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A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes.
Ferreira IR, Costa RA, Gomes LHF, Dos Santos Cunha WD, Tyszler LS, Freitas S, Llerena Junior JC, de Vasconcelos ZFM, Nicholls RD, Guida LDC. Ferreira IR, et al. Among authors: llerena junior jc. Sci Rep. 2020 Aug 3;10(1):13026. doi: 10.1038/s41598-020-69750-0. Sci Rep. 2020. PMID: 32747801 Free PMC article.
Fetal Skeletal Lethal Dysplasia: Case Report.
Savoldi AM, Villar MAM, Machado HN, Llerena Júnior JC. Savoldi AM, et al. Among authors: llerena junior jc. Rev Bras Ginecol Obstet. 2017 Oct;39(10):576-582. doi: 10.1055/s-0037-1603943. Epub 2017 Aug 7. Rev Bras Ginecol Obstet. 2017. PMID: 28783850 Free PMC article. Review.
Peters' plus syndrome.
de Almeida JC, Llerena Júnior JC. de Almeida JC, et al. Among authors: llerena junior jc. Am J Med Genet. 1993 Aug 1;47(1):125. doi: 10.1002/ajmg.1320470129. Am J Med Genet. 1993. PMID: 8368243 No abstract available.
C syndrome and omphalocele: another example.
de Almeida JC, Llerena Júnior JC, Alonso MR, Vargas FR. de Almeida JC, et al. Among authors: llerena junior jc. Am J Med Genet. 1992 Oct 1;44(3):385. doi: 10.1002/ajmg.1320440324. Am J Med Genet. 1992. PMID: 1362631 No abstract available.
Another example favouring the location of BPES at 3q2.
de Almeida JC, Llerena Júnior JC, Gonçalves Neto JB, Jung M, Martins RR. de Almeida JC, et al. Among authors: llerena junior jc. J Med Genet. 1993 Jan;30(1):86. doi: 10.1136/jmg.30.1.86. J Med Genet. 1993. PMID: 8481195 Free PMC article. No abstract available.
21 results