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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 4
2003 6
2004 2
2005 5
2006 7
2007 4
2008 4
2009 7
2010 4
2011 12
2012 10
2013 12
2014 10
2015 4
2016 9
2017 5
2018 4
2019 2
2020 5
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105 results
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Page 1
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: Rosenblatt DS. Nat Commun. 2018 Jan 4;9(1):67. doi: 10.1038/s41467-017-02306-5. Nat Commun. 2018. PMID: 29302025 Free PMC article.
Allosteric Regulation of Oligomerization by a B12 Trafficking G-Protein Is Corrupted in Methylmalonic Aciduria.
Ruetz M, Campanello GC, McDevitt L, Yokom AL, Yadav PK, Watkins D, Rosenblatt DS, Ohi MD, Southworth DR, Banerjee R. Ruetz M, et al. Among authors: Rosenblatt DS. Cell Chem Biol. 2019 Jul 18;26(7):960-969.e4. doi: 10.1016/j.chembiol.2019.03.014. Epub 2019 May 2. Cell Chem Biol. 2019. PMID: 31056463
A RaDiCAL gene hunt.
Pupavac M, Zawati MH, Rosenblatt DS. Pupavac M, et al. Among authors: Rosenblatt DS. 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.
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.
Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. Anastasio N, et al. Among authors: Rosenblatt DS. Am J Hum Genet. 2010 Oct 8;87(4):553-9. doi: 10.1016/j.ajhg.2010.09.005. Am J Hum Genet. 2010. PMID: 20887961 Free PMC article.
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N. Alfares A, et al. Among authors: Rosenblatt DS. J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230. Epub 2011 Jul 23. J Med Genet. 2011. PMID: 21785126
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
Quintana AM, Yu HC, Brebner A, Pupavac M, Geiger EA, Watson A, Castro VL, Cheung W, Chen SH, Watkins D, Pastinen T, Skovby F, Appel B, Rosenblatt DS, Shaikh TH. Quintana AM, et al. Among authors: Rosenblatt DS. Hum Mol Genet. 2017 Aug 1;26(15):2838-2849. doi: 10.1093/hmg/ddx157. Hum Mol Genet. 2017. PMID: 28449119 Free PMC article.
Sacrificial Cobalt-Carbon Bond Homolysis in Coenzyme B12 as a Cofactor Conservation Strategy.
Campanello GC, Ruetz M, Dodge GJ, Gouda H, Gupta A, Twahir UT, Killian MM, Watkins D, Rosenblatt DS, Brunold TC, Warncke K, Smith JL, Banerjee R. Campanello GC, et al. Among authors: Rosenblatt DS. J Am Chem Soc. 2018 Oct 17;140(41):13205-13208. doi: 10.1021/jacs.8b08659. Epub 2018 Oct 8. J Am Chem Soc. 2018. PMID: 30282455 Free PMC article.
Vitamin B(12) and birth defects.
Li F, Watkins D, Rosenblatt DS. Li F, et al. Among authors: Rosenblatt DS. Mol Genet Metab. 2009 Sep-Oct;98(1-2):166-72. doi: 10.1016/j.ymgme.2009.06.004. Epub 2009 Jun 11. Mol Genet Metab. 2009. PMID: 19586788 Review.
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