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Journal Abstract Search

320 related items for PubMed ID: 7091193

  • 1. Brief cytogenetic case report: a 4.5-year-old girl with deletion 4q syndrome--de novo, 46,XX, del(4) (pter leads to q31:).
    Young RS, Palmer CG, Bender HA, Weaver DD, Hodes ME.
    Am J Med Genet; 1982 May; 12(1):103-7. PubMed ID: 7091193
    [No Abstract] [Full Text] [Related]

  • 2. Brief clinical report: cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter leads to q32:)].
    Schwartz S, Meekins J, Panny SR, Sun CC, Cohen MM.
    Am J Med Genet; 1983 May; 15(1):141-4. PubMed ID: 6859113
    [Abstract] [Full Text] [Related]

  • 3. 46,XX/46,XX,del(20)(pter-->p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit.
    Fryns JP, Kleczkowska A, Decock P, Massa G, van den Berghe H.
    Ann Genet; 1992 May; 35(4):234-6. PubMed ID: 1296522
    [Abstract] [Full Text] [Related]

  • 4. Deletion of the long arm of chromosome 4 [46,XX,del(4)(q31)] in a patient with congenital anomalies.
    Back E, Hertel C, Vogel W, Bettecken F, Thiesen M.
    Ann Genet; 1977 Dec; 20(4):294-6. PubMed ID: 305761
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 104(3):199-203. PubMed ID: 11754044
    [Abstract] [Full Text] [Related]

  • 6. 7q deletion syndrome (7q32 leads to 7qter).
    Harris EL, Wappner RS, Palmer CG, Hall B, Dinno N, Seashore MR, Breg WR.
    Clin Genet; 1977 Oct 01; 12(4):233-8. PubMed ID: 912940
    [Abstract] [Full Text] [Related]

  • 7. A specific syndrome due to deletion of the distal long arm of chromosome 1.
    Meinecke P, Vögtel D.
    Am J Med Genet; 1987 Oct 01; 28(2):371-6. PubMed ID: 3322005
    [Abstract] [Full Text] [Related]

  • 8. Langer-Giedion syndrome with interstitial 8q-deletion.
    Zabel BU, Baumann WA.
    Am J Med Genet; 1982 Mar 01; 11(3):353-8. PubMed ID: 7081298
    [Abstract] [Full Text] [Related]

  • 9. A case of an interstitial deletion of the long arm of chromosome 5: 46,XX,del(5)(q15q22).
    Fukuda T, Fukushima Y, Kuroki Y.
    Jinrui Idengaku Zasshi; 1984 Mar 01; 29(1):63-7. PubMed ID: 6748329
    [No Abstract] [Full Text] [Related]

  • 10. De novo 18q deletion with mitral valve insufficiency.
    Gunes S, Okten G, Kara N, Saglam Y, Tasdemir HA, Kayacik OE, Tural S.
    Genet Couns; 2008 Mar 01; 19(3):261-5. PubMed ID: 18990980
    [Abstract] [Full Text] [Related]

  • 11. Syndromes associated with deletion of the long arm of chromosome 18[del(18q)].
    Wilson MG, Towner JW, Forsman I, Siris E.
    Am J Med Genet; 1979 Mar 01; 3(2):155-74. PubMed ID: 474629
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  • 15. Terminal deletion 4q in a severely retarded boy.
    de Michelena MI, Campos PJ.
    Am J Med Genet; 1989 Jun 01; 33(2):228-30. PubMed ID: 2764033
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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]

  • 18. 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 Jul 01; 50(6):455-64. PubMed ID: 17720646
    [Abstract] [Full Text] [Related]

  • 19. Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature.
    Chitayat D, Ruvalcaba RH, Babul R, Teshima IE, Posnick JC, Vekemans MJ, Scarpelli H, Thuline H.
    Am J Med Genet; 1995 Jan 16; 55(2):147-54. PubMed ID: 7717413
    [Abstract] [Full Text] [Related]

  • 20. A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21-23 leads to 1q25.
    Taysi K, Sekhon GS, Hillman RE.
    Am J Med Genet; 1982 Dec 16; 13(4):423-30. PubMed ID: 7158642
    [No Abstract] [Full Text] [Related]

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