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Journal Abstract Search

180 related items for PubMed ID: 9321770

  • 1. Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.
    Gustavsson P, Skeppner G, Johansson B, Berg T, Gordon L, Kreuger A, Dahl N.
    J Med Genet; 1997 Sep; 34(9):779-82. PubMed ID: 9321770
    [Abstract] [Full Text] [Related]

  • 2. A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome.
    Tentler D, Gustavsson P, Elinder G, Eklöf O, Gordon L, Mandel A, Dahl N.
    J Med Genet; 2000 Feb; 37(2):128-31. PubMed ID: 10662814
    [Abstract] [Full Text] [Related]

  • 3. Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb.
    Gustavsson P, Willing TN, van Haeringen A, Tchernia G, Dianzani I, Donnér M, Elinder G, Henter JI, Nilsson PG, Gordon L, Skeppner G, van't Veer-Korthof L, Kreuger A, Dahl N.
    Nat Genet; 1997 Aug; 16(4):368-71. PubMed ID: 9241274
    [Abstract] [Full Text] [Related]

  • 4. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
    Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N.
    Nat Genet; 1999 Feb; 21(2):169-75. PubMed ID: 9988267
    [Abstract] [Full Text] [Related]

  • 5. A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation.
    Cario H, Bode H, Gustavsson P, Dahl N, Kohne E.
    Clin Genet; 1999 Jun; 55(6):487-92. PubMed ID: 10450869
    [Abstract] [Full Text] [Related]

  • 6. Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.
    Gustavsson P, Garelli E, Draptchinskaia N, Ball S, Willig TN, Tentler D, Dianzani I, Punnett HH, Shafer FE, Cario H, Ramenghi U, Glomstein A, Pfeiffer RA, Goringe A, Olivieri NF, Smibert E, Tchernia G, Elinder G, Dahl N.
    Am J Hum Genet; 1998 Nov; 63(5):1388-95. PubMed ID: 9792865
    [Abstract] [Full Text] [Related]

  • 7. Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease.
    Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Baker D, Pospisilova D, Webber A, Viskochil DH, Nathan DG, Beggs AH, Sieff CA.
    Blood; 2001 Apr 01; 97(7):2145-50. PubMed ID: 11264183
    [Abstract] [Full Text] [Related]

  • 8. Diamond-Blackfan anaemia in the Italian population.
    Ramenghi U, Garelli E, Valtolina S, Campagnoli MF, Timeus F, Crescenzio N, Mair M, Varotto S, D'Avanzo M, Nobili B, Massolo F, Mori PG, Locatelli F, Gustavsson P, Dahl N, Dianzani I.
    Br J Haematol; 1999 Mar 01; 104(4):841-8. PubMed ID: 10192448
    [Abstract] [Full Text] [Related]

  • 9. Autosomal dominantly inherited Diamond-Blackfan anemia resulting in nonimmune hydrops.
    Rogers BB, Bloom SL, Buchanan GR.
    Obstet Gynecol; 1997 May 01; 89(5 Pt 2):805-7. PubMed ID: 9166327
    [Abstract] [Full Text] [Related]

  • 10. Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2).
    Zhu G, Gillessen-Kaesbach G, Wirth J, Passarge E, Bartsch O.
    Am J Med Genet; 2001 Feb 01; 98(4):317-9. PubMed ID: 11170074
    [Abstract] [Full Text] [Related]

  • 11. Isolation of cosmids corresponding to the chromosome breakpoints of a de novo autosomal translocation, t(6;19)(p21;q13.1), in a patient with multicystic renal dysplasia.
    Groenen PM, Garcia E, Thoelen R, Aly M, Schoenmakers EF, Devriendt K, Fryns JP, Van de Ven WJ.
    Cytogenet Cell Genet; 1996 Feb 01; 75(4):210-5. PubMed ID: 9067426
    [Abstract] [Full Text] [Related]

  • 12. A de novo reciprocal t(2;18) translocation with regular trisomy 21.
    Cyrus C, Kaur H, Koshy T, Thankanadar J, Nallathambi C.
    Genet Test; 2007 Feb 01; 11(4):459-62. PubMed ID: 18294065
    [Abstract] [Full Text] [Related]

  • 13. X-ray-sensitivity of lymphocytes of aplastic- and Diamond-Blackfan-anemia patients as detected by conventional cytogenetic and chromosome painting techniques.
    van Diemen PC, Maasdam D, Darroudi F, Natarajan AT.
    Mutat Res; 1997 Feb 03; 373(2):225-35. PubMed ID: 9042404
    [Abstract] [Full Text] [Related]

  • 14. A 3 1/2 year old girl with distal trisomy 19q defined by FISH.
    James C, Jauch A, Robson L, Watson N, Smith A.
    J Med Genet; 1996 Sep 03; 33(9):795-7. PubMed ID: 8880586
    [Abstract] [Full Text] [Related]

  • 15. X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization.
    Beck J, Enders H, Schliephacke M, Buchwald-Saal M, Tümer Z.
    Clin Genet; 1994 Oct 03; 46(4):295-8. PubMed ID: 7834894
    [Abstract] [Full Text] [Related]

  • 16. Diamond-Blackfan anemia.
    Da Costa L, Willig TN, Fixler J, Mohandas N, Tchernia G.
    Curr Opin Pediatr; 2001 Feb 03; 13(1):10-5. PubMed ID: 11176237
    [Abstract] [Full Text] [Related]

  • 17. The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia.
    Vlachos A, Klein GW, Lipton JM.
    J Pediatr Hematol Oncol; 2001 Feb 03; 23(6):377-82. PubMed ID: 11563775
    [Abstract] [Full Text] [Related]

  • 18. A severely mentally and motor retarded girl with monosomy 3pter-->p25 and trisomy 8q24-->qter due to a familial reciprocal translocation t(3;8)(p25;q24).
    Balci S, Aypar E, Beksaç MS, Bartsch O.
    Genet Couns; 2009 Feb 03; 20(2):125-32. PubMed ID: 19650409
    [Abstract] [Full Text] [Related]

  • 19. High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP).
    Willig TN, Pérignon JL, Gustavsson P, Gane P, Draptchinskaya N, Testard H, Girot R, Debré M, Stéphan JL, Chenel C, Cartron JP, Dahl N, Tchernia G.
    Blood; 1998 Dec 01; 92(11):4422-7. PubMed ID: 9834249
    [Abstract] [Full Text] [Related]

  • 20. Six cases of deletion 9p24 and trisomy 19q13.4 inherited from a familial balanced translocation.
    Su PH, Kuo PL, Chen SJ, Huang SC, Chen JY, Hung HM.
    J Formos Med Assoc; 2005 Jul 01; 104(7):525-30. PubMed ID: 16091833
    [Abstract] [Full Text] [Related]

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