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Identification of the first homozygous 1‐bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing
dc.contributor.authorFrança, M.m.
dc.contributor.authorFunari, M.F.A.
dc.contributor.authorNishi, M.Y.
dc.contributor.authorNarcizo, A.M.
dc.contributor.authorDomenice, S.
dc.contributor.authorCosta, E.M.F.
dc.contributor.authorLerario, A.M.
dc.contributor.authorMendonca, B.B.
dc.date.accessioned2018-02-05T16:37:20Z
dc.date.available2019-04-01T15:01:10Zen
dc.date.issued2018-02
dc.identifier.citationFrança, 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.
dc.identifier.issn0009-9163
dc.identifier.issn1399-0004
dc.identifier.urihttps://hdl.handle.net/2027.42/141610
dc.publisherBlackwell Publishing Ltd
dc.publisherWiley Periodicals, Inc.
dc.subject.othertargeted massively parallel sequencing
dc.subject.otherGDF9
dc.subject.otherfemale infertility
dc.subject.otherprimary ovarian insufficiency
dc.titleIdentification of the first homozygous 1‐bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing
dc.typeArticleen_US
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelGenetics
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/141610/1/cge13156_am.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/141610/2/cge13156.pdf
dc.identifier.doi10.1111/cge.13156
dc.identifier.sourceClinical Genetics
dc.identifier.citedreferenceTucker 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.
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dc.identifier.citedreferenceFrança 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.
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dc.identifier.citedreferenceHanrahan 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.
dc.identifier.citedreferenceOtsuka F, McTavish KJ, Shimasaki S. Integral role of GDF‐9 and BMP‐15 in ovarian function. Mol Reprod Dev. 2011; 78 ( 1 ): 9 – 21.
dc.identifier.citedreferenceCarabatsos 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.
dc.identifier.citedreferenceDong 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.
dc.identifier.citedreferenceElvin JA, Yan C, Matzuk MM. Oocyte‐expressed TGF‐beta superfamily members in female fertility. Mol Cell Endocrinol. 2000; 159 ( 1–2 ): 1 – 5.
dc.identifier.citedreferenceChang H, Brown CW, Matzuk MM. Genetic analysis of the mammalian TGF‐β superfamily. Endocr Rev. 2002; 23: 787 – 823.
dc.identifier.citedreferenceNaslavsky 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.
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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