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Year | Number of Results |
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2015 | 1 |
2017 | 1 |
2018 | 1 |
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2024 | 0 |
PubMed for id: 903483
5 results
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Page 1
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
Am J Hum Genet. 2015 May 7;96(5):765-74. doi: 10.1016/j.ajhg.2015.03.011. Epub 2015 Apr 23.
Am J Hum Genet. 2015.
PMID: 25913037
Free PMC article.
Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development.
Falcon KT, Watt KEN, Dash S, Zhao R, Sakai D, Moore EL, Fitriasari S, Childers M, Sardiu ME, Swanson S, Tsuchiya D, Unruh J, Bugarinovic G, Li L, Shiang R, Achilleos A, Dixon J, Dixon MJ, Trainor PA.
Falcon KT, et al.
Proc Natl Acad Sci U S A. 2022 Aug 2;119(31):e2116974119. doi: 10.1073/pnas.2116974119. Epub 2022 Jul 26.
Proc Natl Acad Sci U S A. 2022.
PMID: 35881792
Free PMC article.
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Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.
Shenoy RD, Shetty V, Dheedene A, Menten B, Pandyanda Nanjappa D, Chakraborty G, Sips P, de Paepe A, Callewaert B, Chakraborty A.
Shenoy RD, et al.
Cleft Palate Craniofac J. 2022 Nov;59(11):1346-1351. doi: 10.1177/10556656211050006. Epub 2021 Oct 29.
Cleft Palate Craniofac J. 2022.
PMID: 34714179
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tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis-Cincinnati type.
Watt KEN, Neben CL, Hall S, Merrill AE, Trainor PA.
Watt KEN, et al.
Hum Mol Genet. 2018 Aug 1;27(15):2628-2643. doi: 10.1093/hmg/ddy172.
Hum Mol Genet. 2018.
PMID: 29750247
Free PMC article.
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Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.
Terrazas K, Dixon J, Trainor PA, Dixon MJ.
Terrazas K, et al.
Wiley Interdiscip Rev Dev Biol. 2017 May;6(3):10.1002/wdev.263. doi: 10.1002/wdev.263. Epub 2017 Feb 10.
Wiley Interdiscip Rev Dev Biol. 2017.
PMID: 28186364
Free PMC article.
Review.
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