المؤلفون: Domenice, S., Corrêa, R.V., Costa, E.M.F., Nishi, M.Y., Vilain, E., Arnhold, I.J.P., Mendonca, B.B.

المصدر: Brazilian Journal of Medical and Biological Research. January 2004 37(1)

مصطلحات موضوعية: Sex reversal, SRY gene, DAX1 gene, SF1 gene, WNT4 gene

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000100020Test

المؤلفون: Correa, F.A., Trarbach, E.B., Tusset, C., Latronico, A.C., Montenegro, L.R., Carvalho, L.R., Franca, M.M., Otto, A.P., Costalonga, E.F., Brito, V.N., Abreu, A.P., Nishi, M.Y., Jorge, A.A., Arnhold, I.J., Sidis, Y., Pitteloud, N., Mendonca, B.B.

المصدر: Endocrine Connections, vol. 4, no. 2, pp. 100-107

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25759380; info:eu-repo/semantics/altIdentifier/eissn/2049-3614; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_4C5F67BEEDF11; https://serval.unil.ch/notice/serval:BIB_4C5F67BEEDF1Test; urn:issn:2049-3614; https://serval.unil.ch/resource/serval:BIB_4C5F67BEEDF1.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4C5F67BEEDF11Test

الإتاحة: https://doi.org/10.1530/EC-15-0015Test
https://serval.unil.ch/notice/serval:BIB_4C5F67BEEDF1Test
https://serval.unil.ch/resource/serval:BIB_4C5F67BEEDF1.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4C5F67BEEDF11Test

المؤلفون: Ferrari M.T.M. (11271798), Watanabe A. (11271801), daSilva T.E. (11271804), Gomes N.L. (11271807), Batista R.L. (11271810), Nishi M.Y. (4135168), dePaula L.C.P. (11271813), Costa E.C. (11271816), Costa E.M.F. (11271819), Cukier P. (4141333), Onuchic L.F. (3105045), Mendonca B.B. (4135165), Domenice S. (11271822)

مصطلحات موضوعية: Medicine, 46,XX testicular/ovarian-testicular DSD, Denys-Drash syndrome, Frasier syndrome, Primary ovarian insufficiency, Renal failure, Wilms’ tumor 1 (WT1) gene

العلاقة: https://figshare.com/articles/dataset/Supplementary_Material_for_WT1_Pathogenic_Variants_are_Associated_with_a_Broad_Spectrum_of_Differences_in_Sex_Development_Phenotypes_and_Heterogeneous_Progression_of_Renal_Disease/15163590Test

الإتاحة: https://doi.org/10.6084/m9.figshare.15163590.v1Test

المؤلفون: Nishi M.Y. (4135168), FariaJúnior J.A.D. (11417210), Krepischi A.C.V. (4580890), deMoraes D.R. (11417213), daCosta S.S. (11417216), Silva E.S.N. (11417219), Costa E.M.F. (11271819), Mendonca B.B. (4135165), Domenice S. (11271822)

مصطلحات موضوعية: Medicine, Array-CGH, Copy number variation, Difference of sex development, Gonadal dysgenesis, NR0B1/DAX1, Supernumerary X chromosome marker

العلاقة: https://figshare.com/articles/dataset/Supplementary_Material_for_A_Small_Supernumerary_Xp_Marker_Chromosome_Including_Genes_b_i_NR0B1_i_b_and_b_i_MAGEB_i_b_Causing_Partial_Gonadal_Dysgenesis_and_Gonadoblastoma/16601189Test

الإتاحة: https://doi.org/10.6084/m9.figshare.16601189.v1Test

المؤلفون: Da Silva, T.E., Gomes, N.L., Lerario, A.M., Keegan, C.E., Nishi, M.Y., Carvalho, F.M., Vilain, E., Barseghyan, H., Martínez Aguayo, Alejandro Gregorio, Forclaz, M.V., Papazian, R., De Paula, L.C.P., Costa, E.C., Carvalho, L.R., Lima Jorge, A.A., Martins Elias, F., Mitchell, R., Frade Costa, E.M., Bilharinho Mendonca, B., Domenice, S.

