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Gene Mapping
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Aerssens J, Guo C, Vermeesch J, et al. A physical map of the region spanning the chromosome 12 translocation breakpoint in a mesothelioma with a t(X;12)(q22;p13). Cytogenet Cell Genet 1995; 71:268-275.
Albig W, Ebentheuer J, Klobeck G, Kunz J, Doenecke D. A solitary human H3 histone gene on chromosome 1. Human Genetics 1996; 97:486-491.
Allen TL, Brothman AR, Carey JC, Chance PF. Cytogenetic and molecular analysis in trisomy 12p. [Review] [33 refs]. American Journal of Medical Genetics 1996; 63:250-256.
Ariyama T, Hasegawa K, Inazawa J, et al. Assignment of the human protein tyrosine phosphatase, receptor-type, zeta (PTPRZ) gene to chromosome band 7q31.3. Cytogenet Cell Genet 1995; 70:52-54.
Ariyama T, Kimura T, Yamakawa K, Nakamura Y, Abe T, Inazawa J. Precise ordering of 26 cosmid markers on chromosome region 3p23-->p21.3 by two-color FISH on human prophase chromosomes and stretched DNAs. Cytogenet Cell Genet 1995; 70:129-133.
Bergenhem NC, Sait SS, Eddy RL, Shows TB, Tashian RE. Assignment of the gene for human carbonic anhydrase VIII(CA8) to chromosome 8q11-->q12. Cytogenet Cell Genet 1995; 71:299-300.
Blennow E, Bui TH, Wallin A, Kogner P. Monosomy 1p36.31-33-->pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis. [Review] [30 refs]. American Journal of Medical Genetics 1996; 65:60-67.
Blennow E, Tillberg E. Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH. [Review] [30 refs]. Journal of Medical Genetics 1996; 33:399-402.
Browne CE, Dennis NR, Maher E, et al. Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. American Journal of Human Genetics 1997; 61:1342-1352.
Byrne PC, Shipley JM, Chave KJ, Sanders PG, Snell K. Characterisation of a human serine hydroxymethyltransferase pseudogene and its localisation to 1p32.3-33. Human Genetics 1996; 97:340-344.
Calabrese G, Sures I, Pompetti F, Natoli G, Palka G, Iacobelli S. The gene (LGALS3BP) encoding the serum protein 90K, associated with cancer and infection by the human immunodeficiency virus, maps at 17q25. Cytogenet Cell Genet 1995; 69:223-225.
Carow CE, Kim E, Hawkins AL, et al. Localization of the human stem cell tyrosine kinase-1 gene (FLT3) to 13q12-->q13. Cytogenet Cell Genet 1995; 70:255-257.
Chaffanet M, Baens M, Aerssens J, Schoenmakers E, Cassiman JJ, Marynen P. Mapping of an ordered set of 14 cosmids to human chromosome 12p by two-color
in situ
hybridization. Cytogenet Cell Genet 1995; 69:27-32.
Chaffanet M, Imbert A, Adelaide J, et al. A 3.1-Mb YAC contig within the Werner syndrome region, on the short arm of human chromosome 8. Cytogenet Cell Genet 1996; 72:63-68.
Chen Z, Grebe TA, Guan XY, et al. Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection. American Journal of Medical Genetics 1997; 71:160-166.
Cleton-Jansen AM, Moerland HW, Callen DF, Doggett NA, Devilee P, Cornelisse CJ. Mapping of the breast basic conserved gene (D16S444E) to human chromosome band 16q24.3. Cytogenet Cell Genet 1995; 68:49-51.
Cook EH,Jr., Lindgren V, Leventhal BL, et al. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. American Journal of Human Genetics 1997; 60:928-934.
Crolla JA, Cawdery JE, Oley CA, et al. A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. Journal of Medical Genetics 1997; 34:207-212.
Crolla JA, Cross I, Atkey N, Wright M, Oley CA. FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13). Journal of Medical Genetics 1996; 33:66-68.
Crolla JA, Howard P, Mitchell C, Long FL, Dennis NR. A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes. American Journal of Medical Genetics 1997; 72:440-447.
Crolla JA, Long F, Rivera H, Dennis NR. FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases. American Journal of Medical Genetics 1998; 75:355-366.
Demetrick DJ, Matsumoto S, Hannon GJ, et al. Chromosomal mapping of the genes for the human cell cycle proteins cyclin C (CCNC), cyclin E (CCNE), p21 (CDKN1) and KAP (CDKN3). Cytogenet Cell Genet 1995; 69:190-192.
Desmaze C, Aurias A.
in situ
hybridization of fluorescent probes on chromosomes, nuclei or stretched DNA: applications in physical mapping and characterization of genomic rearrangements. Cell Mol Biol (Noisy-le-grand) 1995; 41:925-931.
Devriendt K, Petit P, Matthijs G, et al. Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome. Journal of Medical Genetics 1997; 34:395-399.
Dizikes GJ, Bennett JS, Metz RJ, Nawrocki JF. The lymphoid proliferation-associated gene EPAG maps to human chromosome region Xq21-->q22. Cytogenet Cell Genet 1995; 70:126-128.
Dreyling MH, Bohlander SK, Le Beau MM, Olopade OI. Refined mapping of genomic rearrangements involving the short arm of chromosome 9 in acute lymphoblastic leukemias and other hematologic malignancies. Blood 1995; 86:1931-1938.
