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Journal Abstract Search

113 related items for PubMed ID: 7151298

  • 1. Prenatal diagnosis of Cockayne syndrome using assay of colony-forming ability in ultraviolet light irradiated cells.
    Sugita T, Ikenaga M, Suehara N, Kozuka T, Furuyama J, Yabuuchi H.
    Clin Genet; 1982 Sep; 22(3):137-42. PubMed ID: 7151298
    [No Abstract] [Full Text] [Related]

  • 2. [Cockayne syndrome: siblings with different ultraviolet sensitivity and early onset of manifestations].
    Okamoto N, Otani K, Abe J, Futagi Y, Nishida M.
    No To Hattatsu; 1989 May; 21(3):265-70. PubMed ID: 2736126
    [Abstract] [Full Text] [Related]

  • 3. Cockayne syndrome: a cellular sensitivity to ultraviolet light.
    Schmickel RD, Chu EH, Trosko JE, Chang CC.
    Pediatrics; 1977 Aug; 60(2):135-9. PubMed ID: 887325
    [Abstract] [Full Text] [Related]

  • 4. A DNA repair defect in a patient with ataxia, mental retardation, and short stature.
    Yamagata T, Momoi MY, Saitoh S, Takadaya K, Sato K.
    Pediatr Neurol; 1998 Apr; 18(4):358-61. PubMed ID: 9588536
    [Abstract] [Full Text] [Related]

  • 5. Rapid procedures for prenatal diagnosis of Cockayne syndrome.
    Kawai K, Ikenaga M, Ohtani H, Fukuchi K, Yamamura K, Kumahara Y.
    Jinrui Idengaku Zasshi; 1983 Sep; 28(3):223-9. PubMed ID: 6672367
    [No Abstract] [Full Text] [Related]

  • 6. DNA repair in Cockayne syndrome.
    Hoar DI, Waghorne C.
    Am J Hum Genet; 1978 Nov; 30(6):590-601. PubMed ID: 747187
    [Abstract] [Full Text] [Related]

  • 7. Increased sensitivity of cell strains from Cockayne's syndrome to sister-chromatid-exchange induction and cell killing by UV light.
    Marshall RR, Arlett CF, Harcourt SA, Broughton BA.
    Mutat Res; 1980 Jan; 69(1):107-12. PubMed ID: 7360141
    [Abstract] [Full Text] [Related]

  • 8. Prenatal diagnosis of Cockayne's syndrome.
    Lehmann AR, Francis AJ, Giannelli F.
    Lancet; 1985 Mar 02; 1(8427):486-8. PubMed ID: 2579301
    [Abstract] [Full Text] [Related]

  • 9. Effects of DNA damaging agents on cultured fibroblasts derived from patients with Cockayne syndrome.
    Wade MH, Chu EH.
    Mutat Res; 1979 Jan 02; 59(1):49-60. PubMed ID: 431551
    [Abstract] [Full Text] [Related]

  • 10. Nijmegen breakage syndrome.
    van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C.
    J Med Genet; 1996 Feb 02; 33(2):153-6. PubMed ID: 8929954
    [Abstract] [Full Text] [Related]

  • 11. New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia.
    Gurrieri F, Sammito V, Bellussi A, Neri G.
    Am J Med Genet; 1992 Oct 01; 44(3):315-20. PubMed ID: 1488978
    [No Abstract] [Full Text] [Related]

  • 12. Prenatal diagnosis of PIBIDS.
    Savary JB, Vasseur F, Vinatier D, Manouvrier S, Thomas P, Deminatti MM.
    Prenat Diagn; 1991 Nov 01; 11(11):859-66. PubMed ID: 1754556
    [Abstract] [Full Text] [Related]

  • 13. The Dyggve-Melchior-Clausen syndrome in adult siblings.
    Bonafede RP, Beighton P.
    Clin Genet; 1978 Jul 01; 14(1):24-30. PubMed ID: 679519
    [Abstract] [Full Text] [Related]

  • 14. Cockayne syndrome: clinical study of two patients and neuropathologic findings in one.
    Sugarman GI, Landing BH, Reed WB.
    Clin Pediatr (Phila); 1977 Mar 01; 16(3):225-32. PubMed ID: 837626
    [No Abstract] [Full Text] [Related]

  • 15. Transcription-related human disorders.
    Cleaver JE, Hultner ML.
    Am J Hum Genet; 1995 Jun 01; 56(6):1257-61. PubMed ID: 7762548
    [No Abstract] [Full Text] [Related]

  • 16. DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.
    Patton MA, Krywawych S, Winter RM, Brenton DP, Baraitser M.
    Am J Med Genet; 1987 Jan 01; 26(1):207-15. PubMed ID: 3812564
    [Abstract] [Full Text] [Related]

  • 17. Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome.
    Qazi QH, Nangia BS.
    J Pediatr; 1984 Mar 01; 104(3):391-4. PubMed ID: 6707793
    [Abstract] [Full Text] [Related]

  • 18. Metaphyseal dysostosis, conductive hearing loss and mental retardation: a recessively inherited syndrome.
    Rimoin DL, McAlister WH.
    Birth Defects Orig Artic Ser; 1971 Mar 01; 07(4):116-22. PubMed ID: 5173335
    [Abstract] [Full Text] [Related]

  • 19. Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure.
    Lucky PA, Kirsch N, Lucky AW, Carter DM.
    J Am Acad Dermatol; 1984 Aug 01; 11(2 Pt 2):340-6. PubMed ID: 6480939
    [Abstract] [Full Text] [Related]

  • 20. Xeroderma pigmentosum.
    Der Kaloustian VM, Kurban AK.
    Br J Dermatol; 1973 May 01; 88(5):513-5. PubMed ID: 4577062
    [No Abstract] [Full Text] [Related]

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