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1دورية أكاديمية
المؤلفون: Thomson, E., Tran, M., Robevska, G., Ayers, K., van der Bergen, J., Bhaskaran, P.G., Haan, E., Cereghini, S., Vash-Margita, A., Margetts, M., Hensley, A., Nguyen, Q., Sinclair, A., Koopman, P., Pelosi, E.
مصطلحات موضوعية: Mullerian Ducts, Animals, Humans, Mice, Genomics, Cell Differentiation, Female, Hepatocyte Nuclear Factor 1-beta, XX Disorders of Sex Development
الوقت: 46
وصف الملف: application/pdf
العلاقة: NHMRC; Human Molecular Genetics, 2023; 32(6); https://hdl.handle.net/2440/137538Test; Haan, E. [0000-0002-7310-5124]
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2دورية أكاديمية
المؤلفون: Bakhshalizadeh, S, Hock, DHH, Siddall, NAA, Kline, BLL, Sreenivasan, R, Bell, KMM, Casagranda, F, Kamalanathan, S, Sahoo, J, Narayanan, N, Naik, D, Suryadevara, V, Compton, AGG, Amarasekera, SSC, Kapoor, R, Jaillard, S, Simpson, A, Robevska, G, van den Bergen, J, Pachernegg, S, Ayers, KLL, Thorburn, DRR, Stroud, DAA, Hime, GRR, Sinclair, AHH, Tucker, EJJ
العلاقة: NHMRC/1140906; NHMRC/2009732; pii: 10.1007/s00439-023-02563-z; Bakhshalizadeh, S., Hock, D. H. H., Siddall, N. A. A., Kline, B. L. L., Sreenivasan, R., Bell, K. M. M., Casagranda, F., Kamalanathan, S., Sahoo, J., Narayanan, N., Naik, D., Suryadevara, V., Compton, A. G. G., Amarasekera, S. S. C., Kapoor, R., Jaillard, S., Simpson, A., Robevska, G., van den Bergen, J. ,. Tucker, E. J. J. (2023). Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency. HUMAN GENETICS, 142 (7), pp.879-907. https://doi.org/10.1007/s00439-023-02563-zTest.; http://hdl.handle.net/11343/332306Test
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3دورية أكاديميةWhole exome sequencing reveals copy number variants in individuals with disorders of sex development
المؤلفون: Sreenivasan, R, Bell, K, van den Bergen, J, Robevska, G, Belluoccio, D, Dahiya, R, Leong, GM, Dulon, J, Touraine, P, Tucker, EJ, Ayers, K, Sinclair, A
العلاقة: pii: S0303-7207(22)00017-X; Sreenivasan, R., Bell, K., van den Bergen, J., Robevska, G., Belluoccio, D., Dahiya, R., Leong, G. M., Dulon, J., Touraine, P., Tucker, E. J., Ayers, K. & Sinclair, A. (2022). Whole exome sequencing reveals copy number variants in individuals with disorders of sex development. MOLECULAR AND CELLULAR ENDOCRINOLOGY, 546, https://doi.org/10.1016/j.mce.2022.111570Test.; http://hdl.handle.net/11343/310195Test
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4دورية أكاديمية
المؤلفون: Kline, BL, Jaillard, S, Bell, KM, Bakhshalizadeh, S, Robevska, G, van den Bergen, J, Dulon, J, Ayers, KL, Christodoulou, J, Tchan, MC, Touraine, P, Sinclair, AH, Tucker, EJ
العلاقة: pii: genes13112113; Kline, B. L., Jaillard, S., Bell, K. M., Bakhshalizadeh, S., Robevska, G., van den Bergen, J., Dulon, J., Ayers, K. L., Christodoulou, J., Tchan, M. C., Touraine, P., Sinclair, A. H. & Tucker, E. J. (2022). Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency. GENES, 13 (11), https://doi.org/10.3390/genes13112113Test.; http://hdl.handle.net/11343/335379Test
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5دورية أكاديمية
المؤلفون: Tucker, EJ, Gutfreund, N, Belaud-Rotureau, M-A, Gilot, D, Brun, T, Kline, BL, Bell, KM, Domin-Bernhard, M, Theard, C, Touraine, P, Robevska, G, van van den Bergen, J, Ayers, KL, Sinclair, AH, Doetsch, V, Jaillard, S
العلاقة: Tucker, E. J., Gutfreund, N., Belaud-Rotureau, M. -A., Gilot, D., Brun, T., Kline, B. L., Bell, K. M., Domin-Bernhard, M., Theard, C., Touraine, P., Robevska, G., van van den Bergen, J., Ayers, K. L., Sinclair, A. H., Doetsch, V. & Jaillard, S. (2022). Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency. HUMAN MUTATION, 43 (10), pp.1443-1453. https://doi.org/10.1002/humu.24432Test.; http://hdl.handle.net/11343/335735Test
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6دورية أكاديمية
