Northrup H - Search Results

1

The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report.

Frigeni M, Rodriguez-Buritica DF, Saavedra H, Gunther KA, Hillman PR, Balaguru D, Northrup H. Frigeni M, et al. Among authors: northrup h. Am J Med Genet A. 2021 Nov;185(11):3510-3516. doi: 10.1002/ajmg.a.62469. Epub 2021 Sep 2. Am J Med Genet A. 2021. PMID: 34472180

2

Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.

Soler-Alfonso C, Enns GM, Koenig MK, Saavedra H, Bonfante-Mejia E, Northrup H. Soler-Alfonso C, et al. Among authors: northrup h. Pediatr Neurol. 2015 Mar;52(3):361-5. doi: 10.1016/j.pediatrneurol.2014.10.023. Epub 2014 Nov 7. Pediatr Neurol. 2015. PMID: 25591832

3

KIAA2022 nonsense mutation in a symptomatic female.

Farach LS, Northrup H. Farach LS, et al. Among authors: northrup h. Am J Med Genet A. 2016 Mar;170(3):703-6. doi: 10.1002/ajmg.a.37479. Epub 2015 Nov 17. Am J Med Genet A. 2016. PMID: 26576034

4

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.

Farach LS, Gibson WT, Sparagana SP, Nellist M, Stumpel CT, Hietala M, Friedman E, Pearson DA, Creighton SP, Wagemans A, Segel R, Ben-Shalom E, Au KS, Northrup H. Farach LS, et al. Among authors: northrup h. Am J Med Genet A. 2017 Mar;173(3):771-775. doi: 10.1002/ajmg.a.38083. Am J Med Genet A. 2017. PMID: 28211972 Review.

5

Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

Aggarwal A, Rodriguez-Buritica DF, Northrup H. Aggarwal A, et al. Among authors: northrup h. Eur J Med Genet. 2017 Jun;60(6):285-288. doi: 10.1016/j.ejmg.2017.03.006. Epub 2017 Mar 27. Eur J Med Genet. 2017. PMID: 28359930 Review.

6

Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned.

Au KS, Findley TO, Northrup H. Au KS, et al. Among authors: northrup h. Am J Med Genet A. 2017 Nov;173(11):3042-3057. doi: 10.1002/ajmg.a.38478. Epub 2017 Sep 25. Am J Med Genet A. 2017. PMID: 28944587 Free PMC article. Review.

7

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks.

Hillman P, Baker C, Hebert L, Brown M, Hixson J, Ashley-Koch A, Morrison AC, Northrup H, Au KS. Hillman P, et al. Among authors: northrup h. Mol Genet Genomic Med. 2020 Nov;8(11):e1495. doi: 10.1002/mgg3.1495. Epub 2020 Sep 22. Mol Genet Genomic Med. 2020. PMID: 32960507 Free PMC article.

8

Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients.

Hebert L, Hillman P, Baker C, Brown M, Ashley-Koch A, Hixson JE, Morrison AC, Northrup H, Au KS. Hebert L, et al. Among authors: northrup h. PLoS One. 2020 Sep 24;15(9):e0239083. doi: 10.1371/journal.pone.0239083. eCollection 2020. PLoS One. 2020. PMID: 32970752 Free PMC article.

9

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.

Au KS, Hebert L, Hillman P, Baker C, Brown MR, Kim DK, Soldano K, Garrett M, Ashley-Koch A, Lee S, Gleeson J, Hixson JE, Morrison AC, Northrup H. Au KS, et al. Among authors: northrup h. Sci Rep. 2021 Feb 11;11(1):3639. doi: 10.1038/s41598-021-83058-7. Sci Rep. 2021. PMID: 33574475 Free PMC article.

10

Hypoglycemia in mitochondrial disorders.

Ashfaq M, Moats AR, Northrup H, Singletary CN, Hashmi SS, Koenig MK, Bagg MB, Rodriguez-Buritica D. Ashfaq M, et al. Among authors: northrup h. Mitochondrion. 2021 May;58:179-183. doi: 10.1016/j.mito.2021.03.002. Epub 2021 Mar 16. Mitochondrion. 2021. PMID: 33737013

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