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Journal Abstract Search

116 related items for PubMed ID: 3232700

  • 1. Fechtner syndrome: clinical and genetic aspects.
    Gershoni-Baruch R, Baruch Y, Viener A, Lichtig C.
    Am J Med Genet; 1988 Oct; 31(2):357-67. PubMed ID: 3232700
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  • 2. Fechtner syndrome: report of a third family and literature review.
    Rocca B, Laghi F, Zini G, Maggiano N, Landolfi R.
    Br J Haematol; 1993 Oct; 85(2):423-6. PubMed ID: 8280620
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  • 3. Macrothrombocytopenia and progressive deafness: a new genetic syndrome.
    Brodie HA, Chole RA, Griffin GC, White JG.
    Am J Otol; 1992 Nov; 13(6):507-11. PubMed ID: 1449176
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  • 4. Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.
    Cusano R, Gangarossa S, Forabosco P, Caridi G, Ghiggeri GM, Russo G, Iolascon A, Ravazzolo R, Seri M.
    Eur J Hum Genet; 2000 Nov; 8(11):895-9. PubMed ID: 11093280
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  • 5. Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia.
    Peterson LC, Rao KV, Crosson JT, White JG.
    Blood; 1985 Feb; 65(2):397-406. PubMed ID: 2981587
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  • 6. Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties.
    Colville D, Wang YY, Jamieson R, Collins F, Hood J, Savige J.
    Ophthalmic Genet; 2000 Dec; 21(4):217-25. PubMed ID: 11135492
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  • 8. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
    Kunishima S, Matsushita T, Kojima T, Amemiya N, Choi YM, Hosaka N, Inoue M, Jung Y, Mamiya S, Matsumoto K, Miyajima Y, Zhang G, Ruan C, Saito K, Song KS, Yoon HJ, Kamiya T, Saito H.
    J Hum Genet; 2001 Dec; 46(12):722-9. PubMed ID: 11776386
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  • 12. Hereditary nephritis with macrothrombocytopenia: phenotypic variety and the genotypic defect.
    Basile C, Schiavone P, Heidet L, Grünfeld JP.
    J Nephrol; 2002 Dec; 15(3):320-3. PubMed ID: 12113606
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  • 14. [Fechtner syndrome. A rare differential Alport syndrome diagnosis].
    Delb W, Schenk J, Iro H.
    HNO; 2000 Aug; 48(8):616-20. PubMed ID: 10994174
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  • 15. Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions.
    Greinacher A, Nieuwenhuis HK, White JG.
    Blut; 1990 Nov; 61(5):282-8. PubMed ID: 2176899
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  • 16. [The Sebastian platelet syndrome. A new form of hereditary thrombocytopenia with giant thrombocytes and inclusion bodies in granulocytes].
    Greinacher A, Nieuwenhuis HK, White JG.
    Beitr Infusionsther; 1990 Nov; 26():383-5. PubMed ID: 1703879
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  • 18. Autosomal dominant nephritis with renal failure of non-Alport type: clinical and molecular studies.
    Ilan T, Shohat T, Tobar A, Magal N, Yahav M, Halpern GJ, Rechavi G, Shohat M.
    Isr Med Assoc J; 2001 Jul; 3(7):488-91. PubMed ID: 11791413
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  • 19. A novel Cys1638Tyr NC1 domain substitution in alpha5(IV) collagen causes Alport syndrome with late onset renal failure without hearing loss or eye abnormalities.
    Wilson JC, Yoon HS, Walker RJ, Eccles MR.
    Nephrol Dial Transplant; 2007 May; 22(5):1338-46. PubMed ID: 17277342
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  • 20. [May-Hegglin anomaly--from genome research to clinical laboratory].
    Kunishima S.
    Rinsho Byori; 2003 Sep; 51(9):898-904. PubMed ID: 14560660
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