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Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.
Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, Holden JJ, Yang KT, Lee C, Hudson R, Gorwill H, Nolin SL, Glicksman A, Jenkins EC, Brown WT, Howard-Peebles PN, Becchi C, Cummings E, Fallon L, Seitz S, Black SH, Vianna-Morgante AM, Costa SS, Otto PA, Mingroni-Netto RC, Murray A, Webb J, Vieri F, et al. Allingham-Hawkins DJ, et al. Among authors: otto pa. Am J Med Genet. 1999 Apr 2;83(4):322-5. Am J Med Genet. 1999. PMID: 10208170 Free PMC article.
Notes on the population genetics of fragile X syndrome.
Vianna-Morgante AM, Otto PA. Vianna-Morgante AM, et al. Among authors: otto pa. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):339-44. doi: 10.1002/ajmg.1320430152. Am J Med Genet. 1992. PMID: 1605208
FRAXF in a patient with chromosome 8 duplication.
Vianna-Morgante AM, Mingroni-Netto RC, Barbosa AC, Otto PA, Rosenberg C. Vianna-Morgante AM, et al. Among authors: otto pa. J Med Genet. 1996 Jul;33(7):611-4. doi: 10.1136/jmg.33.7.611. J Med Genet. 1996. PMID: 8818952 Free PMC article.
Encomium: Oswaldo Frota-Pessoa.
Vianna-Morgante AM, Azevêdo ES, Otto PA, Opitz JM. Vianna-Morgante AM, et al. Among authors: otto pa. Am J Med Genet. 1996 Jun 28;63(4):581-4. doi: 10.1002/(SICI)1096-8628(19960628)63:4<581::AID-AJMG12>3.0.CO;2-E. Am J Med Genet. 1996. PMID: 8826438 No abstract available.
Chromosome imbalances in syndromic hearing loss.
Catelani AL, Krepischi AC, Kim CA, Kok F, Otto PA, Auricchio MT, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith A Jr, Vianna-Morgante AM, Mingroni-Netto RC, Rosenberg C. Catelani AL, et al. Among authors: otto pa. Clin Genet. 2009 Nov;76(5):458-64. doi: 10.1111/j.1399-0004.2009.01276.x. Epub 2009 Oct 6. Clin Genet. 2009. PMID: 19807740
Novel frameshift variant in gene SALL4 causing Okihiro syndrome.
Alves LU, Perez AB, Alonso LG, Otto PA, Mingroni-Netto RC. Alves LU, et al. Among authors: otto pa. Eur J Med Genet. 2016 Feb;59(2):80-5. doi: 10.1016/j.ejmg.2015.12.015. Epub 2016 Jan 11. Eur J Med Genet. 2016. PMID: 26791099 Free article.
114 results