561::78580e52b5f700b658d11f02d09fdff1
http://olympias.lib.uoi.gr/jspui/handle/123456789/19968

المؤلفون: Bondy, C. A., Nelson, L. M., Kalantaridou, S. N.

مصطلحات موضوعية: Adult, Mice, Oocytes/*physiology, X Chromosome/*genetics, Gene Expression Regulation, Ovarian Follicle/*physiology, Stem Cell Factor/genetics, Animals, Humans, Proteins/genetics/physiology, Autoimmunity, Female, Primary Ovarian Insufficiency/*genetics/physiopathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_____10561::dc8d8ac36a05defc31efa62110389f02
http://olympias.lib.uoi.gr/jspui/handle/123456789/24469

المصدر: Nature

مصطلحات الفهرس: Adult, Aging/genetics, Alleles, Animals, Bone and Bones/metabolism, Checkpoint Kinase 1/genetics, Checkpoint Kinase 2/genetics, Diabetes Mellitus, Type 2, Diet, Europe/ethnology, Far East/ethnology, Female, Fertility/genetics, Fragile X Mental Retardation Protein/genetics, Genetic Predisposition to Disease, Genome-Wide Association Study, Healthy Aging/genetics, Humans, Longevity/genetics, Menopause/genetics, Menopause, Premature/genetics, Mice, Mice, Inbred C57BL, Middle Aged, Ovary/metabolism, Primary Ovarian Insufficiency/genetics, Uterus, Contribution to Journal

URL: https://rdcu.be/cAH1Q
http://purl.org/au-research/grants/nhmrc/613674
http://purl.org/au-research/grants/nhmrc/1075175
http://purl.org/au-research/grants/nhmrc/389892
https://rdcu.be/cAH1Q
doi:10.1038/s41586-021-03779-7
Ruth, Katherine S, Day, Felix R, Hussain, Jazib, Martínez-Marchal, Ana, Aiken, Catherine E, Azad, Ajuna, Thompson, Deborah J, Knoblochova, Lucie, Abe, Hironori, Tarry-Adkins, Jane L, Gonzalez, Javier Martin, Fontanillas, Pierre, Claringbould, Annique, Bakker, Olivier B, Sulem, Patrick, Walters, Robin G, Terao, Chikashi, Turon, Sandra, Horikoshi, Momoko, Lin, Kuang, Onland-Moret, N Charlotte, Sankar, Aditya, Hertz, Emil Peter Thrane, Timshel, Pascal N, Shukla, Vallari, Borup, Rehannah, Olsen, Kristina W, Aguilera, Paula, Ferrer-Roda, Mònica, Huang, Yan, Stankovic, Stasa, Timmers, Paul R H J, Ahearn, Thomas U, Alizadeh, Behrooz Z, Naderi, Elnaz, Andrulis, Irene L, Arnold, Alice M, Aronson, Kristan J, Augustinsson, Annelie, Bandinelli, Stefania, Barbieri, Caterina M, Beaumont, Robin N, Becher, Heiko, Beckmann, Matthias W, Benonisdottir, Stefania, Bergmann, Sven, Bochud, Murielle, Boerwinkle, Eric, Bojesen, Stig E, Bolla, Manjeet K, Boomsma, Dorret I, Bowker, Nicholas, Brody, Jennifer A, Broer, Linda, Buring, Julie E, Campbell, Archie, Campbell, Harry, Castelao, Jose E, Catamo, Eulalia, Chanock, Stephen J, Chenevix-Trench, Georgia, Ciullo, Marina, Corre, Tanguy, Couch, Fergus J, Cox, Angela, Crisponi, Laura, Cross, Simon S, Cucca, Francesco, Czene, Kamila, Smith, George Davey, de Geus, Eco J C N, de Mutsert, Renée, De Vivo, Immaculata, Demerath, Ellen W, Dennis, Joe, Dunning, Alison M, Dwek, Miriam, Eriksson, Mikael, Esko, Tõnu, Fasching, Peter A, Faul, Jessica D, Ferrucci, Luigi, Franceschini, Nora, Frayling, Timothy M, Gago-Dominguez, Manuela, Mezzavilla, Massimo, García-Closas, Montserrat, Gieger, Christian, Giles, Graham G, Grallert, Harald, Gudbjartsson, Daniel F, Gudnason, Vilmundur, Guénel, Pascal, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hayward, Caroline, He, Chunyan, He, Wei, Heiss, Gerardo, Høffding, Miya K, Hopper, John L, Hottenga, Jouke J, Hu, Frank, Hunter, David, Ikram, Mohammad A, Jackson, Rebecca D, Joaquim, Micaella D R, John, Esther M, Jo
http://purl.org/au-research/grants/nhmrc/613674
http://purl.org/au-research/grants/nhmrc/1075175
http://purl.org/au-research/grants/nhmrc/389892