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Familial STAG2 germline mutation defines a new human cohesinopathy.
Soardi FC, Machado-Silva A, Linhares ND, Zheng G, Qu Q, Pena HB, Martins TMM, Vieira HGS, Pereira NB, Melo-Minardi RC, Gomes CC, Gomez RS, Gomes DA, Pires DEV, Ascher DB, Yu H, Pena SDJ. Soardi FC, et al. Among authors: pena hb. NPJ Genom Med. 2017 Mar 20;2:7. doi: 10.1038/s41525-017-0009-4. eCollection 2017. NPJ Genom Med. 2017. PMID: 29263825 Free PMC article.
"Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations.
Linhares ND, Freire MCM, Cardenas RGCCL, Pena HB, Bahia M, Pena SDJ. Linhares ND, et al. Among authors: pena hb. Eur J Med Genet. 2018 Feb;61(2):106. doi: 10.1016/j.ejmg.2017.02.002. Epub 2017 Feb 20. Eur J Med Genet. 2018. PMID: 28223207 No abstract available.
DNA polymorphism of schistosomes and their snail hosts.
Simpson AJ, Dias Neto E, Vidigal TH, Pena HB, Carvalho OS, Pena SD. Simpson AJ, et al. Among authors: pena sd, pena hb. Mem Inst Oswaldo Cruz. 1995 Mar-Apr;90(2):211-3. doi: 10.1590/s0074-02761995000200014. Mem Inst Oswaldo Cruz. 1995. PMID: 8531659
25 results