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Journal Abstract Search

109 related items for PubMed ID: 1301683

  • 1. [Nijmegen's syndrome].
    Kunz B, Teillac Hamel D, Girier B, Stephan JL, De Prost Y.
    Ann Dermatol Venereol; 1992; 119(11):815-6. PubMed ID: 1301683
    [No Abstract] [Full Text] [Related]

  • 2. Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies.
    Turleau C, Cabanis MO, Girault D, Ledeist F, Mettey R, Puissant H, Prieur M, de Grouchy J.
    Am J Med Genet; 1989 Mar; 32(3):420-4. PubMed ID: 2729362
    [Abstract] [Full Text] [Related]

  • 3. [Ring chromosome 17 and recurring pneumopathy].
    Lambruschini Ferri N, Ortola Castells ME, Rosell Andreo J, Ballesta Martínez F.
    An Esp Pediatr; 1989 Nov; 31(5):478-80. PubMed ID: 2694873
    [No Abstract] [Full Text] [Related]

  • 4. [Familial incidence of the Bloch-Sulzberger syndrome (Incontinentia pigmenti) with ocular involvement].
    Benedikt O, Ehalt H.
    Klin Monbl Augenheilkd; 1970 Nov; 157(5):652-63. PubMed ID: 4992796
    [No Abstract] [Full Text] [Related]

  • 5. [Partial monosomy of the short arm of chromosome 10, associated with Rieger's syndrome and a Di George type partial immunodeficiency].
    Hervé J, Warnet JF, Jeaneau-Bellego E, Portnoi MF, Taillemitte JL, Hervé F.
    Ann Pediatr (Paris); 1984 Jan; 31(1):77-80. PubMed ID: 6712103
    [No Abstract] [Full Text] [Related]

  • 6. [ICF syndrome. Immunodeficiency, chromosomal centromere instability, facial anomalies. Case report and literature review].
    Kieback P, Wendisch H, Lorenz P, Hinkel K.
    Monatsschr Kinderheilkd; 1992 Feb; 140(2):91-4. PubMed ID: 1557060
    [Abstract] [Full Text] [Related]

  • 7. [The 22q11.2 deletion syndrome: immunological questions].
    Paśnik J, Cywińska-Bernas A, Piotrowicz M.
    Postepy Hig Med Dosw (Online); 2007 Jun 12; 61():361-8. PubMed ID: 17572656
    [Abstract] [Full Text] [Related]

  • 8. Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome.
    Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L.
    Am J Med Genet; 1991 Nov 01; 41(2):246-50. PubMed ID: 1785643
    [Abstract] [Full Text] [Related]

  • 9. The association of congenital malformations and malignant tumors in infants and children.
    Valdés-Dapena MA, Huff DS, DiGeorge AM.
    Ann Clin Lab Sci; 1974 Nov 01; 4(5):363-71. PubMed ID: 4369266
    [No Abstract] [Full Text] [Related]

  • 10. Syndromes associated with immunodeficiency.
    Ming JE, Stiehm ER, Graham JM.
    Adv Pediatr; 1999 Nov 01; 46():271-351. PubMed ID: 10645468
    [Abstract] [Full Text] [Related]

  • 11. Telomeric tandem translocation tan (14; 15) (q32; q26) and absence of IgA in an incestuous child.
    Koulischer L, Lambotte C.
    Ann Genet; 1974 Sep 01; 17(3):189-92. PubMed ID: 4548820
    [No Abstract] [Full Text] [Related]

  • 12. [Antibody deficiency syndrome and chromosome aberrations].
    Wiersbitzky S, Schroeter C.
    Allerg Immunol (Leipz); 1976 Sep 01; 22(2):167-70. PubMed ID: 136884
    [Abstract] [Full Text] [Related]

  • 13.
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  • 14. Chromosome instability in ICF syndrome: formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization.
    Sawyer JR, Swanson CM, Wheeler G, Cunniff C.
    Am J Med Genet; 1995 Mar 27; 56(2):203-9. PubMed ID: 7625446
    [Abstract] [Full Text] [Related]

  • 15. [Severe mesenchymosis in 2 infant brothers with congenital chromosome aberrations].
    Tarnoveanu G, Dobrescu G, Harmanschi A, Cighir R, Gheorghiu G, Anastasiu V, Mitescu G.
    Presse Med (1893); 1970 Dec 05; 78(52):2322. PubMed ID: 5488596
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. Syndromes and situations associated with congenital clavicular hypoplasia or agenesis.
    Hall BD.
    Prog Clin Biol Res; 1982 Dec 05; 104():279-88. PubMed ID: 7163272
    [No Abstract] [Full Text] [Related]

  • 18. [Diagnostic principles for nonchromosomal multiple congenital abnormality syndromes].
    Cherstvoĭ ED, Laziuk GI.
    Tsitol Genet; 1979 Dec 05; 13(2):141-3. PubMed ID: 462534
    [No Abstract] [Full Text] [Related]

  • 19. Lessons from two human chromatin diseases, ICF syndrome and Rett syndrome.
    Matarazzo MR, De Bonis ML, Vacca M, Della Ragione F, D'Esposito M.
    Int J Biochem Cell Biol; 2009 Jan 05; 41(1):117-26. PubMed ID: 18786650
    [Abstract] [Full Text] [Related]

  • 20. [Partial deletion of the short arm of chromosome 4 (Wolf's syndrome). Two further cases].
    Schinzel A, Schmid W.
    Arch Genet (Zur); 1972 Jan 05; 45(2):88-98. PubMed ID: 4657590
    [No Abstract] [Full Text] [Related]

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