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Year | Number of Results |
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PubMed (cited) for id: 300777
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Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.
Am J Med Genet A. 2015 Sep;167A(9):2162-7. doi: 10.1002/ajmg.a.37144. Epub 2015 May 5.
Am J Med Genet A. 2015.
PMID: 25943046
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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Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis.
Vaz FM, Ofman R, Westinga K, Back JW, Wanders RJ.
Vaz FM, et al.
J Biol Chem. 2001 Sep 7;276(36):33512-7. doi: 10.1074/jbc.M105929200. Epub 2001 Jun 28.
J Biol Chem. 2001.
PMID: 11431483
Free article.
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