وصف الملف: 12 páginas; application/pdf

العلاقة: https://doi.org/10.1210/jc.2019-00984Test; https://repositorio.uc.cl/handle/11534/48567Test

الإتاحة: https://doi.org/10.1210/jc.2019-00984Test
https://repositorio.uc.cl/handle/11534/48567Test

المؤلفون: França, M.m., Funari, M.F.A., Nishi, M.Y., Narcizo, A.M., Domenice, S., Costa, E.M.F., Lerario, A.M., Mendonca, B.B.

مصطلحات موضوعية: targeted massively parallel sequencing, GDF9, female infertility, primary ovarian insufficiency, Genetics, Health Sciences

وصف الملف: application/pdf

العلاقة: França, M.m.; Funari, M.F.A.; Nishi, M.Y.; Narcizo, A.M.; Domenice, S.; Costa, E.M.F.; Lerario, A.M.; Mendonca, B.B. (2018). "Identification of the first homozygous 1‐bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing." Clinical Genetics 93(2): 408-411.; https://hdl.handle.net/2027.42/141610Test; Clinical Genetics; Tucker EJ, Grover SR, Bachelot A, Touraine P, Sinclair AH. Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum. Endocr Rev. 2016; 37 ( 6 ): 609 – 635.; Richards S, Aziz N, Bale S, et al. ACMG Laboratory Quality Assurance Committee: standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17 ( 5 ): 405 – 424.; França MM, Lerario AM, Funari MFA, et al. A novel homozygous missense FSHR variant associated with hypergonadotropic hypogonadism in two siblings from a Brazilian family. Sex Dev. 2017; 11 ( 3 ): 137 – 142.; Shelling AN. Premature ovarian failure. Reproduction. 2010; 140: 633 – 641.; Kovanci E, Rohozinski J, Simpson JL, et al. Growth differentiating factor‐9 mutations may be associated with premature ovarian failure. Fertil Steril. 2007; 87 ( 1 ): 143 – 146.; Laissue P, Christian‐Maitre S, Touraine P, et al. Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. Eur J Endocrinol. 2006; 154 ( 5 ): 739 – 744.; Dixit H, Rao LK, Padmalatha V, et al. Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure. Menopause. 2005; 12: 749 – 754.; Rossetti R, Ferrari I, Bonomi M, Persani L. Genetics of primary ovarian insufficiency. Clin Genet. 2017; 91 ( 2 ): 183 – 198.; Hanrahan JP, Gregan SM, Mulsant P, et al. Mutations in the genes for oocyte derived growth factors GDF9 and BMP15 are associated with both increased ovulation rate and sterility in Cambridge and Belclare sheep ( Ovis aries ). Biol Reprod. 2004; 70: 900 – 909.; Otsuka F, McTavish KJ, Shimasaki S. Integral role of GDF‐9 and BMP‐15 in ovarian function. Mol Reprod Dev. 2011; 78 ( 1 ): 9 – 21.; Carabatsos MJ, Elvin J, Matzuk MM, Albertini DF. Characterization of oocyte and follicle development in growth differentiation factor‐9‐deficient mice. Dev Biol. 1998; 204 ( 2 ): 373 – 384.; Dong J, Albertini DF, Nishimori K, Kumar TR, Lu N, Matzuk MM. Growth differentiation factor‐9 is required during early ovarian folliculogenesis. Nature. 1996; 383 ( 6600 ): 531 – 535.; Elvin JA, Yan C, Matzuk MM. Oocyte‐expressed TGF‐beta superfamily members in female fertility. Mol Cell Endocrinol. 2000; 159 ( 1–2 ): 1 – 5.; Chang H, Brown CW, Matzuk MM. Genetic analysis of the mammalian TGF‐β superfamily. Endocr Rev. 2002; 23: 787 – 823.; Naslavsky MS, Yamamoto GL, de Almeida TF, et al. Exomic variants of an elderly cohort of Brazilians in the ABraOM database. Hum Mutat. 2017; 38 ( 7 ): 751 – 763.

الإتاحة: https://doi.org/10.1111/cge.13156Test
https://hdl.handle.net/2027.42/141610Test

المؤلفون: França, M.M., Funari, M.F.A., Nishi, M.Y., Narcizo, A.M., Domenice, S., Costa, E.M.F., Lerario, A.M., Mendonca, B.B.

المساهمون: Fundação de Amparo à Pesquisa do Estado de São Paulo, Conselho Nacional de Desenvolvimento Científico e Tecnológico

المصدر: Clinical Genetics ; volume 93, issue 2, page 408-411 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.13156Test