Kirwin SM - Search Results

1

Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics.

Cook KJ, Duong BQ, Seligson ND, Arn P, Funanage VL, Gripp KW, Kirwin SM, Lawless ST, Lee MM, Robbins KM, West D, Blake KV. Cook KJ, et al. Among authors: kirwin sm. Clin Pharmacol Ther. 2021 Sep;110(3):555-558. doi: 10.1002/cpt.2328. Epub 2021 Jul 13. Clin Pharmacol Ther. 2021. PMID: 34254671 No abstract available.

2

Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic.

Kirwin SM, Robbins KM, Vinette KMB, Hirata L, Gripp KW, Funanage VL. Kirwin SM, et al. Dela J Public Health. 2021 Dec 15;7(5):24-27. doi: 10.32481/djph.2021.12.008. eCollection 2021 Dec. Dela J Public Health. 2021. PMID: 35619972 Free PMC article.

3

Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation.

Kirwin SM, Vinette KM, Schwartz SB, Funanage VL, Gonzalez IL. Kirwin SM, et al. Fertil Steril. 2007 Apr;87(4):976.e5-7. doi: 10.1016/j.fertnstert.2006.07.1543. Epub 2007 Jan 22. Fertil Steril. 2007. PMID: 17241629 Free article.

4

A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.

Kirwin SM, Vinette KM, Gonzalez IL, Abdulwahed HA, Al-Sannaa N, Funanage VL. Kirwin SM, et al. Mol Genet Genomic Med. 2013 Jul;1(2):113-7. doi: 10.1002/mgg3.10. Epub 2013 May 30. Mol Genet Genomic Med. 2013. PMID: 24498607 Free PMC article.

5

A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.

Hurd L, Kirwin SM, Boggs M, Mackenzie WG, Bober MB, Funanage VL, Duncan RL. Hurd L, et al. Among authors: kirwin sm. Am J Med Genet A. 2015 Oct;167A(10):2286-93. doi: 10.1002/ajmg.a.37182. Epub 2015 Aug 6. Am J Med Genet A. 2015. PMID: 26249260

6

Leptin enhances lung maturity in the fetal rat.

Kirwin SM, Bhandari V, Dimatteo D, Barone C, Johnson L, Paul S, Spitzer AR, Chander A, Hassink SG, Funanage VL. Kirwin SM, et al. Pediatr Res. 2006 Aug;60(2):200-4. doi: 10.1203/01.pdr.0000227478.29271.52. Pediatr Res. 2006. PMID: 16864704

7

Recombinant human Clara cell secretory protein treatment increases lung mRNA expression of surfactant proteins and vascular endothelial growth factor in a premature lamb model of respiratory distress syndrome.

Wolfson MR, Funanage VL, Kirwin SM, Pilon AL, Shashikant BN, Miller TL, Shaffer TH. Wolfson MR, et al. Among authors: kirwin sm. Am J Perinatol. 2008 Nov;25(10):637-45. doi: 10.1055/s-0028-1090587. Epub 2008 Oct 7. Am J Perinatol. 2008. PMID: 18841530

8

Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.

Lenherr-Taube N, Young EJ, Furman M, Elia Y, Assor E, Chitayat D, Uster T, Kirwin S, Robbins K, Vinette KMB, Daneman A, Marshall CR, Collins C, Thummel K, Sochett E, Levine MA. Lenherr-Taube N, et al. J Clin Endocrinol Metab. 2021 Sep 27;106(10):2915-2937. doi: 10.1210/clinem/dgab431. J Clin Endocrinol Metab. 2021. PMID: 34125233 Free PMC article.

9

Immaturity or starvation? Longitudinal study of leptin levels in premature infants.

Spear ML, Hassink SG, Leef K, O'Connor DM, Kirwin SM, Locke R, Gorman R, Funanage VL. Spear ML, et al. Among authors: kirwin sm. Biol Neonate. 2001 Jul;80(1):35-40. doi: 10.1159/000047117. Biol Neonate. 2001. PMID: 11474147

10

Tafazzin splice variants and mutations in Barth syndrome.

Kirwin SM, Manolakos A, Barnett SS, Gonzalez IL. Kirwin SM, et al. Mol Genet Metab. 2014 Jan;111(1):26-32. doi: 10.1016/j.ymgme.2013.11.006. Epub 2013 Nov 19. Mol Genet Metab. 2014. PMID: 24342716

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