Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 172

1.

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 1;146A(13):1687-95. doi: 10.1002/ajmg.a.32315. Review.

PMID:
18548531
2.

Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome.

Matsuura S, Matsumoto Y, Morishima K, Izumi H, Matsumoto H, Ito E, Tsutsui K, Kobayashi J, Tauchi H, Kajiwara Y, Hama S, Kurisu K, Tahara H, Oshimura M, Komatsu K, Ikeuchi T, Kajii T.

Am J Med Genet A. 2006 Feb 15;140(4):358-67.

PMID:
16411201
3.

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 8;239(2):234-8. Epub 2005 Sep 22.

PMID:
16182441
4.

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. Epub 2004 Oct 10.

5.

Mosaic variegated aneuploidy without microcephaly: implications for cytogenetic diagnosis.

Micale MA, Schran D, Emch S, Kurczynski TW, Rahman N, Van Dyke DL.

Am J Med Genet A. 2007 Aug 15;143A(16):1890-3.

PMID:
17632782
6.

Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome.

Callier P, Faivre L, Cusin V, Marle N, Thauvin-Robinet C, Sandre D, Rousseau T, Sagot P, Lacombe E, Faber V, Mugneret F.

Am J Med Genet A. 2005 Aug 30;137(2):204-7. Review.

PMID:
16059936
7.

Mosaic variegated aneuploidy with multiple congenital abnormalities: homozygosity for total premature chromatid separation trait.

Kajii T, Kawai T, Takumi T, Misu H, Mabuchi O, Takahashi Y, Tachino M, Nihei F, Ikeuchi T.

Am J Med Genet. 1998 Jul 7;78(3):245-9.

PMID:
9677059
8.

Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: report of five infants.

Kajii T, Ikeuchi T, Yang ZQ, Nakamura Y, Tsuji Y, Yokomori K, Kawamura M, Fukuda S, Horita S, Asamoto A.

Am J Med Genet. 2001 Nov 15;104(1):57-64. Review.

PMID:
11746029
9.

Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia.

Rio Frio T, Lavoie J, Hamel N, Geyer FC, Kushner YB, Novak DJ, Wark L, Capelli C, Reis-Filho JS, Mai S, Pastinen T, Tischkowitz MD, Marcus VA, Foulkes WD.

N Engl J Med. 2010 Dec 30;363(27):2628-37. doi: 10.1056/NEJMoa1006565.

10.

Variegated-like mosaicism and ring syndrome in a r(4) boy. Appraisal of 38 patients with a fairly complete ring 4.

Domínguez MG, Barros-Núñez P, González-Ramos IA, Rivera H.

Genet Couns. 2010;21(4):411-22. Erratum in: Genet Couns. 2011;22(1):85.

PMID:
21290971
11.

Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic-spindle checkpoint.

Matsuura S, Ito E, Tauchi H, Komatsu K, Ikeuchi T, Kajii T.

Am J Hum Genet. 2000 Aug;67(2):483-6. Epub 2000 Jun 30.

12.

Refractory infantile spasms associated with mosaic variegated aneuploidy syndrome.

Akasaka N, Tohyama J, Ogawa A, Takachi T, Watanabe A, Asami K.

Pediatr Neurol. 2013 Nov;49(5):364-7. doi: 10.1016/j.pediatrneurol.2013.05.014. Epub 2013 Aug 2.

PMID:
23916859
13.

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. doi: 10.1002/ajmg.a.36166. Epub 2013 Nov 20.

PMID:
24259107
14.

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. doi: 10.1007/s00439-008-0572-y. Epub 2008 Oct 19.

PMID:
18932004
15.

TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome.

Ochiai H, Miyamoto T, Kanai A, Hosoba K, Sakuma T, Kudo Y, Asami K, Ogawa A, Watanabe A, Kajii T, Yamamoto T, Matsuura S.

Proc Natl Acad Sci U S A. 2014 Jan 28;111(4):1461-6. doi: 10.1073/pnas.1317008111. Epub 2013 Dec 16.

16.

Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome.

Lenz P, Luetjens CM, Kamischke A, Kühnert B, Kennerknecht I, Nieschlag E.

Hum Reprod. 2005 May;20(5):1248-55. Epub 2005 Jan 21.

PMID:
15665007
17.
18.

Aneuploidy-cancer predisposition syndromes: a new link between the mitotic spindle checkpoint and cancer.

Hanks S, Rahman N.

Cell Cycle. 2005 Feb;4(2):225-7. Epub 2005 Feb 3.

PMID:
15655355
19.

Double aneuploidy in three Egyptian patients: Down-Turner and Down-Klinefelter syndromes.

Zaki MS, Kamel AA, El-Ruby M.

Genet Couns. 2005;16(4):393-402.

PMID:
16440882
20.

A case report of a fetus with mosaic autosomal variegated aneuploidies and literature review.

Cho CH, Oh MJ, Lim CS, Lee CK, Cho Y, Yoon SY.

Ann Clin Lab Sci. 2015 Winter;45(1):106-9. Review.

PMID:
25696020

Supplemental Content

Support Center