BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

168 related articles for article (PubMed ID: 8533833)

  • 1. Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization.
    Juyal RC; Greenberg F; Mengden GA; Lupski JR; Trask BJ; van den Engh G; Lindsay EA; Christy H; Chen KS; Baldini A
    Am J Med Genet; 1995 Sep; 58(3):286-91. PubMed ID: 8533833
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.
    Juyal RC; Kuwano A; Kondo I; Zara F; Baldini A; Patel PI
    Am J Med Genet; 1996 Dec; 66(2):193-6. PubMed ID: 8958329
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient.
    Juyal RC; Finucane B; Shaffer LG; Lupski JR; Greenberg F; Scott CI; Baldini A; Patel PI
    Am J Med Genet; 1995 Nov; 59(3):406-7. PubMed ID: 8599375
    [No Abstract]   [Full Text] [Related]  

  • 4. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
    Girirajan S; Williams S; Garbern J; Nowak N; Hatchwell E; Elsea S
    Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.
    Schoumans J; Staaf J; Jönsson G; Rantala J; Zimmer KS; Borg A; Nordenskjöld M; Anderlid BM
    Eur J Med Genet; 2005; 48(3):290-300. PubMed ID: 16179224
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.
    Zori RT; Lupski JR; Heju Z; Greenberg F; Killian JM; Gray BA; Driscoll DJ; Patel PI; Zackowski JL
    Am J Med Genet; 1993 Sep; 47(4):504-11. PubMed ID: 8256814
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2.
    Park JP; Moeschler JB; Davies WS; Patel PI; Mohandas TK
    Am J Med Genet; 1998 Apr; 77(1):23-7. PubMed ID: 9557889
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome.
    Finucane BM; Kurtz MB; Babu VR; Scott CI
    Am J Med Genet; 1993 Feb; 45(4):447-9. PubMed ID: 8465848
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
    Potocki L; Chen KS; Park SS; Osterholm DE; Withers MA; Kimonis V; Summers AM; Meschino WS; Anyane-Yeboa K; Kashork CD; Shaffer LG; Lupski JR
    Nat Genet; 2000 Jan; 24(1):84-7. PubMed ID: 10615134
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cytogenetics and fluorescence in-situ hybridization in detection of hematological malignancies.
    Frenny VJ; Antonella Z; Luisa A; Shah AD; Sheth JJ; Rocchi M
    Indian J Cancer; 2003; 40(4):135-9. PubMed ID: 14716109
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q-.
    Mallo M; Arenillas L; Espinet B; Salido M; Hernández JM; Lumbreras E; del Rey M; Arranz E; Ramiro S; Font P; González O; Renedo M; Cervera J; Such E; Sanz GF; Luño E; Sanzo C; González M; Calasanz MJ; Mayans J; García-Ballesteros C; Amigo V; Collado R; Oliver I; Carbonell F; Bureo E; Insunza A; Yañez L; Muruzabal MJ; Gómez-Beltrán E; Andreu R; León P; Gómez V; Sanz A; Casasola N; Moreno E; Alegre A; Martín ML; Pedro C; Serrano S; Florensa L; Solé F
    Haematologica; 2008 Jul; 93(7):1001-8. PubMed ID: 18591625
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 18q- and 18q+ mosaicism in a mentally retarded boy.
    Ausems MG; Bhola SL; Post-Blok CA; Hennekam RC; de France HF
    Am J Med Genet; 1994 Nov; 53(3):296-9. PubMed ID: 7856666
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 116(9):1298-303. PubMed ID: 14527352
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome.
    Estabrooks LL; Rao KW; Korf B
    Am J Med Genet; 1993 Jan; 45(1):97-100. PubMed ID: 8418669
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prenatal diagnosis of interstitial deletion of 17(p11.2p11.2) (Smith-Magenis syndrome).
    Fan YS; Farrell SA
    Am J Med Genet; 1994 Jan; 49(2):253-4. PubMed ID: 8116679
    [No Abstract]   [Full Text] [Related]  

  • 16. Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.
    Goh ES; Banwell B; Stavropoulos DJ; Shago M; Yoon G
    Am J Med Genet A; 2014 Mar; 164A(3):748-52. PubMed ID: 24357149
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2).
    Kondo I; Matsuura S; Kuwajima K; Tokashiki M; Izumikawa Y; Naritomi K; Niikawa N; Kajii T
    Am J Med Genet; 1991 Nov; 41(2):225-9. PubMed ID: 1785639
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 113(4):346-50. PubMed ID: 12457406
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Smith-Magenis syndrome: report of one case.
    Hou JW
    Acta Paediatr Taiwan; 2003; 44(3):161-4. PubMed ID: 14521023
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter).
    Syrrou M; Borghgraef M; Fryns JP
    Am J Med Genet; 2001 Dec; 104(3):199-203. PubMed ID: 11754044
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.