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Results: 1 to 20 of 36

1.

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.

Mol Genet Genomic Med. 2013 Jul;1(2):113-7. doi: 10.1002/mgg3.10. Epub 2013 May 30.

PMID:
24498607
[PubMed]
Free PMC Article
2.

Changes in circulating satiety hormones in obese children: a randomized controlled physical activity-based intervention study.

Balagopal PB, Gidding SS, Buckloh LM, Yarandi HN, Sylvester JE, George DE, Funanage VL.

Obesity (Silver Spring). 2010 Sep;18(9):1747-53. doi: 10.1038/oby.2009.498. Epub 2010 Jan 21.

PMID:
20094040
[PubMed - indexed for MEDLINE]
3.

Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independent.

Wu CY, Gómez-Curet I, Funanage VL, Scavina M, Wang W.

BMC Cell Biol. 2009 May 16;10:40. doi: 10.1186/1471-2121-10-40.

PMID:
19445707
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

Am J Perinatol. 2008 Nov;25(10):637-45. doi: 10.1055/s-0028-1090587. Epub 2008 Oct 7.

PMID:
18841530
[PubMed - indexed for MEDLINE]
5.

Robust quantification of the SMN gene copy number by real-time TaqMan PCR.

Gómez-Curet I, Robinson KG, Funanage VL, Crawford TO, Scavina M, Wang W.

Neurogenetics. 2007 Nov;8(4):271-8. Epub 2007 Jul 24. Erratum in: Neurogenetics. 2009 Apr;10(2):171-2.

PMID:
17647030
[PubMed - indexed for MEDLINE]
6.

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.

Fertil Steril. 2007 Apr;87(4):976.e5-7. Epub 2007 Jan 22.

PMID:
17241629
[PubMed - indexed for MEDLINE]
7.

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.

Pediatr Res. 2006 Aug;60(2):200-4.

PMID:
16864704
[PubMed - indexed for MEDLINE]
8.

3-methylglutaconic aciduria disorders: the clinical spectrum increases.

Arn P, Funanage VL.

J Pediatr Hematol Oncol. 2006 Feb;28(2):62-3. No abstract available.

PMID:
16462574
[PubMed - indexed for MEDLINE]
9.

Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death.

Wang W, Dimatteo D, Funanage VL, Scavina M.

Mol Genet Metab. 2005 May;85(1):38-45. Epub 2005 Feb 16.

PMID:
15862279
[PubMed - indexed for MEDLINE]
10.

Leptin and estradiol as related to change in pubertal status and body weight.

Larmore KA, O'Connor D, Sherman TI, Funanage VL, Hassink SG, Klein KO.

Med Sci Monit. 2002 Mar;8(3):CR206-10.

PMID:
11889458
[PubMed - indexed for MEDLINE]
11.

Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy.

Frisch R, Singleton KR, Moses PA, Gonzalez IL, Carango P, Marks HG, Funanage VL.

Mol Genet Metab. 2001 Sep-Oct;74(1-2):281-91.

PMID:
11592825
[PubMed - indexed for MEDLINE]
12.

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.

Biol Neonate. 2001 Jul;80(1):35-40.

PMID:
11474147
[PubMed - indexed for MEDLINE]
13.

Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease.

Hobson GM, Davis AP, Stowell NC, Kolodny EH, Sistermans EA, de Coo IF, Funanage VL, Marks HG.

Neurology. 2000 Oct 24;55(8):1089-96.

PMID:
11071483
[PubMed - indexed for MEDLINE]
14.

Glucocorticoids decrease interleukin-6 levels and induce mineralization of cultured osteogenic cells from children with fibrous dysplasia.

Stanton RP, Hobson GM, Montgomery BE, Moses PA, Smith-Kirwin SM, Funanage VL.

J Bone Miner Res. 1999 Jul;14(7):1104-14.

PMID:
10404010
[PubMed - indexed for MEDLINE]
15.

Developmental expression of creatine kinase isoenzymes in chicken growth cartilage.

Hobson GM, Funanage VL, Elsemore J, Yagami M, Rajpurohit R, Perriard JC, Hickok NJ, Shapiro IM, Tuan RS.

J Bone Miner Res. 1999 May;14(5):747-56.

PMID:
10320523
[PubMed - indexed for MEDLINE]
16.

Leptin expression in human mammary epithelial cells and breast milk.

Smith-Kirwin SM, O'Connor DM, De Johnston J, Lancey ED, Hassink SG, Funanage VL.

J Clin Endocrinol Metab. 1998 May;83(5):1810-3.

PMID:
9589698
[PubMed - indexed for MEDLINE]
17.

Mutation characterization and genotype-phenotype correlation in Barth syndrome.

Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R.

Am J Hum Genet. 1997 Nov;61(5):1053-8.

PMID:
9345098
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Placental leptin: an important new growth factor in intrauterine and neonatal development?

Hassink SG, de Lancey E, Sheslow DV, Smith-Kirwin SM, O'Connor DM, Considine RV, Opentanova I, Dostal K, Spear ML, Leef K, Ash M, Spitzer AR, Funanage VL.

Pediatrics. 1997 Jul;100(1):E1.

PMID:
9200375
[PubMed - indexed for MEDLINE]
19.

Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28.

Iyer GS, Krahe R, Goodwin LA, Doggett NA, Siciliano MJ, Funanage VL, Proujansky R.

Genomics. 1996 May 15;34(1):143-6.

PMID:
8661037
[PubMed - indexed for MEDLINE]
20.

Regional chromosomal assignments for four members of the MADS domain transcription enhancer factor 2 (MEF2) gene family to human chromosomes 15q26, 19p12, 5q14, and 1q12-q23.

Hobson GM, Krahe R, Garcia E, Siciliano MJ, Funanage VL.

Genomics. 1995 Oct 10;29(3):704-11.

PMID:
8575763
[PubMed - indexed for MEDLINE]

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