278 related articles for article (PubMed ID: 28553959)
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
Nat Genet; 2017 Jul; 49(7):1148-1151. PubMed ID: 28553959
[TBL] [Abstract][Full Text] [Related]
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
J Pediatr Hematol Oncol; 2020 Apr; 42(3):e128-e131. PubMed ID: 31574018
[TBL] [Abstract][Full Text] [Related]
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
J Hum Genet; 1999; 44(4):219-24. PubMed ID: 10429359
[TBL] [Abstract][Full Text] [Related]
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
Cancer Lett; 2006 Aug; 239(2):234-8. PubMed ID: 16182441
[TBL] [Abstract][Full Text] [Related]
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
Am J Med Genet A; 2014 Jan; 164A(1):177-81. PubMed ID: 24259107
[TBL] [Abstract][Full Text] [Related]
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
Neurol Sci; 2022 Nov; 43(11):6529-6538. PubMed ID: 35804254
[TBL] [Abstract][Full Text] [Related]
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
Nat Genet; 2004 Nov; 36(11):1159-61. PubMed ID: 15475955
[TBL] [Abstract][Full Text] [Related]
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
Eur J Med Genet; 2020 Nov; 63(11):104044. PubMed ID: 32861809
[TBL] [Abstract][Full Text] [Related]
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
Am J Med Genet A; 2008 Jul; 146A(13):1687-95. PubMed ID: 18548531
[TBL] [Abstract][Full Text] [Related]
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
Nat Genet; 2011 Jun; 43(6):527-9. PubMed ID: 21552266
[TBL] [Abstract][Full Text] [Related]
11. Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer.
Hahn MM; Vreede L; Bemelmans SA; van der Looij E; van Kessel AG; Schackert HK; Ligtenberg MJ; Hoogerbrugge N; Kuiper RP; de Voer RM
Genes Chromosomes Cancer; 2016 Nov; 55(11):855-63. PubMed ID: 27239782
[TBL] [Abstract][Full Text] [Related]
12. Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy.
Suijkerbuijk SJ; van Osch MH; Bos FL; Hanks S; Rahman N; Kops GJ
Cancer Res; 2010 Jun; 70(12):4891-900. PubMed ID: 20516114
[TBL] [Abstract][Full Text] [Related]
13. A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.
Feng B; Chang G; Zhang Q; Li X; Tang Y; Gu S; Wang Y; Wang J; Wang X
Mol Genet Genomic Med; 2022 Jun; 10(6):e1951. PubMed ID: 35434947
[TBL] [Abstract][Full Text] [Related]
14. Nearly complete deletion of BubR1 causes microcephaly through shortened mitosis and massive cell death.
Simmons AJ; Park R; Sterling NA; Jang MH; van Deursen JMA; Yen TJ; Cho SH; Kim S
Hum Mol Genet; 2019 Jun; 28(11):1822-1836. PubMed ID: 30668728
[TBL] [Abstract][Full Text] [Related]
15. BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome.
Sieben CJ; Jeganathan KB; Nelson GG; Sturmlechner I; Zhang C; van Deursen WH; Bakker B; Foijer F; Li H; Baker DJ; van Deursen JM
J Clin Invest; 2020 Jan; 130(1):171-188. PubMed ID: 31738183
[TBL] [Abstract][Full Text] [Related]
16. Biallelic
Carvalhal S; Bader I; Rooimans MA; Oostra AB; Balk JA; Feichtinger RG; Beichler C; Speicher MR; van Hagen JM; Waisfisz Q; van Haelst M; Bruijn M; Tavares A; Mayr JA; Wolthuis RMF; Oliveira RA; de Lange J
Sci Adv; 2022 Jan; 8(3):eabk0114. PubMed ID: 35044816
[TBL] [Abstract][Full Text] [Related]
17. TRIP13 impairs mitotic checkpoint surveillance and is associated with poor prognosis in multiple myeloma.
Tao Y; Yang G; Yang H; Song D; Hu L; Xie B; Wang H; Gao L; Gao M; Xu H; Xu Z; Wu X; Zhang Y; Zhu W; Zhan F; Shi J
Oncotarget; 2017 Apr; 8(16):26718-26731. PubMed ID: 28157697
[TBL] [Abstract][Full Text] [Related]
18. Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.
de Voer RM; Geurts van Kessel A; Weren RD; Ligtenberg MJ; Smeets D; Fu L; Vreede L; Kamping EJ; Verwiel ET; Hahn MM; Ariaans M; Spruijt L; van Essen T; Houge G; Schackert HK; Sheng JQ; Venselaar H; van Ravenswaaij-Arts CM; van Krieken JH; Hoogerbrugge N; Kuiper RP
Gastroenterology; 2013 Sep; 145(3):544-7. PubMed ID: 23747338
[TBL] [Abstract][Full Text] [Related]
19. A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax.
De la Torre-García O; Mar-Aldama R; Salgado-Sangri R; Diaz-Gomez N; Bonilla-Arcaute L; Diaz-Ponce-Medrano J; Guevara-Yañez R; Córdova EJ; Monge-Cazares T; Orozco L; Martínez-Hernández A
Eur J Med Genet; 2019 Mar; 62(3):195-197. PubMed ID: 30010053
[TBL] [Abstract][Full Text] [Related]
20. Gradual reduction of BUBR1 protein levels results in premature sister-chromatid separation then in aneuploidy.
Bohers E; Sarafan-Vasseur N; Drouet A; Paresy M; Latouche JB; Flaman JM; Sesboüé R; Frebourg T
Hum Genet; 2008 Dec; 124(5):473-8. PubMed ID: 18932004
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]