Similar articles for PMID: 28553959

Year	Number of Results
1979	1
1993	2
1994	1
1999	2
2000	1
2001	2
2002	1
2003	1
2004	2
2005	3
2006	1
2007	2
2008	3
2010	2
2011	2
2012	3
2013	5
2014	7
2015	7
2016	6
2017	8
2018	5
2019	9
2020	8
2021	3
2022	4
2023	1
2024	0

1

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.

Yost S, de Wolf B, Hanks S, Zachariou A, Marcozzi C, Clarke M, de Voer R, Etemad B, Uijttewaal E, Ramsay E, Wylie H, Elliott A, Picton S, Smith A, Smithson S, Seal S, Ruark E, Houge G, Pines J, Kops GJPL, Rahman N. Yost S, et al. Nat Genet. 2017 Jul;49(7):1148-1151. doi: 10.1038/ng.3883. Epub 2017 May 29. Nat Genet. 2017. PMID: 28553959 Free PMC article.

2

Absence of the TRIP13 c.1060C>T Mutation in Wilms Tumor Patients From Pakistan.

Rashid MU, Naeemi H, Qazi AQ, Muhammad N, Ahmad M, Akhtar N, Rahman N. Rashid MU, et al. J Pediatr Hematol Oncol. 2020 Apr;42(3):e128-e131. doi: 10.1097/MPH.0000000000001602. J Pediatr Hematol Oncol. 2020. PMID: 31574018

3

Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature.

Kawame H, Sugio Y, Fuyama Y, Hayashi Y, Suzuki H, Kurosawa K, Maekawa K. Kawame H, et al. J Hum Genet. 1999;44(4):219-24. doi: 10.1007/s100380050147. J Hum Genet. 1999. PMID: 10429359 Review.

4

Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome.

Hanks S, Coleman K, Summersgill B, Messahel B, Williamson D, Pritchard-Jones K, Strefford J, Swansbury J, Plaja A, Shipley J, Rahman N. Hanks S, et al. Cancer Lett. 2006 Aug 8;239(2):234-8. doi: 10.1016/j.canlet.2005.08.006. Epub 2005 Sep 22. Cancer Lett. 2006. PMID: 16182441

5

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.

Pinson L, Mannini L, Willems M, Cucco F, Sirvent N, Frebourg T, Quarantotti V, Collet C, Schneider A, Sarda P, Geneviève D, Puechberty J, Lefort G, Musio A. Pinson L, et al. Am J Med Genet A. 2014 Jan;164A(1):177-81. doi: 10.1002/ajmg.a.36166. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259107

6

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.

Pavone P, Pappalardo XG, Mustafa N, Falsaperla R, Marino SD, Corsello G, Bianca S, Parano E, Ruggieri M. Pavone P, et al. Neurol Sci. 2022 Nov;43(11):6529-6538. doi: 10.1007/s10072-022-06247-w. Epub 2022 Jul 9. Neurol Sci. 2022. PMID: 35804254 Free PMC article.

7

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

Hanks S, Coleman K, Reid S, Plaja A, Firth H, Fitzpatrick D, Kidd A, Méhes K, Nash R, Robin N, Shannon N, Tolmie J, Swansbury J, Irrthum A, Douglas J, Rahman N. Hanks S, et al. Nat Genet. 2004 Nov;36(11):1159-61. doi: 10.1038/ng1449. Epub 2004 Oct 10. Nat Genet. 2004. PMID: 15475955 Free article.

8

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.

Dery T, Chatron N, Alqahtani A, Pugeat M, Till M, Edery P, Sanlaville D, Schluth-Bolard C, Nicolino M, Lesca G, Putoux A. Dery T, et al. Eur J Med Genet. 2020 Nov;63(11):104044. doi: 10.1016/j.ejmg.2020.104044. Epub 2020 Aug 28. Eur J Med Genet. 2020. PMID: 32861809

9

Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.

García-Castillo H, Vásquez-Velásquez AI, Rivera H, Barros-Núñez P. García-Castillo H, et al. Am J Med Genet A. 2008 Jul 1;146A(13):1687-95. doi: 10.1002/ajmg.a.32315. Am J Med Genet A. 2008. PMID: 18548531 Review.

10

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Snape K, Hanks S, Ruark E, Barros-Núñez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N. Snape K, et al. Nat Genet. 2011 Jun;43(6):527-9. doi: 10.1038/ng.822. Epub 2011 May 8. Nat Genet. 2011. PMID: 21552266 Free PMC article.

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