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Volumn 114, Issue 3-4, 2006, Pages 351-358

Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect

Author keywords

[No Author keywords available]

Indexed keywords

GELATINASE A;

EID: 33748452843     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000094225     Document Type: Article
Times cited : (18)

References (24)
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  • 2
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    • Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level
    • Barber JCK, Reed CJ, Dahoun SP, Joyce CA: Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level. Hum Genet 104:211-218 (1999).
    • (1999) Hum Genet , vol.104 , pp. 211-218
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  • 3
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    • Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks symdrome
    • Borozdin W, Steinmann K, Albrecht B, Bottani A, Devierendt K, Leipoldt M, Kohlhase J: Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks symdrome. Hum Mutat 27:211-212 (2006).
    • (2006) Hum Mutat , vol.27 , pp. 211-212
    • Borozdin, W.1    Steinmann, K.2    Albrecht, B.3    Bottani, A.4    Devierendt, K.5    Leipoldt, M.6    Kohlhase, J.7
  • 7
    • 0028085380 scopus 로고
    • An extra band within the human 9qh+ region that behaves like the surrounding constitutive heterochromatin
    • Fernández JL, Pereira S, Campos A, Gosálvez J, Goyanes V: An extra band within the human 9qh+ region that behaves like the surrounding constitutive heterochromatin. J Med Genet 31:632-634 (1994).
    • (1994) J Med Genet , vol.31 , pp. 632-634
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    • A new variant of chromosome 16?
    • Friend N, Barber J: A new variant of chromosome 16? J Med Genet 35 Suppl 1:S47 (1998).
    • (1998) J Med Genet , vol.35 , Issue.1 SUPPL.
    • Friend, N.1    Barber, J.2
  • 11
    • 0025279084 scopus 로고
    • Direct duplication 16q11.1 → 16q13 is not associated with a typical dysmorphic syndrome
    • Fryns JP, Kleczkowska A, Decock P, van den Berghe H: Direct duplication 16q11.1 → 16q13 is not associated with a typical dysmorphic syndrome. Ann Genet 33:46-48 (1990).
    • (1990) Ann Genet , vol.33 , pp. 46-48
    • Fryns, J.P.1    Kleczkowska, A.2    Decock, P.3    Van Den Berghe, H.4
  • 12
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile-X site results in genetic instability - Resolution of the Sherman paradox
    • Fu YH, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJA, et al: Variation of the CGG repeat at the fragile-X site results in genetic instability - resolution of the Sherman paradox. Cell 67:1047-1058 (1991).
    • (1991) Cell , vol.67 , pp. 1047-1058
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    • Long-range control of gene expression: Emerging mechanisms and disruption in disease
    • Kleinjan DA, van Heyningen V: Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 76:8-32 (2005).
    • (2005) Am J Hum Genet , vol.76 , pp. 8-32
    • Kleinjan, D.A.1    Van Heyningen, V.2
  • 16
    • 0025964925 scopus 로고
    • Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay
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  • 17
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    • Inverted duplication of chromosome 16 characterised by high resolution multicolour banding (MCB) FISH techniques in a child with congenital abnormalities
    • Polityko AD, Rumyantseva NV, Starke H, Liehr T: Inverted duplication of chromosome 16 characterised by high resolution multicolour banding (MCB) FISH techniques in a child with congenital abnormalities. Chromosome Res 13:Suppl 1:36 (2005).
    • (2005) Chromosome Res , vol.13 , Issue.1 SUPPL. , pp. 36
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    • A novel human DNA polymorphism resulting from transfer of DNA from chromosome 6 to chromosome 16
    • Wong Z, Royle NA, Jeffreys AJ: A novel human DNA polymorphism resulting from transfer of DNA from chromosome 6 to chromosome 16. Genomics 7:222-234 (1990).
    • (1990) Genomics , vol.7 , pp. 222-234
    • Wong, Z.1    Royle, N.A.2    Jeffreys, A.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.