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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2005 | 1 |
2007 | 1 |
2011 | 1 |
2012 | 2 |
2017 | 1 |
2019 | 1 |
2024 | 0 |
PubMed (GeneRIF) for id: 55217
7 results
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Page 1
Investigating the active site of human trimethyllysine hydroxylase.
Biochem J. 2019 Apr 10;476(7):1109-1119. doi: 10.1042/BCJ20180857.
Biochem J. 2019.
PMID: 30898847
Complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis.
Chen C, Xie X, Wu X, Lu Y, Wang X, Wu W, Hu Y, Ding Q.
Chen C, et al.
Thromb Haemost. 2017 Jul 26;117(8):1478-1485. doi: 10.1160/TH17-01-0046. Epub 2017 May 11.
Thromb Haemost. 2017.
PMID: 28492696
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Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C.
Nava C, et al.
Transl Psychiatry. 2012 Oct 23;2(10):e179. doi: 10.1038/tp.2012.102.
Transl Psychiatry. 2012.
PMID: 23092983
Free PMC article.
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A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH Jr, Goin-Kochel RP, Vaz FM, Beaudet AL.
Celestino-Soper PB, et al.
Proc Natl Acad Sci U S A. 2012 May 22;109(21):7974-81. doi: 10.1073/pnas.1120210109. Epub 2012 May 7.
Proc Natl Acad Sci U S A. 2012.
PMID: 22566635
Free PMC article.
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Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH Jr, Stankiewicz P, State MW, Beaudet AL.
Celestino-Soper PB, et al.
Hum Mol Genet. 2011 Nov 15;20(22):4360-70. doi: 10.1093/hmg/ddr363. Epub 2011 Aug 24.
Hum Mol Genet. 2011.
PMID: 21865298
Free PMC article.
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Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants.
Monfregola J, Napolitano G, Conte I, Cevenini A, Migliaccio C, D'Urso M, Ursini MV.
Monfregola J, et al.
Gene. 2007 Jun 15;395(1-2):86-97. doi: 10.1016/j.gene.2007.02.012. Epub 2007 Feb 28.
Gene. 2007.
PMID: 17408883
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Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting.
Monfregola J, Cevenini A, Terracciano A, van Vlies N, Arbucci S, Wanders RJ, D'Urso M, Vaz FM, Ursini MV.
Monfregola J, et al.
J Cell Physiol. 2005 Sep;204(3):839-47. doi: 10.1002/jcp.20332.
J Cell Physiol. 2005.
PMID: 15754339
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