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Journal Abstract Search

814 related items for PubMed ID: 10528241

  • 1. Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH.
    Sukumar S, Wang S, Hoang K, Vanchiere CM, England K, Fick R, Pagon B, Reddy KS.
    Am J Med Genet; 1999 Nov 05; 87(1):17-22. PubMed ID: 10528241
    [Abstract] [Full Text] [Related]

  • 2. Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3.
    Meng J, Fujita H, Nagahara N, Kashiwai A, Yoshioka Y, Funato M.
    Am J Med Genet; 1992 Jul 01; 43(4):747-50. PubMed ID: 1621768
    [Abstract] [Full Text] [Related]

  • 3. Report of two cases of distal deletion of the long arm of chromosome 6.
    Stevens CA, Fineman RM, Breg WR, Silken AB.
    Am J Med Genet; 1988 Apr 01; 29(4):807-14. PubMed ID: 3400725
    [Abstract] [Full Text] [Related]

  • 4. Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).
    Callier P, Faivre L, Marle N, Thauvin-Robinet C, Mosca AL, Masurel-Paulet A, Borgnon J, Falcon-Eicher S, Danino A, Malka G, Le Merrer M, Huet F, Mugneret F.
    Eur J Med Genet; 2007 Apr 01; 50(6):455-64. PubMed ID: 17720646
    [Abstract] [Full Text] [Related]

  • 5. New insights into the phenotypes of 6q deletions.
    Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Saal HM.
    Am J Med Genet; 1997 Jun 27; 70(4):377-86. PubMed ID: 9182778
    [Abstract] [Full Text] [Related]

  • 6. A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome.
    Gorski JL, Uhlmann WR, Glover TW.
    Am J Med Genet; 1990 Dec 27; 37(4):471-4. PubMed ID: 2260590
    [Abstract] [Full Text] [Related]

  • 7. Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation.
    Mdzin R, Ko C, Abdul Latif Z, Zakaria Z.
    Singapore Med J; 2008 Nov 27; 49(11):e336-9. PubMed ID: 19037546
    [Abstract] [Full Text] [Related]

  • 8. An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion.
    Kara N, Okten G, Guneş SO, Saglam Y, Tasdemir HA, Pinarli FA.
    Epilepsy Res; 2008 Aug 27; 80(2-3):219-23. PubMed ID: 18485670
    [Abstract] [Full Text] [Related]

  • 9. Interstitial 6q duplication in an adult male without growth delay or severe mental retardation.
    Cappon SL, Duncan AM, Khalifa MM.
    Med Sci Monit; 2000 Aug 27; 6(3):581-5. PubMed ID: 11208374
    [Abstract] [Full Text] [Related]

  • 10. Chromosome 6q deletions: a report of two additional cases and a review of the literature.
    McLeod DR, Fowlow SB, Robertson A, Samcoe D, Burgess I, Hoo JJ.
    Am J Med Genet; 1990 Jan 27; 35(1):79-84. PubMed ID: 2405671
    [Abstract] [Full Text] [Related]

  • 11. 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.
    Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, Romano C, Majore S, Grammatico P, Zara F, Striano S, Faravelli F.
    Epilepsia; 2006 May 27; 47(5):830-8. PubMed ID: 16686647
    [Abstract] [Full Text] [Related]

  • 12. A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies.
    Werner W, Kraft S, Callen DF, Bartsch O, Hinkel GK.
    Am J Med Genet; 1997 Jun 27; 70(4):371-6. PubMed ID: 9182777
    [Abstract] [Full Text] [Related]

  • 13. De novo interstitial deletion q16.2q21 on chromosome 6.
    Villa A, Urioste M, Bofarull JM, Martínez-Frías ML.
    Am J Med Genet; 1995 Jan 30; 55(3):379-83. PubMed ID: 7726240
    [Abstract] [Full Text] [Related]

  • 14. Interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3)).
    Mattia FR, Wardinsky TD, Tuttle DJ, Grix A, Smith KA, Walling P.
    Am J Med Genet; 1992 Nov 15; 44(5):551-4. PubMed ID: 1481806
    [Abstract] [Full Text] [Related]

  • 15. Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)--case report and review of the literature.
    Kehrer-Sawatzki H, Daumiller E, Müller-Navia J, Kendziorra H, Rossier E, du Bois G, Barbi G.
    Prenat Diagn; 2005 Oct 15; 25(10):954-9. PubMed ID: 16088867
    [Abstract] [Full Text] [Related]

  • 16. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
    Bremer A, Schoumans J, Nordenskjöld M, Anderlid BM, Giacobini M.
    Eur J Med Genet; 2009 Oct 15; 52(5):358-62. PubMed ID: 19576304
    [Abstract] [Full Text] [Related]

  • 17. Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).
    Shimojima K, Páez MT, Kurosawa K, Yamamoto T.
    Brain Dev; 2009 Sep 15; 31(8):629-33. PubMed ID: 18835671
    [Abstract] [Full Text] [Related]

  • 18. Loss of the N-myc oncogene in a patient with a small interstitial deletion of the short arm of chromosome 2.
    Saal HM, King LJ, Zimmerman D, Johnson RC, Carr AG, Samango-Sprouse CA, Stanley W.
    Am J Med Genet; 1996 Dec 30; 66(4):373-7. PubMed ID: 8989454
    [Abstract] [Full Text] [Related]

  • 19. Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome?
    Rauen KA, Albertson DG, Pinkel D, Cotter PD.
    Am J Med Genet; 2002 Jun 01; 110(1):51-6. PubMed ID: 12116271
    [Abstract] [Full Text] [Related]

  • 20. Brief clinical report: interstitial deletion of the long arm of chromosome 4, del(4)(q28-->q31.3).
    Copelli S, del Rey G, Heinrich J, Coco R.
    Am J Med Genet; 1995 Jan 02; 55(1):77-9. PubMed ID: 7702102
    [Abstract] [Full Text] [Related]

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