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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: begemann m. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
Genetic and epigenetic findings in Silver-Russell syndrome.
Eggermann T, Begemann M, Spengler S, Schröder C, Kordass U, Binder G. Eggermann T, et al. Among authors: begemann m. Pediatr Endocrinol Rev. 2010 Dec;8(2):86-93. Pediatr Endocrinol Rev. 2010. PMID: 21150838 Review.
Silver-Russell syndrome.
Binder G, Begemann M, Eggermann T, Kannenberg K. Binder G, et al. Among authors: begemann m. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):153-60. doi: 10.1016/j.beem.2010.06.005. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396582
Epigenetic and genetic diagnosis of Silver-Russell syndrome.
Eggermann T, Spengler S, Gogiel M, Begemann M, Elbracht M. Eggermann T, et al. Among authors: begemann m. Expert Rev Mol Diagn. 2012 Jun;12(5):459-71. doi: 10.1586/erm.12.43. Expert Rev Mol Diagn. 2012. PMID: 22702363 Review.
265 results