Anastasio N - Search Results

1

Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis.

Sentell ZT, Nurcombe ZW, Mougharbel L, Anastasio N, Rivière JB, Babayeva S, Goodyer PR, Torban E, Kitzler TM. Sentell ZT, et al. Among authors: anastasio n. Eur J Hum Genet. 2024 Sep;32(9):1184-1189. doi: 10.1038/s41431-024-01668-x. Epub 2024 Jul 10. Eur J Hum Genet. 2024. PMID: 38987663

2

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

Lerner-Ellis JP, Anastasio N, Liu J, Coelho D, Suormala T, Stucki M, Loewy AD, Gurd S, Grundberg E, Morel CF, Watkins D, Baumgartner MR, Pastinen T, Rosenblatt DS, Fowler B. Lerner-Ellis JP, et al. Among authors: anastasio n. Hum Mutat. 2009 Jul;30(7):1072-81. doi: 10.1002/humu.21001. Hum Mutat. 2009. PMID: 19370762

3

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. 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.

4

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: anastasio n. 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

5

Lessons on the value of long term follow-up from genetic counselling of a family with severe autosomal recessive congenital ichthyosis.

El Helou J, Perry TB, Anastasio N, Holbrook KA, Rosenblatt DS. El Helou J, et al. Among authors: anastasio n. Mol Genet Metab. 2022 Apr;135(4):309-310. doi: 10.1016/j.ymgme.2022.02.004. Epub 2022 Feb 18. Mol Genet Metab. 2022. PMID: 35216886 No abstract available.

6

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes.

Anastasio N, Tarailo-Graovac M, Al-Khalifah R, Legault L, Drogemoller B, Ross CJ, Wasserman WW, van Karnebeek C, Buhas D. Anastasio N, et al. JIMD Rep. 2017;31:57-62. doi: 10.1007/8904_2016_557. Epub 2016 Apr 14. JIMD Rep. 2017. PMID: 27074787 Free PMC article.

7

Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.

Loewy AD, Niles KM, Anastasio N, Watkins D, Lavoie J, Lerner-Ellis JP, Pastinen T, Trasler JM, Rosenblatt DS. Loewy AD, et al. Among authors: anastasio n. Mol Genet Metab. 2009 Apr;96(4):261-7. doi: 10.1016/j.ymgme.2008.12.011. Epub 2009 Feb 5. Mol Genet Metab. 2009. PMID: 19200761

8

Author Correction: AI is a viable alternative to high throughput screening: a 318-target study.

Atomwise AIMS Program. Atomwise AIMS Program. Sci Rep. 2024 Sep 16;14(1):21579. doi: 10.1038/s41598-024-70321-w. Sci Rep. 2024. PMID: 39284864 Free PMC article. No abstract available.

9

AI is a viable alternative to high throughput screening: a 318-target study.

Atomwise AIMS Program. Atomwise AIMS Program. Sci Rep. 2024 Apr 2;14(1):7526. doi: 10.1038/s41598-024-54655-z. Sci Rep. 2024. PMID: 38565852 Free PMC article.

10

μ-opioid receptor agonists and psychedelics: pharmacological opportunities and challenges.

Salinsky LM, Merritt CR, Zamora JC, Giacomini JL, Anastasio NC, Cunningham KA. Salinsky LM, et al. Among authors: anastasio nc. Front Pharmacol. 2023 Oct 11;14:1239159. doi: 10.3389/fphar.2023.1239159. eCollection 2023. Front Pharmacol. 2023. PMID: 37886127 Free PMC article. Review.

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