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Year Number of Results
1998 1
1999 1
2001 2
2003 2
2005 1
2007 1
2009 3
2012 2
2013 2
2015 1
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2017 2
2018 2
2019 2
2020 1
2021 1
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27 results

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Page 1
Variable phenotype in a novel mutation in PHOX2B.
Lombardo RC, Kramer E, Cnota JF, Sawnani H, Hopkin RJ. Lombardo RC, et al. Am J Med Genet A. 2017 Jun;173(6):1705-1709. doi: 10.1002/ajmg.a.38218. Epub 2017 Apr 19. Am J Med Genet A. 2017. PMID: 28422456
Congenital lumbar hernia-A feature of diabetic embryopathy?
Stevens CA, Hogue JS, Hopkin RJ, Lombardo RC, Schrier Vergano SA. Stevens CA, et al. Am J Med Genet A. 2018 Nov;176(11):2243-2249. doi: 10.1002/ajmg.a.40381. Epub 2018 Oct 1. Am J Med Genet A. 2018. PMID: 30276953
Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.
Lavigne J, Sharr C, Elsharkawi I, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier K, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Lavigne J, et al. Am J Med Genet A. 2017 Jun;173(6):1539-1545. doi: 10.1002/ajmg.a.38219. Epub 2017 Mar 23. Am J Med Genet A. 2017. PMID: 28332275
Candidate phylum TM6 genome recovered from a hospital sink biofilm provides genomic insights into this uncultivated phylum.
McLean JS, Lombardo MJ, Badger JH, Edlund A, Novotny M, Yee-Greenbaum J, Vyahhi N, Hall AP, Yang Y, Dupont CL, Ziegler MG, Chitsaz H, Allen AE, Yooseph S, Tesler G, Pevzner PA, Friedman RM, Nealson KH, Venter JC, Lasken RS. McLean JS, et al. Proc Natl Acad Sci U S A. 2013 Jun 25;110(26):E2390-9. doi: 10.1073/pnas.1219809110. Epub 2013 Jun 10. Proc Natl Acad Sci U S A. 2013. PMID: 23754396 Free PMC article.
Detecting celiac disease in patients with Down syndrome.
Sharr C, Lavigne J, Elsharkawi IM, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Sharr C, et al. Am J Med Genet A. 2016 Dec;170(12):3098-3105. doi: 10.1002/ajmg.a.37879. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605215
Enantioseparation of fluorinated 3-arylthio-4,4'-bipyridines: Insights into chalcogen and π-hole bonds in high-performance liquid chromatography.
Peluso P, Gatti C, Dessì A, Dallocchio R, Weiss R, Aubert E, Pale P, Cossu S, Mamane V. Peluso P, et al. J Chromatogr A. 2018 Sep 14;1567:119-129. doi: 10.1016/j.chroma.2018.06.060. Epub 2018 Jun 25. J Chromatogr A. 2018. PMID: 29961652
A chalcogen bond (ChB) is a sigma-hole-based noncovalent interaction between a Lewis base and an electrophilic element of Group VI (O, S, Se, Te), which behaves as a Lewis acid. Recently, we demonstrated that halogen bond, the more familiar sigma-hole-based interaction, is …
A chalcogen bond (ChB) is a sigma-hole-based noncovalent interaction between a Lewis base and an electrophilic element of Group VI (O, S …
National down syndrome patient database: Insights from the development of a multi-center registry study.
Lavigne J, Sharr C, Ozonoff A, Prock LA, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McCannon JB, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Lavigne J, et al. Am J Med Genet A. 2015 Nov;167A(11):2520-6. doi: 10.1002/ajmg.a.37267. Epub 2015 Aug 6. Am J Med Genet A. 2015. PMID: 26249752
Data were entered by clinical staff or trained designees into the National Down Syndrome Patient Database, which we created using REDCap software. In our pilot year, we enrolled 663 participants across the U.S., ages 36 days to 70 years, from multiple racial and ethnic bac …
Data were entered by clinical staff or trained designees into the National Down Syndrome Patient Database, which we created using REDCap sof …
27 results