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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2009 | 1 |
2013 | 1 |
2014 | 1 |
2024 | 0 |
PubMed (GeneRIF) for id: 113246
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Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
Am J Med Genet A. 2014 Aug;164A(8):1976-80. doi: 10.1002/ajmg.a.36592. Epub 2014 May 5.
Am J Med Genet A. 2014.
PMID: 24798461
Review.
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.
Zahrani F, Aldahmesh MA, Alshammari MJ, Al-Hazzaa SA, Alkuraya FS.
Zahrani F, et al.
Am J Hum Genet. 2013 Mar 7;92(3):387-91. doi: 10.1016/j.ajhg.2013.01.008. Epub 2013 Feb 28.
Am J Hum Genet. 2013.
PMID: 23453665
Free PMC article.
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Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
Chapuis J, Hot D, Hansmannel F, Kerdraon O, Ferreira S, Hubans C, Maurage CA, Huot L, Bensemain F, Laumet G, Ayral AM, Fievet N, Hauw JJ, DeKosky ST, Lemoine Y, Iwatsubo T, Wavrant-Devrièze F, Dartigues JF, Tzourio C, Buée L, Pasquier F, Berr C, Mann D, Lendon C, Alpérovitch A, Kamboh MI, Amouyel P, Lambert JC.
Chapuis J, et al.
Mol Psychiatry. 2009 Nov;14(11):1004-16. doi: 10.1038/mp.2009.10. Epub 2009 Feb 10.
Mol Psychiatry. 2009.
PMID: 19204726
Free PMC article.
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