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Results: 1 to 20 of 153

1.

Multiple EWSR1-WT1 and WT1-EWSR1 copies in two cases of desmoplastic round cell tumor.

La Starza R, Barba G, Nofrini V, Pierini T, Pierini V, Marcomigni L, Perruccio K, Matteucci C, Storlazzi CT, Daniele G, Crescenzi B, Giansanti M, Giovenali P, Dal Cin P, Mecucci C.

Cancer Genet. 2013 Nov;206(11):387-92. doi: 10.1016/j.cancergen.2013.10.005. Epub 2013 Nov 4.

PMID:
24388397
[PubMed - indexed for MEDLINE]
2.

Lipodermoid in a patient with Emanuel syndrome.

Glaser TS, Rauen KA, Jeng LJ, de Alba Campomanes AG.

J AAPOS. 2013 Apr;17(2):211-3. doi: 10.1016/j.jaapos.2012.11.011. Epub 2013 Mar 22.

PMID:
23528375
[PubMed - indexed for MEDLINE]
3.

Renal cell carcinoma and a constitutional t(11;22)(q23;q11.2): case report and review of the potential link between the constitutional t(11;22) and cancer.

Doyen J, Carpentier X, Haudebourg J, Hoch B, Karmous-Benailly H, Ambrosetti D, Fabas T, Amiel J, Lambert JC, Pedeutour F.

Cancer Genet. 2012 Nov;205(11):603-7. doi: 10.1016/j.cancergen.2012.09.006. Epub 2012 Oct 30.

PMID:
23117075
[PubMed - indexed for MEDLINE]
4.

Emanuel syndrome due to unusual segregation of paternal origin.

Zaki MS, Mohamed AM, Kamel AK, El-Gerzawy AM, El-Ruby MO.

Genet Couns. 2012;23(2):319-28.

PMID:
22876593
[PubMed - indexed for MEDLINE]
5.

Frequent PVT1 rearrangement and novel chimeric genes PVT1-NBEA and PVT1-WWOX occur in multiple myeloma with 8q24 abnormality.

Nagoshi H, Taki T, Hanamura I, Nitta M, Otsuki T, Nishida K, Okuda K, Sakamoto N, Kobayashi S, Yamamoto-Sugitani M, Tsutsumi Y, Kobayashi T, Matsumoto Y, Horiike S, Kuroda J, Taniwaki M.

Cancer Res. 2012 Oct 1;72(19):4954-62. doi: 10.1158/0008-5472.CAN-12-0213. Epub 2012 Aug 6.

PMID:
22869583
[PubMed - indexed for MEDLINE]
Free Article
6.

Prenatal diagnosis of microdeletion 16p13.11 combination with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly.

Sung PL, Chang CM, Chen CY, Wang PH, Chao KC, Wen KC, Cheng YY, Li YC, Lin CC.

Taiwan J Obstet Gynecol. 2012 Jun;51(2):260-5. doi: 10.1016/j.tjog.2012.04.017.

PMID:
22795105
[PubMed - indexed for MEDLINE]
7.

Prenatal screening characteristics in Emanuel syndrome: a case series and review of the literature.

Walfisch A, Mills KE, Chodirker BN, Berger H.

Arch Gynecol Obstet. 2012 Aug;286(2):299-302. doi: 10.1007/s00404-012-2288-4. Epub 2012 Mar 21. Review.

PMID:
22434056
[PubMed - indexed for MEDLINE]
8.

Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years.

Takahashi I, Takahashi T, Sawada K, Shimojima K, Yamamoto T.

Am J Med Genet A. 2012 Jan;158A(1):220-3. doi: 10.1002/ajmg.a.34382. Epub 2011 Dec 2.

PMID:
22139980
[PubMed - indexed for MEDLINE]
9.

Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings.

Hagen A, Bigl A, Wand D, Klopocki E, Heller R, Siekmeyer M, Siekmeyer W, Kiess W, Merkenschlager A.

Am J Med Genet A. 2011 Dec;155A(12):3075-81. doi: 10.1002/ajmg.a.34300. Epub 2011 Nov 3.

PMID:
22052712
[PubMed - indexed for MEDLINE]
10.

Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes.

