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Year Number of Results
2011 5
2012 1
2013 1
2014 1
2015 3
2016 4
2018 4
2019 2
2020 0
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19 results
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Page 1
Smith-Magenis Syndrome: Face Speaks.
Gupta R, Gupta N, Nampoothiri S, Mandal K, Kishore Y, Sharma P, Kabra M, Phadke SR. Gupta R, et al. Indian J Pediatr. 2016 Jun;83(6):589-93. doi: 10.1007/s12098-015-1940-y. Epub 2015 Dec 17. Indian J Pediatr. 2016. PMID: 26676648
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
Venetoclax for Patients With Chronic Lymphocytic Leukemia With 17p Deletion: Results From the Full Population of a Phase II Pivotal Trial.
Stilgenbauer S, Eichhorst B, Schetelig J, Hillmen P, Seymour JF, Coutre S, Jurczak W, Mulligan SP, Schuh A, Assouline S, Wendtner CM, Roberts AW, Davids MS, Bloehdorn J, Munir T, Böttcher S, Zhou L, Salem AH, Desai M, Chyla B, Arzt J, Kim SY, Verdugo M, Gordon G, Hallek M, Wierda WG. Stilgenbauer S, et al. J Clin Oncol. 2018 Jul 1;36(19):1973-1980. doi: 10.1200/JCO.2017.76.6840. Epub 2018 May 1. J Clin Oncol. 2018. PMID: 29715056 Clinical Trial.
Comprehensive Safety Analysis of Venetoclax Monotherapy for Patients with Relapsed/Refractory Chronic Lymphocytic Leukemia.
Davids MS, Hallek M, Wierda W, Roberts AW, Stilgenbauer S, Jones JA, Gerecitano JF, Kim SY, Potluri J, Busman T, Best A, Verdugo ME, Cerri E, Desai M, Hillmen P, Seymour JF. Davids MS, et al. Clin Cancer Res. 2018 Sep 15;24(18):4371-4379. doi: 10.1158/1078-0432.CCR-17-3761. Epub 2018 Jun 12. Clin Cancer Res. 2018. PMID: 29895707 Free article.
Periventricular nodular heterotopia in Smith-Magenis syndrome.
Capra V, Biancheri R, Morana G, Striano P, Novara F, Ferrero GB, Boeri L, Celle ME, Mancardi MM, Zuffardi O, Parrini E, Guerrini R. Capra V, et al. Am J Med Genet A. 2014 Dec;164A(12):3142-7. doi: 10.1002/ajmg.a.36742. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25257626
Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients.
Gamba BF, Vieira GH, Souza DH, Monteiro FF, Lorenzini JJ, Carvalho DR, Morreti-Ferreira D. Gamba BF, et al. Genet Mol Res. 2011 Oct 31;10(4):2664-70. doi: 10.4238/2011.October.31.17. Genet Mol Res. 2011. PMID: 22057962 Free article. Clinical Trial.
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