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Journal Abstract Search

197 related items for PubMed ID: 9129746

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  • 3. Construction of an integrated physical and gene map of human chromosome 20p12 providing candidate genes for Alagille syndrome.
    Pollet N, Boccaccio C, Dhorne-Pollet S, Driancourt C, Raynaud N, Auffray C, Hadchouel M, Meunier-Rotival M.
    Genomics; 1997 Jun 15; 42(3):489-98. PubMed ID: 9205123
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  • 7. Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.
    Rand EB, Spinner NB, Piccoli DA, Whitington PF, Taub R.
    Am J Hum Genet; 1995 Nov 15; 57(5):1068-73. PubMed ID: 7485156
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  • 9. Alagille syndrome.
    Krantz ID, Piccoli DA, Spinner NB.
    J Med Genet; 1997 Feb 15; 34(2):152-7. PubMed ID: 9039994
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  • 10. [Liver cell carcinoma as a late complication of Alagille syndrome (arterio-hepatic dysplasia)].
    Wegmann W, Evison J, Schaub N, Kist L, Vest M.
    Leber Magen Darm; 1996 May 15; 26(3):157-8, 161-3. PubMed ID: 8709830
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  • 11. Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 20p (20p12-p13) encompassing JAG1 and a literature review of prenatal diagnosis of Alagille syndrome.
    Chen CP, Yin CS, Wang LK, Chern SR, Chen SW, Lai ST, Wu PS, Chen WL, Wang W.
    Taiwan J Obstet Gynecol; 2017 Jun 15; 56(3):390-393. PubMed ID: 28600057
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  • 12. Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130.
    Basson CT, MacRae CA, Schoenberg-Fejzo M, Morton CC, Spinner NB, Genin A, Krug E, Seidman JG, Seidman CE.
    Genomics; 1996 Aug 01; 35(3):628-31. PubMed ID: 8812507
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  • 13. A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome.
    Le Gloan L, Pichon O, Isidor B, Boceno M, Rival JM, David A, Le Caignec C.
    Eur J Med Genet; 2008 Aug 01; 51(6):651-7. PubMed ID: 18775522
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  • 14. Chromosomal changes detected by fluorescence in situ hybridization in patients with acute lymphoblastic leukemia.
    Zhang L, Parkhurst JB, Kern WF, Scott KV, Niccum D, Mulvihill JJ, Li S.
    Chin Med J (Engl); 2003 Sep 01; 116(9):1298-303. PubMed ID: 14527352
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  • 15. Mapping of microsatellite markers in the Alagille region and screening of microdeletions by genotyping 23 patients.
    Deleuze JF, Hazan J, Dhorne S, Weissenbach J, Hadchouel M.
    Eur J Hum Genet; 1994 Sep 01; 2(3):185-90. PubMed ID: 7834278
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  • 16. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.
    Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB.
    Nat Genet; 1997 Jul 01; 16(3):243-51. PubMed ID: 9207788
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  • 17. Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family.
    Hol FA, Hamel BC, Geurds MP, Hansmann I, Nabben FA, Daniëls O, Mariman EC.
    Hum Genet; 1995 Jun 01; 95(6):687-90. PubMed ID: 7789956
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  • 18. Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.
    Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA.
    BMC Med Genet; 2004 Jun 25; 5():17. PubMed ID: 15219231
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  • 19. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
    Berend SA, Spikes AS, Kashork CD, Wu JM, Daw SC, Scambler PJ, Shaffer LG.
    Am J Med Genet; 2000 Apr 10; 91(4):313-7. PubMed ID: 10766989
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  • 20. Apparently unrelated cytogenetic abnormalities among 462 probands referred for the detection of del(22q) by FISH.
    Smith A, St Heaps L, Robson L.
    Am J Med Genet; 2002 Dec 15; 113(4):346-50. PubMed ID: 12457406
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