George ALJ, Varkony TA, Drabkin HA, et al. Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3p21. Cytogenet Cell Genet 1995; 68:67-70.
Ghaffari SR, Boyd E, Tolmie JL, Crow YJ, Trainer AH, Connor JM. A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation. J Med Genet 1998;35:225-233.
Giannini C, Scheithauer BW, Jenkins RB, et al. Soft-tissue perineurioma. Evidence for an abnormality of chromosome 22, criteria for diagnosis, and review of the literature. [Review] [45 refs]. American Journal of Surgical Pathology 1997; 21:164-173.
Gustavsson P, Skeppner G, Johansson B, et al. Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation. Journal of Medical Genetics 1997; 34:779-782.
Gustavsson P, Willing TN, van Haeringen A, et al. Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb. Nature Genetics 1997; 16:368-371.
Haaf T, Sirugo G, Kidd KK, Ward DC. Chromosomal localization of long trinucleotide repeats in the human genome by fluorescence
in situ
hybridization. Nat Genet 1996; 12:183-185.
Haddad B, Antonacci R, Rizzu P, et al. Mapping segmental imbalances using comparative genomic hybridization and eigenanalysis. Cytogenet Cell Genet 1995; 71:276-279.
Hegmann KM, Spikes AS, Orr-Urtreger A, Shaffer LG. Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings. American Journal of Medical Genetics 1996; 61:10-15.
Hoban PR, Cowen RL, Mitchell EL, et al. Physical localisation of the breakpoints of a constitutional translocation t(5;6)(q21;q21) in a child with bilateral Wilms' tumour. Journal of Medical Genetics 1997; 34:343-345.
Jalal SM, Dahl R, Erickson L, Zimmerman D, Lindor N. Cytogenetic and clinical characteristics of a case involving complete duplication of Xpter-->Xq13. Journal of Medical Genetics 1996; 33:237-239.
Kempski H, MacDonald D, Michalski AJ, et al. Localization of the 8;13 translocation breakpoint associated with myeloproliferative disease to a 1.5 Mbp region of chromosome 13. Genes Chromosomes Cancer 1995; 12:283-287.
Klanke CA, Su YR, Callen DF, et al. Molecular cloning and physical and genetic mapping of a novel human Na+/H+ exchanger (NHE5/SLC9A5) to chromosome 16q22.1. Genomics1995; 25:615-622.
Knowlton RG, Cekleniak JA, Cohn DH, et al. High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12. Genomics 1995; 28:513-519.
Koyama K, Fukushima Y, Inazawa J, Tomotsune D, Takahashi N, Nakamura Y. The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2. Cytogenet Cell Genet 1996; 72:78-82.
Kozyraki R, Kristiansen M, Silahtaroglu A, Hansen C, Jacobsen C, Tommerup N, Verroust PJ, Moestrup SK. The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region. Blood 1998;91:3593-3600.
Krozowski Z, Baker E, Obeyesekere V, Callen DF. Localization of the gene for human 11 beta-hydroxysteroid dehydrogenase type 2 (HSD11B2) to chromosome band 16q22. Cytogenet Cell Genet 1995; 71:124-125.
Kudoh J, Wang Y, Minoshima S, et al. Localization of the human AHNAK/desmoyokin gene (AHNAK) to chromosome band 11q12 by somatic cell hybrid analysis and fluorescence
in situ
hybridization. Cytogenet Cell Genet 1995; 70:218-220.
Kuo WL, Stafford DW, Cruces J, Gray J, Solera J. Chromosomal localization of the gamma-glutamyl carboxylase gene at 2p12. Genomics 1995; 25:746-748.
Legius E, Wlodarska I, Selleri L, et al. De novo 46,XX, dir dup (11)(q133.3-->q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia. Clinical Genetics 1996; 49:206-210.
Levitt RC, Liu Z, Nouri N, Meyers DA, Brandriff B, Mohrenweiser HM. Mapping of the gene for hormone sensitive lipase (LIPE) to chromosome 19q13.1-->q13.2. Cytogenet Cell Genet 1995; 69:211-214.
Ludecke HJ, Wagner MJ, Nardmann J, et al. Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. Hum Mol Genet 1995; 4:31-36.
Michaelis SC, Bardenheuer W, Lux A, et al. Characterization and chromosomal assignment of yeast artificial chromosomes containing human 3p13-p21-specific sequence tagged sites. Cancer Genet Cytogenet 1995; 81:1-12.
Mitchell EL, Jones D, White GR, Varley JM, Santibanez Koref MF. Determination of the gene order of the three loci CD2, NGFB, and NRAS at human chromosome band 1p13 and refinement of their localisation at the subband level by fluorescence
in situ
hybridisation [published erratum appears in Cytogenet Cell Genet 1995;71(3):306]. Cytogenet Cell Genet 1995; 70:183-185.
Modi WS, Farrar WL, Howard OM. Confirmed assignment of a novel human tyrosine kinase gene (JAK1A) to 1p32.3-->p31.3 by nonisotopic
in situ
hybridization. Cytogenet Cell Genet 1995; 69:232-234.
Nordgren A, Arver S, Kvist U, Carter N, Blennow E. Trisomy 5q12-->q13.3 in a patient with add(13q): characterization of an interchromosomal insertion by forward and reverse chromosome painting. American Journal of Medical Genetics 1997; 73:351-355.
Oda T, Elkahloun AG, Pike BL, et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome [see comments]. Nature Genetics 1997; 16:235-242.
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