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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 2
2007 1
2009 2
2012 1
2013 1
2014 1
2017 3
2018 4
2019 8
2020 2
2021 2
2022 5
2024 0

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PubMed (Bookshelf cited) for id: 78602

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Page 1
Genetics of 46,XY gonadal dysgenesis.
Elzaiat M, McElreavey K, Bashamboo A. Elzaiat M, et al. Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101633. doi: 10.1016/j.beem.2022.101633. Epub 2022 Feb 25. Best Pract Res Clin Endocrinol Metab. 2022. PMID: 35249806 Review.
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
Gomes NL, Batista RL, Nishi MY, Lerário AM, Silva TE, de Moraes Narcizo A, Benedetti AFF, de Assis Funari MF, Faria Junior JA, Moraes DR, Quintão LML, Montenegro LR, Ferrari MTM, Jorge AA, Arnhold IJP, Costa EMF, Domenice S, Mendonca BB. Gomes NL, et al. J Clin Endocrinol Metab. 2022 Apr 19;107(5):e1797-e1806. doi: 10.1210/clinem/dgac064. J Clin Endocrinol Metab. 2022. PMID: 35134971
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
Garnai SJ, Brinkmeier ML, Emery B, Aleman TS, Pyle LC, Veleva-Rotse B, Sisk RA, Rozsa FW, Ozel AB, Li JZ, Moroi SE, Archer SM, Lin CM, Sheskey S, Wiinikka-Buesser L, Eadie J, Urquhart JE, Black GCM, Othman MI, Boehnke M, Sullivan SA, Skuta GL, Pawar HS, Katz AE, Huryn LA, Hufnagel RB; Genomic Ascertainment Cohort; Camper SA, Richards JE, Prasov L. Garnai SJ, et al. PLoS Genet. 2019 May 2;15(5):e1008130. doi: 10.1371/journal.pgen.1008130. eCollection 2019 May. PLoS Genet. 2019. PMID: 31048900 Free PMC article.
29 results