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Items: 10

1.

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

Moen MN, Fjær R, Hamdani EH, Laerdahl JK, Menchini RJ, Vigeland MD, Sheng Y, Undlien DE, Hassel B, Salih MA, El Khashab HY, Selmer KK, Chaudhry FA.

Brain. 2016 Dec;139(Pt 12):3109-3120. Epub 2016 Oct 14.

PMID:
27742667
2.

KCTD7-related progressive myoclonus epilepsy.

Van Bogaert P.

Epileptic Disord. 2016 Sep 1;18(S2):115-119. Review.

PMID:
27629772
3.

The contribution of common genetic variation to nicotine and cotinine glucuronidation in multiple ethnic/racial populations.

Patel YM, Stram DO, Wilkens LR, Park SS, Henderson BE, Le Marchand L, Haiman CA, Murphy SE.

Cancer Epidemiol Biomarkers Prev. 2015 Jan;24(1):119-27. doi: 10.1158/1055-9965.EPI-14-0815. Epub 2014 Oct 7.

4.

Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.

Farhan SM, Murphy LM, Robinson JF, Wang J, Siu VM, Rupar CA, Prasad AN; FORGE Canada Consortium, Hegele RA.

Epilepsia. 2014 Sep;55(9):e106-11. doi: 10.1111/epi.12730. Epub 2014 Jul 24.

5.

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

Kousi M, Anttila V, Schulz A, Calafato S, Jakkula E, Riesch E, Myllykangas L, Kalimo H, Topçu M, Gökben S, Alehan F, Lemke JR, Alber M, Palotie A, Kopra O, Lehesjoki AE.

J Med Genet. 2012 Jun;49(6):391-9. doi: 10.1136/jmedgenet-2012-100859.

6.

Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.

Wineinger NE, Patki A, Meyers KJ, Broeckel U, Gu CC, Rao DC, Devereux RB, Arnett DK, Tiwari HK.

BMC Med Genomics. 2011 Jan 11;4:4. doi: 10.1186/1755-8794-4-4.

7.

Neuronal Ceroid-Lipofuscinoses.

Mole SE, Williams RE.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Oct 10 [updated 2013 Aug 1].

8.

Hereditary Dystonia Overview.

Klein C, Lohmann K, Marras C, Münchau A.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. No abstract available.
2003 Oct 28 [updated 2017 Jun 22].

9.

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.

Van Bogaert P, Azizieh R, Désir J, Aeby A, De Meirleir L, Laes JF, Christiaens F, Abramowicz MJ.

Ann Neurol. 2007 Jun;61(6):579-86.

PMID:
17455289
10.

Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes.

Choy KW, Wang CC, Ogura A, Lau TK, Rogers MS, Ikeo K, Gojobori T, Lam DS, Pang CP.

Physiol Genomics. 2006 Mar 13;25(1):9-15. Epub 2005 Dec 20.

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