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Volumn 46, Issue 5, 2009, Pages 541-544

Coding region of IRF6 gene may not be causal for Van der Woude syndrome in cases from India

Author keywords

India; IRF6; Van der Woude syndrome

Indexed keywords

INTERFERON REGULATORY FACTOR 6;

EID: 69949159209     PISSN: 10556656     EISSN: 15451569     Source Type: Journal    
DOI: 10.1597/08-202.1     Document Type: Article
Times cited : (7)

References (16)
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    • 85061075076 scopus 로고    scopus 로고
    • MTHFR 677 TT alone and IRF6 820GG together with MTHFR 677 CT but not MTHFR A1298C are risks for nonsyndromic cleft lip with or without cleft palate in an Indian population
    • in press
    • Ali A, Singh SK, Raman R. MTHFR 677 TT alone and IRF6 820GG together with MTHFR 677 CT but not MTHFR A1298C are risks for nonsyndromic cleft lip with or without cleft palate in an Indian population. Genetic Testing and Molecular Biomarkers (in press).
    • Genetic Testing and Molecular Biomarkers
    • Ali, A.1    Singh, S.K.2    Raman, R.3
  • 2
    • 34548073164 scopus 로고    scopus 로고
    • A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome
    • Brosch S, Baur M, Blin N, Reinert S, Pfister M. A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome. Int J Mol Med. 2007;20:85-89.
    • (2007) Int J Mol Med , vol.20 , pp. 85-89
    • Brosch, S.1    Baur, M.2    Blin, N.3    Reinert, S.4    Pfister, M.5
  • 4
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variations
    • den Dunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet. 2001;109:121-124.
    • (2001) Hum Genet , vol.109 , pp. 121-124
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 8
    • 33845597334 scopus 로고    scopus 로고
    • A novel missense mutation in Van der Woude syndrome: Usefulness of fingernail DNA for genetic analysis
    • DOI 10.1177/154405910608501215
    • Matsuzawa N, Shimozato K, Natsume N, Niikawa N, Yoshiura K. A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis. J Dent Res. 2006;85:1143-1146. (Pubitemid 44935537)
    • (2006) Journal of Dental Research , vol.85 , Issue.12 , pp. 1143-1146
    • Matsuzawa, N.1    Shimozato, K.2    Natsume, N.3    Niikawa, N.4    Yoshiura, K.5
  • 11
    • 0018843742 scopus 로고
    • The penetrance and variable expression of the Van der Woude syndrome: Implications for genetic counseling
    • Shprintzen RJ, Goldberg RB, Sidoti EJ. The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling. Cleft Palate J. 1980;17:52-57. (Pubitemid 10162676)
    • (1980) Cleft Palate Journal , vol.17 , Issue.1 , pp. 52-57
    • Shprintzen, R.J.1    Goldberg, R.B.2    Sidoti, E.J.3
  • 12
    • 47649090695 scopus 로고    scopus 로고
    • Identification of IRF6 gene variants in three families with Van der Woude syndrome
    • Tan EC, Lim EC, Yap SH, Lee ST, Cheng J, Por YC, Yeow V. Identification of IRF6 gene variants in three families with Van der Woude syndrome. Int J Mol Med. 2008;21:747-751.
    • (2008) Int J Mol Med , vol.21 , pp. 747-751
    • Tan, E.C.1    Lim, E.C.2    Yap, S.H.3    Lee, S.T.4    Cheng, J.5    Por, Y.C.6    Yeow, V.7
  • 13
    • 84920239533 scopus 로고
    • Fistula labii inferioris congenita and its association with cleft lip and palate
    • Van der Woude A. Fistula labii inferioris congenita and its association with cleft lip and palate. Am J Hum Genet. 1954;6:244-256.
    • (1954) Am J Hum Genet , vol.6 , pp. 244-256
    • Van Der Woude, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.