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Year | Number of Results |
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2018 | 1 |
2019 | 3 |
2020 | 1 |
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Page 1
Mitochondrial Dysfunction in Primary Ovarian Insufficiency.
Endocrinology. 2019 Oct 1;160(10):2353-2366. doi: 10.1210/en.2019-00441.
Endocrinology. 2019.
PMID: 31393557
Free PMC article.
Review.
Adipocyte-specific deletion of zinc finger protein 407 results in lipodystrophy and insulin resistance in mice.
Charrier A, Xu X, Guan BJ, Ngo J, Wynshaw-Boris A, Hatzoglou M, Buchner DA.
Charrier A, et al.
Mol Cell Endocrinol. 2021 Feb 5;521:111109. doi: 10.1016/j.mce.2020.111109. Epub 2020 Dec 4.
Mol Cell Endocrinol. 2021.
PMID: 33285243
Free PMC article.
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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA.
Tiosano D, et al.
PLoS Genet. 2019 Apr 29;15(4):e1008088. doi: 10.1371/journal.pgen.1008088. eCollection 2019 Apr.
PLoS Genet. 2019.
PMID: 31034465
Free PMC article.
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Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Akdemir ZC, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, Buchner DA.
Chen A, et al.
Hum Mol Genet. 2018 Jun 1;27(11):1913-1926. doi: 10.1093/hmg/ddy098.
Hum Mol Genet. 2018.
PMID: 29566152
Free PMC article.
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Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome.
Cohen M, Persky R, Stegemann R, Hernández-Ramírez LC, Zeltser D, Lodish MB, Chen A, Keil MF, Tatsi C, Faucz FR, Buchner DA, Stratakis CA, Tiosano D.
Cohen M, et al.
J Clin Endocrinol Metab. 2019 Oct 1;104(10):4676-4682. doi: 10.1210/jc.2019-00697.
J Clin Endocrinol Metab. 2019.
PMID: 31162547
Free PMC article.
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