المؤلفون: Listyasari, NA, Robevska, G, Ayers, KL, Tan, TY, Sinclair, AH, Faradz, SMH
العلاقة: pii: S2214-3882(22)00007-8; Listyasari, N. A., Robevska, G., Ayers, K. L., Tan, T. Y., Sinclair, A. H. & Faradz, S. M. H. (2022). Clinical lesson learned from genetic analysis in patients prior to surgical repair of hypospadias. ASIAN JOURNAL OF UROLOGY, 9 (2), pp.186-189. https://doi.org/10.1016/j.ajur.2022.02.006Test.; http://hdl.handle.net/11343/310391Test
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7دورية أكاديمية
المؤلفون: Tucker, EJ, Baker, MJ, Hock, DH, Warren, JT, Jaillard, S, Bell, KM, Sreenivasan, R, Bakhshalizadeh, S, Hanna, CA, Caruana, NJ, Wortmann, SB, Rahman, S, Pitceathly, RDS, Donadieu, J, Alimi, A, Launay, V, Coppo, P, Christin-Maitre, S, Robevska, G, van den Bergen, J, Kline, BL, Ayers, KL, Stewart, PN, Stroud, DA, Stojanovski, D, Sinclair, AH
العلاقة: NHMRC/1140906; NHMRC/2009732; pii: 6694194; Tucker, E. J., Baker, M. J., Hock, D. H., Warren, J. T., Jaillard, S., Bell, K. M., Sreenivasan, R., Bakhshalizadeh, S., Hanna, C. A., Caruana, N. J., Wortmann, S. B., Rahman, S., Pitceathly, R. D. S., Donadieu, J., Alimi, A., Launay, V., Coppo, P., Christin-Maitre, S., Robevska, G. ,. Sinclair, A. H. (2022). Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 107 (12), pp.3328-3340. https://doi.org/10.1210/clinem/dgac528Test.; http://hdl.handle.net/11343/320287Test
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8دورية أكاديمية
المؤلفون: Listyasari, NA, Juniarto, AZ, Robevska, G, Ayers, KL, Sinclair, AH, Faradz, SMH
العلاقة: Listyasari, N. A., Juniarto, A. Z., Robevska, G., Ayers, K. L., Sinclair, A. H. & Faradz, S. M. H. (2021). Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients. EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 22 (1), https://doi.org/10.1186/s43042-021-00134-3Test.; http://hdl.handle.net/11343/273976Test
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9دورية أكاديمية
المؤلفون: Bagheri-Fam, S, Chen, H, Wilson, S, Ayers, K, Hughes, J, Sloan-Bena, F, Calvel, P, Robevska, G, Puisac, B, Kusz-Zamelczyk, K, Gimelli, S, Spik, A, Jaruzelska, J, Warenik-Szymankiewicz, A, Farad, S, Nef, S, Pié, J, Thomas, P, Sinclair, A, Wilhelm, D.
وصف الملف: application/pdf
العلاقة: info:eu-repo/grantAgreement/ES/DGA/B32-17R; http://zaguan.unizar.es/record/87839Test
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10دورية أكاديمية
المؤلفون: Jaillard, Sylvie, Sreenivasan, R., Beaumont, M., Robevska, G., Dubourg, C., Knarston, I.M., Akloul, L., van den Bergen, J., Odent, S., Croft, B., Jouve, G., Grover, S.R., Duros, S., Pimentel, C., Belaud-Rotureau, Marc-Antoine, Ayers, K.L., Ravel, Célia, Tucker, E.J., Sinclair, A.H.
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, Murdoch Children's Research Institute (MCRI), University of Melbourne, Chung Hua University, CHUNational Health and Medical Research Council, NHMRC
المصدر: ISSN: 0378-5122 ; Maturitas ; https://univ-rennes.hal.science/hal-02399813Test ; Maturitas, 2020, 131, pp.78-86. ⟨10.1016/j.maturitas.2019.10.011⟩.
مصطلحات موضوعية: NR5A1, Premature ovarian insufficiency, Whole-exome sequencing, Diminished ovarian reserve, [SDV]Life Sciences [q-bio]
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31787151; hal-02399813; https://univ-rennes.hal.science/hal-02399813Test; https://univ-rennes.hal.science/hal-02399813/documentTest; https://univ-rennes.hal.science/hal-02399813/file/S0378512219305249.pdfTest; PII: S0378-5122(19)30524-9; PUBMED: 31787151
الإتاحة: https://doi.org/10.1016/j.maturitas.2019.10.011Test
https://univ-rennes.hal.science/hal-02399813Test
https://univ-rennes.hal.science/hal-02399813/documentTest
https://univ-rennes.hal.science/hal-02399813/file/S0378512219305249.pdfTest
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