DeWard S - Search Results

1

Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review.

Vockley J, Marsden D, McCracken E, DeWard S, Barone A, Hsu K, Kakkis E. Vockley J, et al. Among authors: deward s. Mol Genet Metab. 2015 Sep-Oct;116(1-2):53-60. doi: 10.1016/j.ymgme.2015.06.006. Epub 2015 Jun 18. Mol Genet Metab. 2015. PMID: 26116311 Free PMC article. Review.

2

Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.

Gillingham MB, Heitner SB, Martin J, Rose S, Goldstein A, El-Gharbawy AH, Deward S, Lasarev MR, Pollaro J, DeLany JP, Burchill LJ, Goodpaster B, Shoemaker J, Matern D, Harding CO, Vockley J. Gillingham MB, et al. Among authors: deward s. J Inherit Metab Dis. 2017 Nov;40(6):831-843. doi: 10.1007/s10545-017-0085-8. Epub 2017 Sep 4. J Inherit Metab Dis. 2017. PMID: 28871440 Free PMC article. Clinical Trial.

3

Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures.

Belachew D, Kazmerski T, Libman I, Goldstein AC, Stevens ST, Deward S, Vockley J, Sperling MA, Balest AL. Belachew D, et al. Among authors: deward s. JIMD Rep. 2013;11:17-24. doi: 10.1007/8904_2013_217. Epub 2013 Mar 12. JIMD Rep. 2013. PMID: 23479201 Free PMC article.

4

Practical aspects of recruitment and retention in clinical trials of rare genetic diseases: the phenylketonuria (PKU) experience.

DeWard SJ, Wilson A, Bausell H, Volz AS, Mooney K. DeWard SJ, et al. J Genet Couns. 2014 Feb;23(1):20-8. doi: 10.1007/s10897-013-9642-y. Epub 2013 Sep 8. J Genet Couns. 2014. PMID: 24014152

5

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.

Liao J, DeWard SJ, Madan-Khetarpal S, Surti U, Hu J. Liao J, et al. Among authors: deward sj. Am J Med Genet A. 2011 Nov;155A(11):2795-800. doi: 10.1002/ajmg.a.34237. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990074

6

Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.

Hu J, Madan-Khetarpal S, Serrano Russi AH, Kochmar S, Deward SJ, Sathanoori M, Surti U. Hu J, et al. Among authors: deward sj. Genet Res Int. 2011;2011:185271. doi: 10.4061/2011/185271. Epub 2011 Jul 17. Genet Res Int. 2011. PMID: 22567345 Free PMC article.

7

CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.

Slavotinek A, Kaylor J, Pierce H, Cahr M, DeWard SJ, Schneidman-Duhovny D, Alsadah A, Salem F, Schmajuk G, Mehta L. Slavotinek A, et al. Among authors: deward sj. Am J Hum Genet. 2015 Jan 8;96(1):162-9. doi: 10.1016/j.ajhg.2014.11.013. Epub 2014 Dec 31. Am J Hum Genet. 2015. PMID: 25557780 Free PMC article.

8

Array CGH as a first-tier test for neonates with congenital heart disease.

Bachman KK, DeWard SJ, Chrysostomou C, Munoz R, Madan-Khetarpal S. Bachman KK, et al. Among authors: deward sj. Cardiol Young. 2015 Jan;25(1):115-22. doi: 10.1017/S1047951113001868. Epub 2013 Nov 6. Cardiol Young. 2015. PMID: 24192140

9

Expansion of phenotype and genotypic data in CRB2-related syndrome.

Lamont RE, Tan WH, Innes AM, Parboosingh JS, Schneidman-Duhovny D, Rajkovic A, Pappas J, Altschwager P, DeWard S, Fulton A, Gray KJ, Krall M, Mehta L, Rodan LH, Saller DN Jr, Steele D, Stein D, Yatsenko SA, Bernier FP, Slavotinek AM. Lamont RE, et al. Among authors: deward s. Eur J Hum Genet. 2016 Oct;24(10):1436-44. doi: 10.1038/ejhg.2016.24. Epub 2016 Mar 23. Eur J Hum Genet. 2016. PMID: 27004616 Free PMC article. Review.

10

Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.

Vivero M, Cho MT, Begtrup A, Wentzensen IM, Walsh L, Payne K, Zarate YA, Bosanko K, Schaefer GB, DeBrosse S, Pollack L, Mason K, Retterer K, DeWard S, Juusola J, Chung WK. Vivero M, et al. Among authors: deward s. Clin Genet. 2017 Jun;91(6):929-931. doi: 10.1111/cge.12899. Epub 2017 Jan 30. Clin Genet. 2017. PMID: 28133733 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

12 results

Search Page