메뉴 건너뛰기




Volumn 65, Issue 6, 1999, Pages 1711-1717

Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11- 13

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ALPORT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 22Q; CONTROLLED STUDY; FEMALE; GENE MAPPING; GENETIC LINKAGE; GENETIC RECOMBINATION; HUMAN; ISRAEL; LEUKOCYTE; MALE; MARKER GENE; PRIORITY JOURNAL; SYNDROME; THROMBOCYTOPENIA;

EID: 0033365059     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302654     Document Type: Article
Times cited : (38)

References (34)
  • 1
    • 84965236793 scopus 로고
    • Hereditary familial congenital hemorrhagicnephritis
    • Alport AC (1927) Hereditary familial congenital hemorrhagicnephritis. Br J Med 1:504-506
    • (1927) Br J Med , vol.1 , pp. 504-506
    • Alport, A.C.1
  • 2
    • 0026792994 scopus 로고
    • Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 gene
    • Antignac C, Zhou J, Sanak M, Cochat P, Roussel B, Deschenes G, Gros F, et al (1992) Alport syndrome and diffuse leiomyomatosis: deletions in the 5′ end of the COL4A5 gene. Kidney Int 42:1178-1183
    • (1992) Kidney Int , vol.42 , pp. 1178-1183
    • Antignac, C.1    Zhou, J.2    Sanak, M.3    Cochat, P.4    Roussel, B.5    Deschenes, G.6    Gros, F.7
  • 5
    • 0023892574 scopus 로고
    • The genes coding for human pro alpha 1(IV) andpro alpha 2(IV) collagen are both located at the end of the long arm of chromosome 13
    • Boyd CD, Toth-Fejel S, Dadi IK, Litt M, Condon MR, KolbeM (1988) The genes coding for human pro alpha 1(IV) andpro alpha 2(IV) collagen are both located at the end of the long arm of chromosome 13. Am J Hum Genet 42:309-314
    • (1988) Am J Hum Genet , vol.42 , pp. 309-314
    • Boyd, C.D.1    Toth-Fejel, S.2    Dadi, I.K.3    Litt, M.4    Condon, M.R.5    Kolbe, M.6
  • 7
    • 0028926898 scopus 로고
    • Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2
    • Budarf ML, Konkle B, Ludlow LB, Michaud D, Li M, Yamashiro DJ, McDonald-Mcginn D, et al (1995) Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. Hum Mol Genet 4:763-766
    • (1995) Hum Mol Genet , vol.4 , pp. 763-766
    • Budarf, M.L.1    Konkle, B.2    Ludlow, L.B.3    Michaud, D.4    Li, M.5    Yamashiro, D.J.6    McDonald-Mcginn, D.7
  • 8
    • 0015874467 scopus 로고
    • Pathology of hereditary nephritis
    • Churg J, Sherman RL (1973) Pathology of hereditary nephritis. Arch Pathol 95:374-379
    • (1973) Arch Pathol , vol.95 , pp. 374-379
    • Churg, J.1    Sherman, R.L.2
  • 10
    • 0016506243 scopus 로고
    • Hereditary thrombocytopenia, deafness, and renal disease
    • Eckstein JD, Filip DJ, Watts JC (1975) Hereditary thrombocytopenia, deafness, and renal disease. Ann Intern Med 82:639-645
    • (1975) Ann Intern Med , vol.82 , pp. 639-645
    • Eckstein, J.D.1    Filip, D.J.2    Watts, J.C.3
  • 13
    • 0025606519 scopus 로고
    • Sebastian platelet syndrome: A new variant of hereditary macrothrombocytopenia with leukocyte inclusions
    • Greinacher A, Nieuwenhuis HK, White JC (1990) Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. Blut 61:282-288
    • (1990) Blut , vol.61 , pp. 282-288
    • Greinacher, A.1    Nieuwenhuis, H.K.2    White, J.C.3
  • 14
    • 84866470520 scopus 로고
    • Gleichzeitige konstitutionelle veranderungenan neutrophilen und thrombozyten
    • Hegglin R (1945) Gleichzeitige konstitutionelle Veranderungenan Neutrophilen und Thrombozyten. Helv Med Acta 12:439-440
    • (1945) Helv Med Acta , vol.12 , pp. 439-440
    • Hegglin, R.1
  • 15
    • 0028981590 scopus 로고
    • Deletions of both alfa5(VI) and alfa6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumors
    • Heidet L, Dahan K, Zhou J, Xu Z, Cochat P, Gould JDM, Leppig KA, et al (1995) Deletions of both alfa5(VI) and alfa6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumors. Hum Mol Genet 4:99-108
    • (1995) Hum Mol Genet , vol.4 , pp. 99-108
    • Heidet, L.1    Dahan, K.2    Zhou, J.3    Xu, Z.4    Cochat, P.5    Gould, J.D.M.6    Leppig, K.A.7
  • 16
    • 0025174012 scopus 로고
    • Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome
    • Hostikka SL, Eddy RL, Byers MG, Hoyhtya M, Shows TB, Tryggvason K (1990) Identification of a distinct type IV collagen alpha chain with restricted kidney distribution andassignment of its gene to the locus of X chromosome-linked Alport syndrome. Proc Nad Acad Sci USA 87:1606-1610
    • (1990) Proc Nad Acad Sci USA , vol.87 , pp. 1606-1610
