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Year | Number of Results |
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2019 | 2 |
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PubMed (cited) for id: 603107
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Page 1
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0.
Genome Med. 2019.
PMID: 30819258
Free PMC article.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J.
Torti E, et al.
Genet Med. 2019 Sep;21(9):2036-2042. doi: 10.1038/s41436-019-0454-9. Epub 2019 Feb 11.
Genet Med. 2019.
PMID: 30739909
Free PMC article.
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De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
Schäfgen J, Cremer K, Becker J, Wieland T, Zink AM, Kim S, Windheuser IC, Kreiß M, Aretz S, Strom TM, Wieczorek D, Engels H.
Schäfgen J, et al.
Eur J Hum Genet. 2016 Dec;24(12):1739-1745. doi: 10.1038/ejhg.2016.90. Epub 2016 Jul 20.
Eur J Hum Genet. 2016.
PMID: 27436265
Free PMC article.
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De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
Babbs C, Lloyd D, Pagnamenta AT, Twigg SR, Green J, McGowan SJ, Mirza G, Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJ; International Molecular Genetic Study of Autism Consortium (IMGSAC); Parr JR, Wilkie AO.
Babbs C, et al.
J Med Genet. 2014 Nov;51(11):737-47. doi: 10.1136/jmedgenet-2014-102582. Epub 2014 Sep 16.
J Med Genet. 2014.
PMID: 25228304
Free PMC article.
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SPBP is a phosphoserine-specific repressor of estrogen receptor alpha.
Gburcik V, Bot N, Maggiolini M, Picard D.
Gburcik V, et al.
Mol Cell Biol. 2005 May;25(9):3421-30. doi: 10.1128/MCB.25.9.3421-3430.2005.
Mol Cell Biol. 2005.
PMID: 15831449
Free PMC article.
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Assignment of AR1, transcription factor 20 (TCF20), to human chromosome 22q13.3 with somatic cell hybrids and in situ hybridization.
Rajadhyaksha A, Rivière M, Van Vooren P, Szpirer J, Szpirer C, Babin J, Bina M.
Rajadhyaksha A, et al.
Cytogenet Cell Genet. 1998;81(3-4):176-7. doi: 10.1159/000015021.
Cytogenet Cell Genet. 1998.
PMID: 9730594
No abstract available.
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Molecular characterization of a novel transcription factor that controls stromelysin expression.
Sanz L, Moscat J, Diaz-Meco MT.
Sanz L, et al.
Mol Cell Biol. 1995 Jun;15(6):3164-70. doi: 10.1128/MCB.15.6.3164.
Mol Cell Biol. 1995.
PMID: 7760812
Free PMC article.
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