Li W, Wang X, Fan W, Zhao P, Chan YC, Chen S, Zhang S, Guo X, Zhang Y, Li Y, Cai J, Qin D, Li X, Yang J, Peng T, Zychlinski D, Hoffmann D, Zhang R, Deng K, Ng KM, Menten B, Zhong M, Wu J, Li Z, Chen Y, Schambach A, Tse HF, Pei D, Esteban MA.

Hum Mol Genet. 2012 Jan 1;21(1):32-45. doi: 10.1093/hmg/ddr435. Epub 2011 Sep 23.

PMID:
21949351
[PubMed - indexed for MEDLINE]
Free Article
11.

Cytogenetic findings in 14 benign cartilaginous neoplasms.

Sakai Junior N, Abe KT, Formigli LM, Pereira MF, de Oliveira MD, Cornelio DA, de La Roque Ferreira A, Kalil RK.

Cancer Genet. 2011 Apr;204(4):180-6. doi: 10.1016/j.cancergen.2011.02.004.

PMID:
21536235
[PubMed - indexed for MEDLINE]
12.

Establishment of a new Glivec-resistant chronic myeloid leukemia cell line, SNUCML-02, using an in vivo model.

Park J, Kim KI, Koh Y, Won NH, Oh JM, Lee DS, Kim BK, Ahn KS, Yoon SS.

Exp Hematol. 2010 Sep;38(9):773-81. doi: 10.1016/j.exphem.2010.04.012. Epub 2010 May 21.

PMID:
20438801
[PubMed - indexed for MEDLINE]
13.

Increasing role of cytogenetics in pediatric practice.

Dayakar S, Rani DS, Babu SJ, Srilatha K, Jayanthi U, Goud KI, Jain D, Raina V.

Genet Test Mol Biomarkers. 2010 Apr;14(2):197-204. doi: 10.1089/gtmb.2009.0098.

PMID:
20384456
[PubMed - indexed for MEDLINE]
14.

Multiplex fluorescence in situ hybridization in identifying chromosome involvement of complex karyotypes in de novo myelodysplastic syndromes and acute myeloid leukemia.

Xu W, Li JY, Liu Q, Zhu Y, Pan JL, Qiu HR, Xue YQ.

Int J Lab Hematol. 2010 Feb;32(1 Pt 1):e86-95. doi: 10.1111/j.1751-553X.2008.01101.x. Epub 2008 Oct 13.

PMID:
20089000
[PubMed - indexed for MEDLINE]
15.

Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.

Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM.

Am J Med Genet A. 2009 Aug;149A(8):1712-21. doi: 10.1002/ajmg.a.32957.

PMID:
19606488
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome.

Gremeau AS, Coste K, Blanc P, Goumy C, Francannet C, Dechelotte PJ, Vago P, Laurichesse-Delmas H, Labbe A, Lemery D, Sapin V, Gallot D.

Prenat Diagn. 2009 Aug;29(8):816-8. doi: 10.1002/pd.2289. No abstract available.

PMID:
19434659
[PubMed - indexed for MEDLINE]
17.

Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome.

Toyoshima M, Yonee C, Maegaki Y, Yamamoto T, Shimojima K, Maruyama S, Kawano Y.

Am J Med Genet A. 2009 Aug;149A(8):1722-6. doi: 10.1002/ajmg.a.32762.

PMID:
19353589
[PubMed - indexed for MEDLINE]
18.

Cytogenetic analysis in childhood acute lymphoblastic leukemia: experience at a single institution in Korea.

Kwon YJ, Lee JW, Kim MS, Jang PS, Chung NG, Jeong DC, Kim YG, Han KJ, Lee SJ, Cho B, Kim HK.

Int J Hematol. 2009 Mar;89(2):150-8. doi: 10.1007/s12185-008-0231-z. Epub 2008 Dec 25.

PMID:
19109731
[PubMed - indexed for MEDLINE]
19.

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.

Emanuel BS.

Dev Disabil Res Rev. 2008;14(1):11-8. doi: 10.1002/ddrr.3. Review.

PMID:
18636632
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features.

Yosunkaya Fenerci E, Guven GS, Kuru D, Yilmaz S, Tarkan-Argüden Y, Cirakoglu A, Deviren A, Yüksel A, Hacihanefioğlu S.

Genet Couns. 2007;18(4):401-8.

PMID:
18286821
[PubMed - indexed for MEDLINE]

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