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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1991 1
1992 1
1995 1
1997 1
2000 1
2001 1
2003 1
2004 2
2006 1
2009 1
2011 3
2012 3
2013 2
2015 1
2016 1
2017 2
2018 1
2019 2
2020 1
2021 3
2023 2
2024 1

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32 results

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Page 1
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: vallee s. Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8. Hum Mutat. 2011. PMID: 21309039
Complement factor D targeting protects endotheliopathy in organoid and monkey models of COVID-19.
Kawakami E, Saiki N, Yoneyama Y, Moriya C, Maezawa M, Kawamura S, Kinebuchi A, Kono T, Funata M, Sakoda A, Kondo S, Ebihara T, Matsumoto H, Togami Y, Ogura H, Sugihara F, Okuzaki D, Kojima T, Deguchi S, Vallee S, McQuade S, Islam R, Natarajan M, Ishigaki H, Nakayama M, Nguyen CT, Kitagawa Y, Wu Y, Mori K, Hishiki T, Takasaki T, Itoh Y, Takayama K, Nio Y, Takebe T. Kawakami E, et al. Among authors: vallee s. Cell Stem Cell. 2023 Oct 5;30(10):1315-1330.e10. doi: 10.1016/j.stem.2023.09.001. Cell Stem Cell. 2023. PMID: 37802037
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB. Curry CJ, et al. Among authors: vallee s. Am J Med Genet A. 2013 Aug;161A(8):1833-52. doi: 10.1002/ajmg.a.35996. Epub 2013 Jun 27. Am J Med Genet A. 2013. PMID: 23813913 Free PMC article.
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, Dowsett L, Graham JM Jr, Alkuraya FS, Hashem M, Dinulos MB, Vallee S, Adam MP, Glass I, Beck AE, Stevens CA, Zackai E, McDougall C, Keena B, Peron A, Vignoli A, Seaver LH, Slavin TP, Hudgins L. Carter LB, et al. Among authors: vallee s. Am J Med Genet A. 2019 Aug;179(8):1543-1546. doi: 10.1002/ajmg.a.61266. Epub 2019 Jun 17. Am J Med Genet A. 2019. PMID: 31207089 Free PMC article. Review.
Vesiculobullous eosinophilic annular erythema: A case report.
Lachance M, Vallée S, Gagné É. Lachance M, et al. Among authors: vallee s. SAGE Open Med Case Rep. 2023 Jun 21;11:2050313X231181024. doi: 10.1177/2050313X231181024. eCollection 2023. SAGE Open Med Case Rep. 2023. PMID: 37359280 Free PMC article.
Phototherapy causing a purpuric eruption in a neonate.
Pelchat F, Lagacé M, Vallée S. Pelchat F, et al. Among authors: vallee s. Pediatr Dermatol. 2024 Feb 11. doi: 10.1111/pde.15550. Online ahead of print. Pediatr Dermatol. 2024. PMID: 38342503
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Martin-Almedina S, Ogmen K, Sackey E, Grigoriadis D, Karapouliou C, Nadarajah N, Ebbing C, Lord J, Mellis R, Kortuem F, Dinulos MB, Polun C, Bale S, Atton G, Robinson A, Reigstad H, Houge G, von der Wense A, Becker WH, Jeffery S, Mortimer PS, Gordon K, Josephs KS, Robart S, Kilby MD, Vallee S, Gorski JL, Hempel M, Berland S, Mansour S, Ostergaard P. Martin-Almedina S, et al. Among authors: vallee s. Genet Med. 2021 Jul;23(7):1315-1324. doi: 10.1038/s41436-021-01136-7. Epub 2021 Apr 16. Genet Med. 2021. PMID: 33864021 Free PMC article.
32 results