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Results: 1 to 20 of 91

1.

Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male.

Nik-Zainal S, Cotter PE, Willatt LR, Abbott K, O'Brien EW.

Eur J Med Genet. 2011 Jan-Feb;54(1):97-101. doi: 10.1016/j.ejmg.2010.09.014. Epub 2010 Oct 8.

PMID:
20933620
[PubMed - indexed for MEDLINE]
2.

Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.

Knijnenburg J, van Haeringen A, Hansson KB, Lankester A, Smit MJ, Belfroid RD, Bakker E, Rosenberg C, Tanke HJ, Szuhai K.

Eur J Hum Genet. 2007 May;15(5):548-55. Epub 2007 Mar 7.

PMID:
17342151
[PubMed - indexed for MEDLINE]
Free Article
3.

Mosaic ring 12p and total anomalous pulmonary venous return.

Harris DL, Siu BL, Hummel M, Harbert K, Senft J, Sargent L, Wenger SL.

Am J Med Genet A. 2004 Nov 15;131(1):91-3.

PMID:
15389698
[PubMed - indexed for MEDLINE]
4.

High von Willebrand factor levels increase the risk of first ischemic stroke: influence of ADAMTS13, inflammation, and genetic variability.

Bongers TN, de Maat MP, van Goor ML, Bhagwanbali V, van Vliet HH, Gómez García EB, Dippel DW, Leebeek FW.

Stroke. 2006 Nov;37(11):2672-7. Epub 2006 Sep 21.

PMID:
16990571
[PubMed - indexed for MEDLINE]
Free Article
5.

First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation.

Dupont C, Lebbar A, Teinturier C, Baverel F, Viot G, Le Tessier D, Le Bozec J, Cuisset L, Dupont JM.

Am J Med Genet A. 2007 Jun 1;143A(11):1236-43.

PMID:
17497716
[PubMed - indexed for MEDLINE]
6.

The Sma I polymorphism in the von Willebrand factor gene associated with acute ischemic stroke.

Dai K, Gao W, Ruan C.

Thromb Res. 2001 Dec 15;104(6):389-95.

PMID:
11755948
[PubMed - indexed for MEDLINE]
7.

De novo inverted duplication 9p21pter involving telomeric repeated sequences.

Sanlaville D, Baumann C, Lapierre JM, Romana S, Collot N, Cacheux V, Turleau C, Tachdjian G.

Am J Med Genet. 1999 Mar 12;83(2):125-31. Review.

PMID:
10190483
[PubMed - indexed for MEDLINE]
8.

FISH mapping of the porcine vWF gene to chromosome 5q21 extends synteny homology with human chromosome 12.

Sjöberg A, Seaman WT, Bellinger DA, Griggs TR, Nichols TC, Chowdhary BP.

Hereditas. 1996;124(2):199-202. No abstract available.

PMID:
8782436
[PubMed - indexed for MEDLINE]
9.

Cryptic duplication of 12q24.33 --> qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events.

Sathanoori M, Hu J, Murthy V, Byrnes A, Vockley J, Safier R, Bedoyan J, Jalal SM, Huber H, Surti U.

Am J Med Genet A. 2007 May 1;143A(9):985-94.

PMID:
17394213
[PubMed - indexed for MEDLINE]
10.

Genome-wide linkage analysis of von Willebrand factor plasma levels: results from the GAIT project.

Souto JC, Almasy L, Soria JM, Buil A, Stone W, Lathrop M, Blangero J, Fontcuberta J.

Thromb Haemost. 2003 Mar;89(3):468-74.

PMID:
12624629
[PubMed - indexed for MEDLINE]
11.

Variation in the von Willebrand factor gene is associated with von Willebrand factor levels and with the risk for cardiovascular disease.

van Schie MC, de Maat MP, Isaacs A, van Duijn CM, Deckers JW, Dippel DW, Leebeek FW.

Blood. 2011 Jan 27;117(4):1393-9. doi: 10.1182/blood-2010-03-273961. Epub 2010 Oct 12.

PMID:
20940418
[PubMed - indexed for MEDLINE]
Free Article
12.

Supernumerary ring chromosome in a Bednar tumor (pigmented dermatofibrosarcoma protuberans) is composed of interspersed sequences from chromosomes 17 and 22: a fluorescence in situ hybridization and comparative genomic hybridization analysis.

Nishio J, Iwasaki H, Ishiguro M, Ohjimi Y, Yo S, Isayama T, Naito M, Kikuchi M.

Genes Chromosomes Cancer. 2001 Mar;30(3):305-9.

PMID:
11170290
[PubMed - indexed for MEDLINE]
13.

Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction.

Mancuso DJ, Tuley EA, Westfield LA, Lester-Mancuso TL, Le Beau MM, Sorace JM, Sadler JE.

Biochemistry. 1991 Jan 8;30(1):253-69.

PMID:
1988024
[PubMed - indexed for MEDLINE]
14.

Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome.

Ausems MG, Schuil J, Van Raveswaaij-Arts C, De Pater JM.

Genet Couns. 2004;15(4):405-10.

PMID:
15658615
[PubMed - indexed for MEDLINE]
15.

Molecular genetics of type 2 von Willebrand disease.

Fressinaud E, Mazurier C, Meyer D.

Int J Hematol. 2002 Jan;75(1):9-18. Review.

PMID:
11843298
[PubMed - indexed for MEDLINE]
16.

De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23).

Jiang YH, Martinez JE, Ou Z, Cooper ML, Kang SH, Pursley A, Cheung SW.

Am J Med Genet A. 2008 Aug 1;146A(15):1986-93. doi: 10.1002/ajmg.a.32408.

PMID:
18627051
[PubMed - indexed for MEDLINE]
17.

U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements.

Rowe LR, Lee JY, Rector L, Kaminsky EB, Brothman AR, Martin CL, South ST.

J Med Genet. 2009 Oct;46(10):694-702. doi: 10.1136/jmg.2008.065052. Epub 2009 Mar 16.

PMID:
19293169
[PubMed - indexed for MEDLINE]
18.

Molecular genetics of von Willebrand disease.

Mazurier C, Ribba AS, Gaucher C, Meyer D.

Ann Genet. 1998;41(1):34-43. Review.

PMID:
9599650
[PubMed - indexed for MEDLINE]
19.

Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46,X,t(X;22)(pter;q11.21) translocation.

Patracchini P, Calzolari E, Aiello V, Palazzi P, Banin P, Marchetti G, Bernardi F.

Hum Genet. 1989 Oct;83(3):264-6.

PMID:
2793170
[PubMed - indexed for MEDLINE]
20.

Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.

DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, Krantz ID.

Am J Med Genet A. 2005 Sep 1;137A(3):276-82. Review.

PMID:
16075459
[PubMed - indexed for MEDLINE]

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