    • Hostikka, S.L.1    Eddy, R.L.2    Byers, M.G.3    Hoyhtya, M.4    Shows, T.B.5    Tryggvason, K.6
  • 18
    • 0029930996 scopus 로고
    • The COL4A5 gene in Japanese Alport syndrome patients: Spectrum of mutations of all exons
    • Kawai S, Nomura S, Harno T, Harno K, Fukushima T, Osawa G (1995) The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. Kidney Int 49:814-822
    • (1995) Kidney Int , vol.49 , pp. 814-822
    • Kawai, S.1    Nomura, S.2    Harno, T.3    Harno, K.4    Fukushima, T.5    Osawa, G.6
  • 21
    • 0026704436 scopus 로고
    • Colocalization of the genes for the alpha 3(IV) and alpha4(IV) chains of type IV collagen to chromosome 2 bands q35-q37
    • Mariyama M, Zheng K, Yang-Feng TL, Reeders ST (1992) Colocalization of the genes for the alpha 3(IV) and alpha4(IV) chains of type IV collagen to chromosome 2 bands q35-q37. Genomics 13:809-813
    • (1992) Genomics , vol.13 , pp. 809-813
    • Mariyama, M.1    Zheng, K.2    Yang-Feng, T.L.3    Reeders, S.T.4
  • 22
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Plesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Plesky, H.F.3
  • 24
    • 0025360098 scopus 로고
    • Molecular cloning of thealpha 5 (IV) collagen and assignment of the gene to theregion of the X chromosome containing the Alport syndrome locus
    • Myers JC, Jones TA, Pohjolainen ER, Kadri AS, Goddard AD,Sheer D, Solomon E, et al (1990) Molecular cloning of thealpha 5 (IV) collagen and assignment of the gene to theregion of the X chromosome containing the Alport syndrome locus. Am J Hum Genet 46:1024-1033
    • (1990) Am J Hum Genet , vol.46 , pp. 1024-1033
    • Myers, J.C.1    Jones, T.A.2    Pohjolainen, E.R.3    Kadri, A.S.4    Goddard, A.D.5    Sheer, D.6    Solomon, E.7
  • 27
    • 0027232076 scopus 로고
    • Asplicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome
    • Nomura S, Osawa G, Sai T, Harano T, Harano K (1993) Asplicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome. Kidney Int 43: 1116-1124
    • (1993) Kidney Int , vol.43 , pp. 1116-1124
    • Nomura, S.1    Osawa, G.2    Sai, T.3    Harano, T.4    Harano, K.5
  • 28
    • 0017169272 scopus 로고
    • Hereditary nephritis, deafness and abnormal thrombopoiesis: Study of a new kindred
    • Parsa KP, Lee DBN, Zamboni L, Glassock RJ (1976) Hereditary nephritis, deafness and abnormal thrombopoiesis: study of a new kindred. Am J Med 60:665-672
    • (1976) Am J Med , vol.60 , pp. 665-672
    • Parsa, K.P.1    Lee, D.B.N.2    Zamboni, L.3    Glassock, R.J.4
  • 29
    • 0021956321 scopus 로고
    • Fechtner syndrome: A variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia
    • Peterson LC, Rao KV, Crosson JT, White JG (1985) Fechtner syndrome: a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. Blood 65:397-406
    • (1985) Blood , vol.65 , pp. 397-406
    • Peterson, L.C.1    Rao, K.V.2    Crosson, J.T.3    White, J.G.4
  • 30
    • 0027440581 scopus 로고
    • Fechtner syndrome: Report of a third family and literaturereview
    • Rocca B, Laghi F, Zini G, Maggiano N, Landolfi R (1993) Fechtner syndrome: report of a third family and literatu rereview. Br J Haematol 85:423-426
    • (1993) Br J Haematol , vol.85 , pp. 423-426
    • Rocca, B.1    Laghi, F.2    Zini, G.3    Maggiano, N.4    Landolfi, R.5
  • 31
    • 0015736575 scopus 로고
    • Alport syndrome: A consideration of pathogenesis
    • Spear G.S. (1973) Alport syndrome: a consideration of pathogenesis. Clin Nephrol 1:336-337
    • (1973) Clin Nephrol , pp. 336-337
    • Spear, G.S.1
  • 32
    • 0015428067 scopus 로고
    • Alport's syndrome: Emphasizingelectron microscopic studies of the glomerulus
    • Spear GS, Slusser RJ (1972) Alport's syndrome: emphasizi gelectron microscopic studies of the glomerulus. Am J Pathol 69:213-222
    • (1972) Am J Pathol , vol.69 , pp. 213-222
    • Spear, G.S.1    Slusser, R.J.2
  • 34
    • 0027485643 scopus 로고
    • Deletion of the paired alfa5(IV) and alfa6(IV) collagen genes in inherited smooth muscle tumors
    • Zhou J, Mochizuki T, Smeets H, Antignac C, Laurila P, DE Paepe A, Tryggvason K, et al (1993) Deletions of the paired alfa5(IV) and alfa6(IV) collagen genes in inherited smooth muscle tumors. Science 261:1167-1169
    • (1993) Science , vol.261 , pp. 1167-1169
    • Zhou, J.1    Mochizuki, T.2    Smeets, H.3    Antignac, C.4    Laurila, P.5    De Paepe, A.6    Tryggvason, K.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.