메뉴 건너뛰기




Volumn 57, Issue 1, 2000, Pages 61-66

An SRY-negative XX male with Huriez syndrome

Author keywords

Huriez syndrome; Sex reversal; SRY; Tylosis

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME PAINTING; CHROMOSOME TRANSLOCATION; HUMAN; HUMAN CELL; HURIEZ SYNDROME; KARYOTYPE 46,XX; KERATOSIS PALMOPLANTARIS; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEX TRANSFORMATION; SPERMATOGENESIS; TESTIS DEVELOPMENT; Y CHROMOSOME;

EID: 0033981864     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.570109.x     Document Type: Article
Times cited : (37)

References (38)
  • 1
    • 73649189424 scopus 로고
    • Epitheliomas spinocellulaires sur atrophie cutanee congenitale dans deux familles à morbidité cancereuse elevée
    • Huriez CL, Agache P, Bombart M, Souillart F. Epitheliomas spinocellulaires sur atrophie cutanee congenitale dans deux familles à morbidité cancereuse elevée. Bull Soc Fr Derm Syph 1963: 70: 24-28.
    • (1963) Bull Soc Fr Derm Syph , vol.70 , pp. 24-28
    • Huriez, C.L.1    Agache, P.2    Bombart, M.3    Souillart, F.4
  • 3
    • 0029878158 scopus 로고    scopus 로고
    • The scleoroatrophic syndrome of Huriez: A cancer-prone genodermatosis
    • Hamm H, Traupe H, Brocker EB, Shubert H, Kolde G. The scleoroatrophic syndrome of Huriez: a cancer-prone genodermatosis. Br J Dermatol 1996: 134: 512-518.
    • (1996) Br J Dermatol , vol.134 , pp. 512-518
    • Hamm, H.1    Traupe, H.2    Brocker, E.B.3    Shubert, H.4    Kolde, G.5
  • 4
    • 0017543794 scopus 로고
    • La genodermatose scleroatrophiante et keratodermique des extremités
    • Lambert D, Planche H, Chapuis JL. La genodermatose scleroatrophiante et Keratodermique des extremités. Ann Dermatol Venereol 1977: 104: 654-657.
    • (1977) Ann Dermatol Venereol , vol.104 , pp. 654-657
    • Lambert, D.1    Planche, H.2    Chapuis, J.L.3
  • 5
    • 0029143535 scopus 로고
    • Keratoderma with scleroatrophy of the extremities or sclerotylosis (Huriez syndrome): A reappraisal
    • Delaporte E, N'Guyen-Mailfer C, Janin A et al. Keratoderma with scleroatrophy of the extremities or sclerotylosis (Huriez syndrome): a reappraisal. Br J Dermatol 1995: 133: 409-416.
    • (1995) Br J Dermatol , vol.133 , pp. 409-416
    • Delaporte, E.1    N'Guyen-Mailfer, C.2    Janin, A.3
  • 7
    • 0025364886 scopus 로고
    • A gene from the human sex determining region encodes a protein with homology to a conserved DNA binding motif
    • Sinclair AH, Berta P, Palmer MS et al. A gene from the human sex determining region encodes a protein with homology to a conserved DNA binding motif. Nature 1990: 346: 240-243.
    • (1990) Nature , vol.346 , pp. 240-243
    • Sinclair, A.H.1    Berta, P.2    Palmer, M.S.3
  • 10
    • 0027936497 scopus 로고
    • Sex determination
    • Hawkins JR. Sex determination. Hum Mol Genet 1994: 3: 1463-1467.
    • (1994) Hum Mol Genet , vol.3 , pp. 1463-1467
    • Hawkins, J.R.1
  • 11
    • 0025258480 scopus 로고
    • A human XY female with a frame shift mutation in the candidate testis-determining gene SRY
    • Jager RJ, Anvret M, Hall K, Scherer G. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 1990: 348: 452-454.
    • (1990) Nature , vol.348 , pp. 452-454
    • Jager, R.J.1    Anvret, M.2    Hall, K.3    Scherer, G.4
  • 12
    • 0026442281 scopus 로고
    • XY sex reversal associated to a deletion 5′ to the SRY 'HMG box' in the testis determining region
    • Mc Elreavey K, Vilain E, Abbas N et al. XY sex reversal associated to a deletion 5′ to the SRY 'HMG box' in the testis determining region. Proc Natl Acad Sci USA 1992: 89: 11016-11020.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 11016-11020
    • Mc Elreavey, K.1    Vilain, E.2    Abbas, N.3
  • 13
    • 0027935188 scopus 로고
    • A novel missense mutation in the HMG box of the SRY gene in a patient with XY sex reversal
    • Iida T, Nakahori Y, Komaki F et al. A novel missense mutation in the HMG box of the SRY gene in a patient with XY sex reversal. Hum Mol Genet 1994: 3: 1437-1438.
    • (1994) Hum Mol Genet , vol.3 , pp. 1437-1438
    • Iida, T.1    Nakahori, Y.2    Komaki, F.3
  • 14
    • 0027513379 scopus 로고
    • The role of the sex determining region Y gene (SRY) in the etiology of 46,XX maleness
