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Volumn 89, Issue 2, 2008, Pages 458-460

High incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45,X/46,XY gonadal dysgenesis

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME DELETION Y; CHROMOSOME NOR; FLUORESCENCE IN SITU HYBRIDIZATION; GONADAL DYSGENESIS; HUMAN; KARYOTYPING; MOSAICISM; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 38949191627     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2007.02.058     Document Type: Article
Times cited : (19)

References (9)
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    • Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis
    • Álvarez-Nava F., Soto M., Borjas L., Ortiz R., Rojas A., Martínez S., et al. Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis. Ann Genet 44 (2001) 155-159
    • (2001) Ann Genet , vol.44 , pp. 155-159
    • Álvarez-Nava, F.1    Soto, M.2    Borjas, L.3    Ortiz, R.4    Rojas, A.5    Martínez, S.6
  • 2
    • 0034351406 scopus 로고    scopus 로고
    • A mutation in the 5′ nonhigh mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism
    • Canto P., de la Chesnaye E., Lopez M., Cervantes A., Chavez B., Vilchis F., et al. A mutation in the 5′ nonhigh mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism. J Clin Endocrinol Metab 85 (2000) 1908-1911
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 1908-1911
    • Canto, P.1    de la Chesnaye, E.2    Lopez, M.3    Cervantes, A.4    Chavez, B.5    Vilchis, F.6
  • 4
    • 20344383505 scopus 로고    scopus 로고
    • Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability
    • Patsalis P.C., Skordis N., Sismani C., Kousoulidou L., Koumbaris G., Eftychi C., et al. Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability. Am J Med Genet 135 (2005) 145-149
    • (2005) Am J Med Genet , vol.135 , pp. 145-149
    • Patsalis, P.C.1    Skordis, N.2    Sismani, C.3    Kousoulidou, L.4    Koumbaris, G.5    Eftychi, C.6
  • 5
    • 0035184973 scopus 로고    scopus 로고
    • The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
    • Kuroda-Kawaguchi T., Skaletsky H., Brown L.G., Minx P.J., Cordum H.S., Waterston R.H., et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29 (2001) 279-286
    • (2001) Nat Genet , vol.29 , pp. 279-286
    • Kuroda-Kawaguchi, T.1    Skaletsky, H.2    Brown, L.G.3    Minx, P.J.4    Cordum, H.S.5    Waterston, R.H.6
  • 6
    • 0027452163 scopus 로고
    • True hermaphroditism in a 46,XY individual caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case
    • Braun A., Kammerer S., Cleve H., Löhrs U., Scwarz H.P., and Kuhnle U. True hermaphroditism in a 46,XY individual caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case. Am J Hum Genet 52 (1993) 578-585
    • (1993) Am J Hum Genet , vol.52 , pp. 578-585
    • Braun, A.1    Kammerer, S.2    Cleve, H.3    Löhrs, U.4    Scwarz, H.P.5    Kuhnle, U.6
  • 7
    • 0028929131 scopus 로고
    • Detection of Y chromosome sequences in a 45,X/46,XXq- patient by Southern blot of PCR-amplified DNA and fluorescent in situ hybridization (FISH)
    • Kocova M., Siegel S., Wenger S.L., Lee P., and Trucco M. Detection of Y chromosome sequences in a 45,X/46,XXq- patient by Southern blot of PCR-amplified DNA and fluorescent in situ hybridization (FISH). Am J Med Genet 55 (1995) 483-488
    • (1995) Am J Med Genet , vol.55 , pp. 483-488
    • Kocova, M.1    Siegel, S.2    Wenger, S.L.3    Lee, P.4    Trucco, M.5
  • 8
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    • Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm
    • Elliott D.J., Millar M.R., Oghene K., Ross A., Kiesewetter F., Pryor J., et al. Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Proc Natl Acad Sci U S A 94 (1997) 3848-3853
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 3848-3853
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  • 9
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    • A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans
    • Xu E.Y., Moore F.L., and Pera R.A. A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans. Proc Natl Acad Sci U S A 98 (2001) 7414-7419
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 7414-7419
    • Xu, E.Y.1    Moore, F.L.2    Pera, R.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.