Pena SD - 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 sd, 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

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.

3

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. Among authors: pena sd. 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.

4

Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?

Linhares ND, Freire MC, Cardenas RG, Bahia M, Puzenat E, Aubin F, Pena SD. Linhares ND, et al. Among authors: pena sd. Genet Mol Res. 2014 Aug 15;13(3):6287-92. doi: 10.4238/2014.August.15.11. Genet Mol Res. 2014. PMID: 25158255 Free article.

5

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 sd, 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.

6

"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. 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.

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. 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

Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1.

Linhares ND, Arantes RR, Araujo SA, Pena SDJ. Linhares ND, et al. Clin Kidney J. 2018 Aug;11(4):462-467. doi: 10.1093/ckj/sfx130. Epub 2017 Nov 13. Clin Kidney J. 2018. PMID: 30090628 Free PMC article.

9

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.

Li D, Strong A, Shen KM, Cassiman D, Van Dyck M, Linhares ND, Valadares ER, Wang T, Pena SDJ, Jaeken J, Vergano S, Zackai E, Hing A, Chow P, Ganguly A, Scholz T, Bierhals T, Philipp D, Hakonarson H, Bhoj E. Li D, et al. Among authors: pena sdj. Genet Med. 2021 Apr;23(4):637-644. doi: 10.1038/s41436-020-01031-7. Epub 2020 Nov 27. Genet Med. 2021. PMID: 33244166 Free article.

10

Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing.

Linhares ND, Wilk P, Wątor E, Tostes MA, Weiss MS, Pena SDJ. Linhares ND, et al. Among authors: pena sdj. Genet Mol Biol. 2021 Apr 19;44(2):e20200393. doi: 10.1590/1678-4685-GMB-2020-0393. eCollection 2021. Genet Mol Biol. 2021. PMID: 33877262 Free PMC article.

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