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A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation.
Sci Signal. 2023 Feb 7;16(771):eadd0509. doi: 10.1126/scisignal.add0509. Epub 2023 Feb 7.
Sci Signal. 2023.
PMID: 36749824
STIM1 R304W causes muscle degeneration and impaired platelet activation in mice.
Gamage TH, Gunnes G, Lee RH, Louch WE, Holmgren A, Bruton JD, Lengle E, Kolstad TRS, Revold T, Amundsen SS, Dalen KT, Holme PA, Tjønnfjord GE, Christensen G, Westerblad H, Klungland A, Bergmeier W, Misceo D, Frengen E.
Gamage TH, et al.
Cell Calcium. 2018 Dec;76:87-100. doi: 10.1016/j.ceca.2018.10.001. Epub 2018 Oct 5.
Cell Calcium. 2018.
PMID: 30390422
Free PMC article.
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STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone.
Gamage TH, Lengle E, Gunnes G, Pullisaar H, Holmgren A, Reseland JE, Merckoll E, Corti S, Mizobuchi M, Morales RJ, Tsiokas L, Tjønnfjord GE, Lacruz RS, Lyngstadaas SP, Misceo D, Frengen E.
Gamage TH, et al.
Cell Calcium. 2020 Jan;85:102110. doi: 10.1016/j.ceca.2019.102110. Epub 2019 Nov 13.
Cell Calcium. 2020.
PMID: 31785581
Free article.
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A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy.
Gamage TH, Misceo D, Fannemel M, Frengen E.
Gamage TH, et al.
Eur J Med Genet. 2013 Jul;56(7):361-4. doi: 10.1016/j.ejmg.2013.04.005. Epub 2013 May 9.
Eur J Med Genet. 2013.
PMID: 23664928
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A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.
Sumathipala DS, Misceo D, Larsen SM, Barøy T, Gamage TH, Frengen E, Strømme P.
Sumathipala DS, et al. Among authors: gamage th.
Clin Dysmorphol. 2020 Apr;29(2):107-110. doi: 10.1097/MCD.0000000000000314.
Clin Dysmorphol. 2020.
PMID: 31929336
No abstract available.
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Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay.
Pedurupillay CR, Misceo D, Gamage TH, Dissanayake VH, Frengen E.
Pedurupillay CR, et al. Among authors: gamage th.
Gene. 2014 Jan 1;533(1):403-10. doi: 10.1016/j.gene.2013.09.090. Epub 2013 Oct 2.
Gene. 2014.
PMID: 24095780
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A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl.
Belengeanu V, Gamage TH, Farcas S, Stoian M, Andreescu N, Belengeanu A, Frengen E, Misceo D.
Belengeanu V, et al. Among authors: gamage th.
Gene. 2014 Apr 10;539(1):168-72. doi: 10.1016/j.gene.2014.01.060. Epub 2014 Feb 4.
Gene. 2014.
PMID: 24508274
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A child with mosaicism for deletion (14)(q11.2q13).
Gamage TH, Godapitiya IU, Nanayakkara S, Jayasekara RW, Dissanayake VH.
Gamage TH, et al.
Indian J Hum Genet. 2012 Jan;18(1):130-3. doi: 10.4103/0971-6866.96684.
Indian J Hum Genet. 2012.
PMID: 22754240
Free PMC article.
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