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Year Number of Results
2011 1
2013 1
2014 1
2015 1
2016 5
2017 4
2018 2
2022 1
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15 results
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Page 1
A RaDiCAL gene hunt.
Pupavac M, Zawati MH, Rosenblatt DS. Pupavac M, et al. J Taibah Univ Med Sci. 2017 Jan 19;12(3):194-198. doi: 10.1016/j.jtumed.2016.11.007. eCollection 2017 Jun. J Taibah Univ Med Sci. 2017. PMID: 31435239 Free PMC article. Review.
Genetic testing for BRCA1 and BRCA2 in the Province of Ontario.
Finch A, Wang M, Fine A, Atri L, Khalouei S, Pupavac M, Rosen B, Eisen A, Elser C, Charames G, Metcalfe K, Chang MC, Narod SA, Lerner-Ellis J. Finch A, et al. Among authors: pupavac m. Clin Genet. 2016 Mar;89(3):304-11. doi: 10.1111/cge.12647. Epub 2015 Aug 31. Clin Genet. 2016. PMID: 26219728
Expression of Mmachc and Mmadhc during mouse organogenesis.
Pupavac M, Garcia MA, Rosenblatt DS, Jerome-Majewska LA. Pupavac M, et al. Mol Genet Metab. 2011 Aug;103(4):401-5. doi: 10.1016/j.ymgme.2011.04.004. Epub 2011 Apr 17. Mol Genet Metab. 2011. PMID: 21536470
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS. Guéant JL, et al. Among authors: pupavac m. Nat Commun. 2018 Jan 4;9(1):67. doi: 10.1038/s41467-017-02306-5. Nat Commun. 2018. PMID: 29302025 Free PMC article.
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS. Guéant JL, et al. Among authors: pupavac m. Nat Commun. 2018 Feb 2;9(1):554. doi: 10.1038/s41467-018-03054-w. Nat Commun. 2018. PMID: 29396438 Free PMC article.
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12.
Oussalah A, Siblini Y, Hergalant S, Chéry C, Rouyer P, Cavicchi C, Guerrini R, Morange PE, Trégouët D, Pupavac M, Watkins D, Pastinen T, Chung WK, Ficicioglu C, Feillet F, Froese DS, Baumgartner MR, Benoist JF, Majewski J, Morrone A, Rosenblatt DS, Guéant JL. Oussalah A, et al. Among authors: pupavac m. Clin Epigenetics. 2022 Apr 19;14(1):52. doi: 10.1186/s13148-022-01271-1. Clin Epigenetics. 2022. PMID: 35440018 Free PMC article.
Corrigendum to "Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations." [Mol. Genet. Metab. (Aug 2016); 118(4): 264-71].
Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS. Chu J, et al. Among authors: pupavac m. Mol Genet Metab. 2017 Mar;120(3):295. doi: 10.1016/j.ymgme.2016.11.001. Mol Genet Metab. 2017. PMID: 28284539 No abstract available.
15 results