Sarasua SM - Search Results

1

Evaluating User Experience and DNA Yield from Self-Collection Devices.

Blommel JH, Roforth MM, Jerde CR, Karsten CA, Bridgeman AR, Voss JS, Boccuto L, Ivankovic DS, Sarasua SM, Kipp BR, Murphy SJ. Blommel JH, et al. Among authors: sarasua sm. J Appl Lab Med. 2024 Jul 1;9(4):704-715. doi: 10.1093/jalm/jfae030. J Appl Lab Med. 2024. PMID: 38767175

2

Letter to the editor regarding Disciglio et al.: interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.

Phelan K, Boccuto L, Rogers RC, Sarasua SM, McDermid HE. Phelan K, et al. Among authors: sarasua sm. Am J Med Genet A. 2015 Jul;167(7):1679-80. doi: 10.1002/ajmg.a.36788. Am J Med Genet A. 2015. PMID: 26295085 No abstract available.

3

Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.

Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE. Oberman LM, et al. Orphanet J Rare Dis. 2015 Aug 27;10:105. doi: 10.1186/s13023-015-0323-9. Orphanet J Rare Dis. 2015. PMID: 26306707 Free PMC article.

4

Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.

Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, Thurm A. Mitz AR, et al. Among authors: sarasua sm. Eur J Hum Genet. 2018 Mar;26(3):293-302. doi: 10.1038/s41431-017-0042-x. Epub 2018 Jan 22. Eur J Hum Genet. 2018. PMID: 29358616 Free PMC article.

5

Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.

Ziats CA, Jain L, McLarney B, Vandenboom E, DuPont BR, Rogers C, Sarasua S, Nevado J, Cordisco EL, Phelan K, Boccuto L. Ziats CA, et al. Eur J Med Genet. 2020 Nov;63(11):104042. doi: 10.1016/j.ejmg.2020.104042. Epub 2020 Aug 19. Eur J Med Genet. 2020. PMID: 32822873 Review.

6

Tremors: A concept analysis.

Cooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM. Cooley Coleman JA, et al. Among authors: sarasua sm. Nurs Open. 2021 Sep;8(5):2419-2428. doi: 10.1002/nop2.840. Epub 2021 Apr 2. Nurs Open. 2021. PMID: 33797860 Free PMC article.

7

Genetic and environmental factors influencing the interaction between the gut microbiota and the human host: implications for gastrointestinal disorders and treatment approaches.

Meaddough E, Abenavoli L, Sarasua S, Boccuto L. Meaddough E, et al. Minerva Gastroenterol (Torino). 2021 Dec;67(4):369-376. doi: 10.23736/S2724-5985.21.02927-2. Epub 2021 May 31. Minerva Gastroenterol (Torino). 2021. PMID: 34057334

8

Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.

Cooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM. Cooley Coleman JA, et al. Among authors: sarasua sm. Am J Med Genet A. 2021 Dec;185(12):3884-3894. doi: 10.1002/ajmg.a.62412. Epub 2021 Jun 29. Am J Med Genet A. 2021. PMID: 34184825 Review.

9

Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.

Srikanth S, Jain L, Zepeda-Mendoza C, Cascio L, Jones K, Pauly R, DuPont B, Rogers C, Sarasua S, Phelan K, Morton C, Boccuto L. Srikanth S, et al. PLoS One. 2021 Jul 6;16(7):e0253859. doi: 10.1371/journal.pone.0253859. eCollection 2021. PLoS One. 2021. PMID: 34228749 Free PMC article.

10

Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome.

Dyar B, Meaddough E, Sarasua SM, Rogers C, Phelan K, Boccuto L. Dyar B, et al. Among authors: sarasua sm. Genes (Basel). 2021 Jul 30;12(8):1192. doi: 10.3390/genes12081192. Genes (Basel). 2021. PMID: 34440366 Free PMC article. Review.

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

54 results

Search Page

Filters