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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2000 | 2 |
2001 | 1 |
2017 | 1 |
2019 | 1 |
2020 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 51227
6 results
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Page 1
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations.
Neurol Genet. 2020 Jan 2;6(1):e387. doi: 10.1212/NXG.0000000000000387. eCollection 2020 Feb.
Neurol Genet. 2020.
PMID: 32042915
Free PMC article.
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.
Krenn M, Knaus A, Westphal DS, Wortmann SB, Polster T, Woermann FG, Karenfort M, Mayatepek E, Meitinger T, Wagner M, Distelmaier F.
Krenn M, et al.
Ann Clin Transl Neurol. 2019 Apr 11;6(5):968-973. doi: 10.1002/acn3.768. eCollection 2019 May.
Ann Clin Transl Neurol. 2019.
PMID: 31139695
Free PMC article.
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Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tétreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE; Care4Rare Canada Consortium; Kinoshita T, Dyment DA, Boycott KM, Campeau PM.
Johnstone DL, et al.
Hum Mol Genet. 2017 May 1;26(9):1706-1715. doi: 10.1093/hmg/ddx077.
Hum Mol Genet. 2017.
PMID: 28334793
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Molecular cloning and characterization of a gene expressed in mouse developing tongue, mDscr5 gene, a homolog of human DSCR5 (Down syndrome Critical Region gene 5).
Choi DK, Suzuki Y, Yoshimura S, Togashi T, Hida M, Taylor TD, Wang Y, Sugano S, Hattori M, Sakaki Y.
Choi DK, et al.
Mamm Genome. 2001 May;12(5):347-51. doi: 10.1007/s003350010283.
Mamm Genome. 2001.
PMID: 11331941
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A novel gene, DSCR5, from the distal Down syndrome critical region on chromosome 21q22.2.
Togashi T, Choi DK, Taylor TD, Suzuki Y, Sugano S, Hattori M, Sakaki Y.
Togashi T, et al.
DNA Res. 2000 Jun 30;7(3):207-12. doi: 10.1093/dnares/7.3.207.
DNA Res. 2000.
PMID: 10907851
Free article.
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Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2.
Shibuya K, Kudoh J, Minoshima S, Kawasaki K, Asakawa S, Shimizu N.
Shibuya K, et al.
Biochem Biophys Res Commun. 2000 May 19;271(3):693-8. doi: 10.1006/bbrc.2000.2685.
Biochem Biophys Res Commun. 2000.
PMID: 10814524
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