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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1993 | 1 |
2003 | 1 |
2004 | 1 |
2007 | 1 |
2012 | 3 |
2013 | 2 |
2014 | 1 |
2017 | 1 |
2024 | 0 |
PubMed for id: 11315
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C5orf42 is the major gene responsible for OFD syndrome type VI.
Hum Genet. 2014 Mar;133(3):367-77. doi: 10.1007/s00439-013-1385-1. Epub 2013 Nov 1.
Hum Genet. 2014.
PMID: 24178751
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V; FORGE Canada Consortium; Maranda B, Rouleau GA, Majewski J, Michaud JL.
Srour M, et al.
Am J Hum Genet. 2012 Apr 6;90(4):693-700. doi: 10.1016/j.ajhg.2012.02.011. Epub 2012 Mar 15.
Am J Hum Genet. 2012.
PMID: 22425360
Free PMC article.
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Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy.
Lim YM, Koh I, Park YM, Kim JJ, Kim DS, Kim HJ, Baik KH, Choi HY, Yang GS, Also-Rallo E, Tizzano EF, Gamez J, Park K, Yoo HW, Lee JK, Kim KK.
Lim YM, et al.
Neuromuscul Disord. 2012 May;22(5):394-400. doi: 10.1016/j.nmd.2011.11.006. Epub 2012 Jan 20.
Neuromuscul Disord. 2012.
PMID: 22264561
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Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.
Shaheen R, Faqeih E, Alshammari MJ, Swaid A, Al-Gazali L, Mardawi E, Ansari S, Sogaty S, Seidahmed MZ, AlMotairi MI, Farra C, Kurdi W, Al-Rasheed S, Alkuraya FS.
Shaheen R, et al.
Eur J Hum Genet. 2013 Jul;21(7):762-8. doi: 10.1038/ejhg.2012.254. Epub 2012 Nov 21.
Eur J Hum Genet. 2013.
PMID: 23169490
Free PMC article.
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Joubert Syndrome.
Parisi M, Glass I.
Parisi M, et al.
2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 20301500
Free Books & Documents.
Review.
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Broad spectrum identification of SUMO substrates in melanoma cells.
Ganesan AK, Kho Y, Kim SC, Chen Y, Zhao Y, White MA.
Ganesan AK, et al.
Proteomics. 2007 Jun;7(13):2216-21. doi: 10.1002/pmic.200600971.
Proteomics. 2007.
PMID: 17549794
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The DNA sequence and comparative analysis of human chromosome 5.
Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM.
Schmutz J, et al.
Nature. 2004 Sep 16;431(7006):268-74. doi: 10.1038/nature02919.
Nature. 2004.
PMID: 15372022
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