    • Fechner PY, Marcantonio SM, Jaswaney VJ et al. The role of the sex determining region Y gene (SRY) in the etiology of 46,XX maleness. J Clin Endocrinol Metab 1993: 76: 690-696.
    • (1993) J Clin Endocrinol Metab , vol.76 , pp. 690-696
    • Fechner, P.Y.1    Marcantonio, S.M.2    Jaswaney, V.J.3
  • 15
    • 0029154439 scopus 로고
    • Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion
    • Tar A, Solyom J, Gyorvari B, Ion B et al. Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion. Hum Genet 1995: 96: 464-468.
    • (1995) Hum Genet , vol.96 , pp. 464-468
    • Tar, A.1    Solyom, J.2    Gyorvari, B.3    Ion, B.4
  • 17
    • 0027372859 scopus 로고
    • Familial true hermaphroditism: Paternal and maternal transmission of true hermaphroditism (46,XX) and XX males in the absence of Y-chromosomal sequences
    • Kuhnle U, Schwartz HP, Lohrs U, Stengel-Ruthkowsky S, Cleve H, Braun A. Familial true hermaphroditism: paternal and maternal transmission of true hermaphroditism (46,XX) and XX males in the absence of Y-chromosomal sequences. Hum Genet 1993: 92: 571-576.
    • (1993) Hum Genet , vol.92 , pp. 571-576
    • Kuhnle, U.1    Schwartz, H.P.2    Lohrs, U.3    Stengel-Ruthkowsky, S.4    Cleve, H.5    Braun, A.6
  • 18
    • 0015265706 scopus 로고
    • Nature and origin of males with XX sex chromosome
    • de la Chapelle A. Nature and origin of males with XX sex chromosome. Am J Hum Genet 1972: 24: 71-105.
    • (1972) Am J Hum Genet , vol.24 , pp. 71-105
    • De La Chapelle, A.1
  • 19
    • 0025186924 scopus 로고
    • Genotype phenotype correlations in XX males and their bearing on current theories of sex determination
    • Ferguson-Smith MA, Cooke A, Affara NA, Boyd E, Tolmie JL. Genotype phenotype correlations in XX males and their bearing on current theories of sex determination. Hum Genet 1990: 84: 198-202.
    • (1990) Hum Genet , vol.84 , pp. 198-202
    • Ferguson-Smith, M.A.1    Cooke, A.2    Affara, N.A.3    Boyd, E.4    Tolmie, J.L.5
  • 20
    • 0016328318 scopus 로고
    • New giemsa method for the differential staining of sister chromatids
    • Perry P, Wolff S. New Giemsa method for the differential staining of sister chromatids. Nature 1974: 251: 156-158.
    • (1974) Nature , vol.251 , pp. 156-158
    • Perry, P.1    Wolff, S.2
  • 21
    • 0016766199 scopus 로고
    • Late replicating bands of human chromosomes demonstrated by fluorochrome and Giemsa staining
    • Grzeschik KH, Kim MA, Johannsmann R. Late replicating bands of human chromosomes demonstrated by fluorochrome and Giemsa staining. Hum Genet 1975: 29: 41-49.
    • (1975) Hum Genet , vol.29 , pp. 41-49
    • Grzeschik, K.H.1    Kim, M.A.2    Johannsmann, R.3
  • 22
    • 0024563577 scopus 로고
    • Sensitivity to genotoxic effects of bleomycin in humans: Possible relationship to environmental carcinogenesis
    • Hsu TC, Johnston DA, Cherry LM. Sensitivity to genotoxic effects of bleomycin in humans: possible relationship to environmental carcinogenesis. Int J Cancer 1989: 43: 403-409.
    • (1989) Int J Cancer , vol.43 , pp. 403-409
    • Hsu, T.C.1    Johnston, D.A.2    Cherry, L.M.3
  • 23
    • 0025612527 scopus 로고
    • Fragile site induction by aphidicolin may be increased in parents of neuroblastoma patients
    • Vernole P, Tedeschi B, Nicoletti B. Fragile site induction by aphidicolin may be increased in parents of neuroblastoma patients. Cancer Genet Cytogenet 1990: 50: 35-44.
    • (1990) Cancer Genet Cytogenet , vol.50 , pp. 35-44
    • Vernole, P.1    Tedeschi, B.2    Nicoletti, B.3
  • 24
    • 0026756965 scopus 로고
    • The human Y chromosome: A 43-interval map based on naturally occurring deletions
    • Vollrath D, Foote S, Hilton A et al. The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science 1992: 258: 52-59.
    • (1992) Science , vol.258 , pp. 52-59
    • Vollrath, D.1    Foote, S.2    Hilton, A.3
  • 25
    • 0030725069 scopus 로고    scopus 로고
    • Functional coherence of the human Y chromosome
    • Lahn BT, Page DC. Functional coherence of the human Y chromosome. Science 1997: 278: 675-679.
    • (1997) Science , vol.278 , pp. 675-679
    • Lahn, B.T.1    Page, D.C.2
  • 26
    • 0024360902 scopus 로고
    • ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escape X inactivation
