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Journal Abstract Search

99 related items for PubMed ID: 43111

  • 1. Partial trisomy 22q with elevated arylsulfatase-A activity.
    Fryns JP, Jaeken J, van den Berghe H.
    Ann Genet; 1979; 22(3):168-70. PubMed ID: 43111
    [Abstract] [Full Text] [Related]

  • 2. Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.
    Bisgaard AM, Kirchhoff M, Nielsen JE, Kibaek M, Lund A, Schwartz M, Christensen E.
    Clin Genet; 2009 Feb; 75(2):175-9. PubMed ID: 19054018
    [Abstract] [Full Text] [Related]

  • 3. Confirmation of the assignment of the gene for arylsulfatase A to chromosome 22 using somatic cell hybrids.
    Hors-Cayla MC, Heuertz S, Van Cong N, Weil D, Frézal J.
    Hum Genet; 1979 May 23; 49(1):33-9. PubMed ID: 38202
    [Abstract] [Full Text] [Related]

  • 4. [Partial trisomy 11q;22q (author's transl)].
    Benítez J, Ayuso C, García Aparicio J, Sáez E, Pérez Sotelo A, Bello MJ.
    An Esp Pediatr; 1981 Sep 23; 15(3):293-300. PubMed ID: 7332142
    [No Abstract] [Full Text] [Related]

  • 5. Conserved autosomal syntenic group on mouse (MMU) chromosome 15 and human (HSA) chromosome 22: assignment of a gene for arylsulfatase A to MMU 15 and regional mapping of DIA1, ARSA, and ACO2 on HSA 22.
    Francke U, Tetri P, Taggart RT, Oliver N.
    Cytogenet Cell Genet; 1981 Sep 23; 31(2):58-69. PubMed ID: 6118238
    [Abstract] [Full Text] [Related]

  • 6. De novo trisomy 22 due to an extra 22Q-chromosome.
    Stoll C, Medeiros P, Pécheur H, Schnebelen A.
    Ann Genet; 1997 Sep 23; 40(4):217-21. PubMed ID: 9526616
    [Abstract] [Full Text] [Related]

  • 7. Expression of human arylsulfatase-A in man-hamster somatic cell hybrids.
    Bruns GA, Mintz BJ, Leary AC, Regina VM, Gerald PS.
    Cytogenet Cell Genet; 1978 Sep 23; 22(1-6):182-5. PubMed ID: 37046
    [No Abstract] [Full Text] [Related]

  • 8. [Familial t (22q Dq) translocation and free trisomy 21 in offspring].
    Forabosco A, Cheli E, Marzona L, Temperani P.
    Minerva Pediatr; 1973 Sep 15; 25(31):1289-99. PubMed ID: 4358323
    [No Abstract] [Full Text] [Related]

  • 9. [Cytogenetic analysis of 50 mentally retarded children].
    Zhang WL.
    Zhonghua Shen Jing Jing Shen Ke Za Zhi; 1986 Apr 15; 19(2):107-8. PubMed ID: 2943566
    [No Abstract] [Full Text] [Related]

  • 10. Deleted ring chromosome 22 in a mentally retarded boy.
    Gustavson KH, Arancibia W, Eriksson U, Svennerholm L.
    Clin Genet; 1986 Apr 15; 29(4):337-41. PubMed ID: 2872982
    [Abstract] [Full Text] [Related]

  • 11. Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome.
    Lukusa T, van den Berghe L, Smeets E, Fryns JP.
    Ann Genet; 1999 Apr 15; 42(4):215-20. PubMed ID: 10674161
    [Abstract] [Full Text] [Related]

  • 12. [Familial translocation 22/Y and partial autosomal trisomy in a young girl].
    Kessel E, Pfeiffer RA, Welling P.
    J Genet Hum; 1979 Mar 15; 27(1):45-51. PubMed ID: 573310
    [Abstract] [Full Text] [Related]

  • 13. Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.
    Gort L, Coll MJ, Chabás A.
    Hum Mutat; 1999 Mar 15; 14(3):240-8. PubMed ID: 10477432
    [Abstract] [Full Text] [Related]

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  • 15. An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15.
    Cohen MM, Ornoy A, Rosenmann A, Kohn G.
    Ann Genet; 1975 Jun 15; 18(2):99-103. PubMed ID: 1081372
    [Abstract] [Full Text] [Related]

  • 16. [Familial translocation 3/22 MAT with partial trisomy 3q (author's transl)].
    Schwanitz G, Schmid RD, Grosse G, Grahn-Liebe E.
    J Genet Hum; 1977 Jun 15; 25(2):141-50. PubMed ID: 556338
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  • 18. Polymorphic markers for the arylsulfatase A gene reveal a greatly expanded meiotic map for the human 22q telomeric region.
    Brennan MD, Neibergs HL, Phillips K, Moseley S.
    Genomics; 2000 Feb 01; 63(3):430-2. PubMed ID: 10704291
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