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Compound heterozygous female with fragile X syndrome.
Linden MG, Tassone F, Gane LW, Hills JL, Hagerman RJ, Taylor AK. Linden MG, et al. Among authors: gane lw. Am J Med Genet. 1999 Apr 2;83(4):318-21. Am J Med Genet. 1999. PMID: 10208169
A girl with fragile X premutation from sperm donation.
Wirojanan J, Angkustsiri K, Tassone F, Gane LW, Hagerman RJ. Wirojanan J, et al. Among authors: gane lw. Am J Med Genet A. 2008 Apr 1;146A(7):888-92. doi: 10.1002/ajmg.a.31876. Am J Med Genet A. 2008. PMID: 18286596
Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development.
Freedenberg DL, Gane LW, Richards CS, Lampe M, Hills J, O'Connor R, Manchester D, Taylor A, Tassone F, Hulseberg D, Hagerman RJ, Patil SR. Freedenberg DL, et al. Among authors: gane lw. Am J Med Genet. 1999 Jul 30;85(3):197-201. doi: 10.1002/(sici)1096-8628(19990730)85:3<197::aid-ajmg1>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10398226
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.
Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, Hagerman PJ. Hagerman RJ, et al. Among authors: gane lw. Am J Hum Genet. 2004 May;74(5):1051-6. doi: 10.1086/420700. Epub 2004 Apr 2. Am J Hum Genet. 2004. PMID: 15065016 Free PMC article.
40 results