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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1993 | 1 |
1998 | 1 |
2000 | 1 |
2002 | 1 |
2010 | 1 |
2011 | 1 |
2015 | 1 |
2021 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 9533
7 results
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Page 1
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700.
J Clin Endocrinol Metab. 2021.
PMID: 33005949
Free PMC article.
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR 3rd, Coulombe B, Bernard G.
Thiffault I, et al.
Nat Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623.
Nat Commun. 2015.
PMID: 26151409
Free PMC article.
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D.
Dauwerse JG, et al.
Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5.
Nat Genet. 2011.
PMID: 21131976
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Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits.
Hu P, Wu S, Sun Y, Yuan CC, Kobayashi R, Myers MP, Hernandez N.
Hu P, et al.
Mol Cell Biol. 2002 Nov;22(22):8044-55. doi: 10.1128/MCB.22.22.8044-8055.2002.
Mol Cell Biol. 2002.
PMID: 12391170
Free PMC article.
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High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.
Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR.
Splendore A, et al.
Hum Mutat. 2000 Oct;16(4):315-22. doi: 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H.
Hum Mutat. 2000.
PMID: 11013442
Review.
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Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning.
Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ, Chen Z.
Mao M, et al.
Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8175-80. doi: 10.1073/pnas.95.14.8175.
Proc Natl Acad Sci U S A. 1998.
PMID: 9653160
Free PMC article.
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Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance.
Richieri-Costa A, Bortolozo MA, Lauris JR, Lauris RC, Guion-Almeida ML, Marques D, Moreti D.
Richieri-Costa A, et al.
Am J Med Genet. 1993 Jul 1;46(6):659-64. doi: 10.1002/ajmg.1320460611.
Am J Med Genet. 1993.
PMID: 8362908
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