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1q partial trisomy syndrome相关文献:
Partial trisomy 1q syndrome.
Rehder H, Friedrich U.
Clin Genet. 1979 Jun;15(6):534-40. doi: 10.1111/j.1399-0004.1979.tb00838.x.
PMID:466853
Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome.
Emberger W, Petek E, Kroisel PM, Zierler H, Wagner K.
Am J Med Genet. 2001 Dec 15;104(4):312-8. doi: 10.1002/ajmg.10096.
PMID:11754067
Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia.
Silva ML, Pombo-de-Oliveira MS, Raimondi SC, Mkrtchyan H, Abdelhay E, de Figueiredo AF, de Souza MT, Garcia DR, de Ventura EM, de Sousa AM, Liehr T.
Mol Cytogenet. 2009 Feb 19;2:7. doi: 10.1186/1755-8166-2-7.
PMID:19228396
Myeloproliferative disorders.
Bench AJ, Cross NC, Huntly BJ, Nacheva EP, Green AR.
Best Pract Res Clin Haematol. 2001 Sep;14(3):531-51. doi: 10.1053/beha.2001.0153.
PMID:11640868
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.
Watanabe S, Shimizu K, Ohashi H, Kosaki R, Okamoto N, Shimojima K, Yamamoto T, Chinen Y, Mizuno S, Dowa Y, Shiomi N, Toda Y, Tashiro K, Shichijo K, Minatozaki K, Aso S, Minagawa K, Hiraki Y, Shimokawa O, Matsumoto T, Fukuda M, Moriuchi H, Yoshiura K, Kondoh T.
Am J Med Genet A. 2016 Apr;170A(4):908-17. doi: 10.1002/ajmg.a.37496. Epub 2016 Jan 18.
PMID:26782913
Partial 1q Duplications and Associated Phenotype.
Morris ML, Baroneza JE, Teixeira P, Medina CT, Cordoba MS, Versiani BR, Roese LL, Freitas EL, Fonseca AC, Dos Santos MC, Pic-Taylor A, Rosenberg C, Oliveira SF, Ferrari I, Mazzeu JF.
Mol Syndromol. 2016 Feb;6(6):297-303. doi: 10.1159/000443599. Epub 2016 Feb 4.
PMID:27022331
Distal partial trisomy 1q: report of two cases and a review of the literature.
Utine GE, Aktas D, Alanay Y, Gücer S, Tuncbilek E, Mrasek K, Liehr T.
Prenat Diagn. 2007 Sep;27(9):865-71. doi: 10.1002/pd.1788.
PMID:17605151
The distal partial trisomy 1q syndrome and dystonic tremor.
Oyama G, Rodriguez RL, Fernandez HH, Jacobson CE 4th, Ong TL, Hwynn N, Malaty IA, Okun MS.
Parkinsonism Relat Disord. 2011 Feb;17(2):128-9. doi: 10.1016/j.parkreldis.2010.10.004. Epub 2010 Nov 1.
PMID:21044857
Partial trisomy 1q, an uncommon chromosomal aberration in erythroleukemia.
Baumgarten E, Wegner RD, Fengler R, Koch H, Henze G.
Leuk Lymphoma. 1993 Jun;10(3):237-40. doi: 10.3109/10428199309145889.
PMID:8220123
Partial trisomy 1q41 syndrome delineated by whole genomic array comparative genome hybridization.
Shin YB, Nam SO, Seo EJ, Kim HH, Chang CL, Lee EY, Son HC, Hwang SH.
J Korean Med Sci. 2008 Dec;23(6):1097-101. doi: 10.3346/jkms.2008.23.6.1097. Epub 2008 Dec 24.
PMID:19119457
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