    • Schneider-Gadicke A, Beer-Romero P, Brown LG, Nussbaum R, Page DC. ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escape X inactivation. Cell 1989: 57: 1247-1258.
    • (1989) Cell , vol.57 , pp. 1247-1258
    • Schneider-Gadicke, A.1    Beer-Romero, P.2    Brown, L.G.3    Nussbaum, R.4    Page, D.C.5
  • 27
    • 0344043347 scopus 로고    scopus 로고
    • Mammalian sex determination: Joining pieces of the genetic puzzle
    • Jemenez F, Burgos M. Mammalian sex determination: joining pieces of the genetic puzzle. Bioessay 1998: 20: 696-699.
    • (1998) Bioessay , vol.20 , pp. 696-699
    • Jemenez, F.1    Burgos, M.2
  • 28
    • 0024601928 scopus 로고
    • Evidence for distinguishable transcripts of the putative testis determining gene (ZFY) and mapping of homologous cDNA sequences to chromosomes X, Y and 9
    • Habeebu SSM, Kalaitsidaki M, Bishop CE. Ferguson-Smith MA. Evidence for distinguishable transcripts of the putative testis determining gene (ZFY) and mapping of homologous cDNA sequences to chromosomes X, Y and 9. Nucleic Acids Res 1989: 17: 2987-2999.
    • (1989) Nucleic Acids Res , vol.17 , pp. 2987-2999
    • Habeebu, S.S.M.1    Kalaitsidaki, M.2    Bishop, C.E.3    Ferguson-Smith, M.A.4
  • 29
    • 0031947449 scopus 로고    scopus 로고
    • Failure of testicular development associated with a rearrangement of 9p24. I proximal to the SNF2 gene
    • Ion R, Telvi R, Chaussain JL et al. Failure of testicular development associated with a rearrangement of 9p24. I proximal to the SNF2 gene. Hum Genet 1998: 102: 151-156.
    • (1998) Hum Genet , vol.102 , pp. 151-156
    • Ion, R.1    Telvi, R.2    Chaussain, J.L.3
  • 30
    • 17344374326 scopus 로고    scopus 로고
    • An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family
    • Slaney SF, Chalmers IJ, Affara NA, Chitty LS. An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family. J Med Genet 1998: 35 (1): 17-22.
    • (1998) J Med Genet , vol.35 , Issue.1 , pp. 17-22
    • Slaney, S.F.1    Chalmers, I.J.2    Affara, N.A.3    Chitty, L.S.4
  • 31
    • 0027957103 scopus 로고
    • A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
    • Bardoni B, Zanaria E, Guioli S et al. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 1994: 7: 497-501.
    • (1994) Nat Genet , vol.7 , pp. 497-501
    • Bardoni, B.1    Zanaria, E.2    Guioli, S.3
  • 32
    • 0028135336 scopus 로고
    • Campomelic dysplasia and autosomal sex reversal caused by mutations in SRY-related gene
    • Foster JW, Dominguez-Steglich MA, Guioli S et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in SRY-related gene. Nature 1994: 327: 525-530.
    • (1994) Nature , vol.327 , pp. 525-530
    • Foster, J.W.1    Dominguez-Steglich, M.A.2    Guioli, S.3
  • 33
    • 0028589588 scopus 로고
    • Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
    • Wagner T, Wirth J, Meyer J et al. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 1994: 79: 1111-1120.
    • (1994) Cell , vol.79 , pp. 1111-1120
    • Wagner, T.1    Wirth, J.2    Meyer, J.3
  • 34
    • 0027324549 scopus 로고
    • Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPDI) to 17q24.3-q25.1
    • Tommerup N, Schempp W, Meinecke P et al. Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPDI) to 17q24.3-q25.1. Nat Genet 1993: 4: 170-173.
    • (1993) Nat Genet , vol.4 , pp. 170-173
    • Tommerup, N.1    Schempp, W.2    Meinecke, P.3
  • 35
    • 0030948046 scopus 로고    scopus 로고
    • Mutation in SRY and SOX9: Testis determining genes
    • Cameron FJ, Sinclair AH. Mutation in SRY and SOX9: testis determining genes. Hum Mut 1997: 9: 388-395.
    • (1997) Hum Mut , vol.9 , pp. 388-395
    • Cameron, F.J.1    Sinclair, A.H.2
  • 37
    • 0032031962 scopus 로고    scopus 로고
    • Interaction between SRY and SOX genes in mammalian sex determination
    • Graves JAM. Interaction between SRY and SOX genes in mammalian sex determination. Bioessays 1998: 20: 264-269.
    • (1998) Bioessays , vol.20 , pp. 264-269
    • Graves, J.A.M.1
  • 38
    • 0027985785 scopus 로고
    • Tylosis oesophageal cancer mapped
    • Risk JM, Field EA, Field JK et al. Tylosis oesophageal cancer mapped. Nat Genet 1994: 8: 319-321.
    • (1994) Nat Genet , vol.8 , pp. 319-321
    • Risk, J.M.1    Field, E.A.2    Field, J.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.