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Waardenburg syndrome: Novel mutations in a large Brazilian sample.
Bocángel MAP, Melo US, Alves LU, Pardono E, Lourenço NCV, Marcolino HVC, Otto PA, Mingroni-Netto RC. Bocángel MAP, et al. Among authors: otto pa. Eur J Med Genet. 2018 Jun;61(6):348-354. doi: 10.1016/j.ejmg.2018.01.012. Epub 2018 Jan 31. Eur J Med Genet. 2018. PMID: 29407415 Free article.
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.
Waardenburg syndrome: clinical differentiation between types I and II.
Pardono E, van Bever Y, van den Ende J, Havrenne PC, Iughetti P, Maestrelli SR, Costa F O, Richieri-Costa A, Frota-Pessoa O, Otto PA. Pardono E, et al. Among authors: otto pa. Am J Med Genet A. 2003 Mar 15;117A(3):223-35. doi: 10.1002/ajmg.a.10193. Am J Med Genet A. 2003. PMID: 12599185
Santos syndrome is caused by mutation in the WNT7A gene.
Alves LU, Santos S, Musso CM, Ezquina SA, Opitz JM, Kok F, Otto PA, Mingroni-Netto RC. Alves LU, et al. Among authors: otto pa. J Hum Genet. 2017 Dec;62(12):1073-1078. doi: 10.1038/jhg.2017.86. Epub 2017 Aug 31. J Hum Genet. 2017. PMID: 28855715
Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women.
Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Pavanello Filho I, Zanforlin Filho S, Kim CA, Bagnoli VR, Mendonça BB, Szuhai K, Otto PA. Cheroki C, et al. Among authors: otto pa. Am J Med Genet A. 2006 Jun 15;140(12):1339-42. doi: 10.1002/ajmg.a.31254. Am J Med Genet A. 2006. PMID: 16691591 No abstract available.
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.
114 results