Pena HB - Search Results

1

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

Linhares ND, Freire MC, Cardenas RG, Pena HB, Lachlan K, Dallapiccola B, Bacino C, Delobel B, James P, Thuresson AC, Annerén G, Pena SD. Linhares ND, et al. Among authors: pena hb. Genet Mol Biol. 2016 Jul-Sep;39(3):349-57. doi: 10.1590/1678-4685-GMB-2016-0049. Epub 2016 Aug 4. Genet Mol Biol. 2016. PMID: 27561113 Free PMC article.

2

Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.

Linhares ND, Freire MC, Cardenas RG, Pena HB, Bahia M, Pena SD. Linhares ND, et al. Among authors: pena hb. Eur J Med Genet. 2014 Nov-Dec;57(11-12):643-8. doi: 10.1016/j.ejmg.2014.08.010. Epub 2014 Sep 18. Eur J Med Genet. 2014. PMID: 25241110 Free article.

3

"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.

4

A multiplex panel of short-amplicon insertion-deletion DNA polymorphisms for forensic analysis.

Santos VR, Pena HB, Pena SD. Santos VR, et al. Among authors: pena hb. Genet Mol Res. 2015 Apr 10;14(2):2947-52. doi: 10.4238/2015.April.10.2. Genet Mol Res. 2015. PMID: 25966056 Free article.

5

Automated Genotyping of a Highly Informative Panel of 40 Short Insertion-Deletion Polymorphisms Resolved in Polyacrylamide Gels for Forensic Identification and Kinship Analysis.

Pena HB, Pena SD. Pena HB, et al. Transfus Med Hemother. 2012 Jun;39(3):211-216. doi: 10.1159/000338854. Epub 2012 May 11. Transfus Med Hemother. 2012. PMID: 22851937 Free PMC article.

6

Relationship of the methylenetetrahydrofolate reductase C677T polymorphism with microsatellite instability and promoter hypermethylation in sporadic colorectal cancer.

Clarizia AD, Bastos-Rodrigues L, Pena HB, Anacleto C, Rossi B, Soares FA, Lopes A, Rocha JC, Caballero O, Camargo A, Simpson AJ, Pena SD. Clarizia AD, et al. Among authors: pena sd, pena hb. Genet Mol Res. 2006 Jun 30;5(2):315-22. Genet Mol Res. 2006. PMID: 16819711 Free article.

7

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.

8

Determination of ancestral proportions in synthetic bovine breeds using commonly employed microsatellite markers.

Bicalho HM, Pimenta CG, Mendes IK, Pena HB, Queiroz EM, Pena SD. Bicalho HM, et al. Among authors: pena sd, pena hb. Genet Mol Res. 2006 Jul 31;5(3):432-7. Genet Mol Res. 2006. PMID: 17117357 Free article.

9

Intracellular promiscuity in Schistosoma mansoni: nuclear transcribed DNA sequences are part of a mitochondrial minisatellite region.

Pena HB, de Souza CP, Simpson AJ, Pena SD. Pena HB, et al. Among authors: pena sd. Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):915-9. doi: 10.1073/pnas.92.3.915. Proc Natl Acad Sci U S A. 1995. PMID: 7846078 Free PMC article.

10

Update of the gene discovery program in Schistosoma mansoni with the expressed sequence tag approach.

Rabelo EM, Franco GR, Azevedo VA, Pena HB, Santos TM, Meira WS, Rodrigues NA, Ortega JM, Pena SD. Rabelo EM, et al. Among authors: pena sd, pena hb. Mem Inst Oswaldo Cruz. 1997 Sep-Oct;92(5):625-9. doi: 10.1590/s0074-02761997000500012. Mem Inst Oswaldo Cruz. 1997. PMID: 9566229 Free article.

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