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Volumn 47, Issue 2, 2010, Pages 162-166

Oral-facial-digital syndrome type 1: Oral features in 12 patients submitted to clinical and radiographic examination

Author keywords

Cleft lip and or palate; Craniofacial malformations; Orofaciodigital syndrome

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE ASSOCIATION; DYSOSTOSIS; HUMAN; MOUTH MALFORMATION; PRIORITY JOURNAL; RADIODIAGNOSIS;

EID: 77749307280     PISSN: 10556656     EISSN: 15451569     Source Type: Journal    
DOI: 10.1597/08-200.1     Document Type: Article
Times cited : (7)

References (26)
  • 1
    • 0021253067 scopus 로고
    • Oro-facio-digital syndromes I and II: Radiological methods for diagnosis and the clinical variations
    • Anneren G, Arvidson B, Gustavson KH, Jorulf H, Carlsson G. Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations. Clin Genet. 1984;26:178-186.
    • (1984) Clin Genet , vol.26 , pp. 178-186
    • Anneren, G.1    Arvidson, B.2    Gustavson, K.H.3    Jorulf, H.4    Carlsson, G.5
  • 3
    • 0023119235 scopus 로고
    • Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum
    • Connacher AA, Forsyth CC, Stewart WK. Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum. J Med Genet. 1987;24:116-122.
    • (1987) J Med Genet , vol.24 , pp. 116-122
    • Connacher, A.A.1    Forsyth, C.C.2    Stewart, W.K.3
  • 5
    • 0023110308 scopus 로고
    • Familial orofaciodigital syndrome type 1 presenting as adult polycystic kidney disease
    • Donnai D, Kerzin-Storrar L, Harris R. Familial orofaciodigital syndrome type 1 presenting as adult polycystic kidney disease. J Med Genet. 1987;24:84-87.
    • (1987) J Med Genet , vol.24 , pp. 84-87
    • Donnai, D.1    Kerzin-Storrar, L.2    Harris, R.3
  • 6
    • 0842285973 scopus 로고    scopus 로고
    • Variations in expression of oral-facial-digital syndrome (type I): Report of two cases
    • Driva T, Franklin D, Crawford PJ. Variations in expression of oral-facial-digital syndrome (type I): report of two cases. Int J Paediatr Dent. 2004;14:61-68.
    • (2004) Int J Paediatr Dent , vol.14 , pp. 61-68
    • Driva, T.1    Franklin, D.2    Crawford, P.J.3
  • 7
    • 0030876936 scopus 로고    scopus 로고
    • The oralfacialdigital syndrome type 1 (OFD 1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3
    • Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM. The oralfacialdigital syndrome type 1 (OFD 1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. Hum Mol Genet. 1997;6:1163-1167.
    • (1997) Hum Mol Genet , vol.6 , pp. 1163-1167
    • Feather, S.A.1    Woolf, A.S.2    Donnai, D.3    Malcolm, S.4    Winter, R.M.5
  • 9
    • 35848941930 scopus 로고    scopus 로고
    • Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex
    • Giorgio G, Alfieri M, Prattichizzo C, Zullo A, Cairo S, Franco B. Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex. Mol Biol Cell. 2007;18:4397-4404.
    • (2007) Mol Biol Cell , vol.18 , pp. 4397-4404
    • Giorgio, G.1    Alfieri, M.2    Prattichizzo, C.3    Zullo, A.4    Cairo, S.5    Franco, B.6
  • 10
    • 0000624158 scopus 로고
    • Hypertrophied frenuli, oligophrenia, familial trembling and anomalies of the hand: Report of four cases in one family and a forme fruste in another
    • Gorlin RJ, Anderson VE, Scott CR. Hypertrophied frenuli, oligophrenia, familial trembling and anomalies of the hand: report of four cases in one family and a forme fruste in another. N Engl J Med. 1961;264: 486-489.
    • (1961) N Engl J Med , vol.264 , pp. 486-489
    • Gorlin, R.J.1    Anderson, V.E.2    Scott, C.R.3
  • 11
    • 4243812288 scopus 로고    scopus 로고
    • Oral-facial-digital syndromes
    • Gorlin RJ, Cohen MM Jr, Hennekam RCM, eds, New York: Oxford University Press;
    • Gorlin RJ, Cohen MM Jr, Hennekam RCM. Oral-facial-digital syndromes. In: Gorlin RJ, Cohen MM Jr, Hennekam RCM, eds. Syndromes of the Head and Neck. New York: Oxford University Press; 2001:832-843.
    • (2001) Syndromes of the Head and Neck , pp. 832-843
    • Gorlin, R.J.1    Cohen Jr, M.M.2    Hennekam, R.C.M.3
  • 12
    • 0032828792 scopus 로고    scopus 로고
    • Oral-facial-digital syndrome with y-shaped fourth metacarpals and endocardial cushion defect
    • Hsieh YC, Hou JW. Oral-facial-digital syndrome with y-shaped fourth metacarpals and endocardial cushion defect. Am J Med Genet. 1999; 86:278-281.
    • (1999) Am J Med Genet , vol.86 , pp. 278-281
    • Hsieh, Y.C.1    Hou, J.W.2
  • 13
    • 20544436245 scopus 로고    scopus 로고
    • Proteomic analysis of isolated chlamydomonas centrioles reveals orthologs of ciliary-disease genes
    • Keller LC, Romijn EP, Zamora I, Yates JR, Marshall WF. Proteomic analysis of isolated chlamydomonas centrioles reveals orthologs of ciliary-disease genes. Curr Biol. 2005;15:1090-1098.
    • (2005) Curr Biol , vol.15 , pp. 1090-1098
    • Keller, L.C.1    Romijn, E.P.2    Zamora, I.3    Yates, J.R.4    Marshall, W.F.5
  • 14
    • 38849141755 scopus 로고    scopus 로고
    • Ciliary syndromes and treatment
    • Klysik M. Ciliary syndromes and treatment. Pathol Res Pract. 2008;204: 77-88.
    • (2008) Pathol Res Pract , vol.204 , pp. 77-88
    • Klysik, M.1
  • 16
    • 13844313480 scopus 로고    scopus 로고
    • An overview of oral frena and their association with multiple syndromic and nonsyndromic conditions
    • Mintz SM, Siegel MA, Seider PJ. An overview of oral frena and their association with multiple syndromic and nonsyndromic conditions. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2005;99:321-324.
    • (2005) Oral Surg Oral Med Oral Pathol Oral Radiol Endod , vol.99 , pp. 321-324
    • Mintz, S.M.1    Siegel, M.A.2    Seider, P.J.3
  • 17
    • 0005052571 scopus 로고
    • A hereditary lethal syndrome in man
    • Mohr OL. A hereditary lethal syndrome in man. Avh Norske Videnskad Oslo. 1941;14:1-18.
    • (1941) Avh Norske Videnskad Oslo , vol.14 , pp. 1-18
    • Mohr, O.L.1
  • 18
    • 38849209662 scopus 로고
    • Une malformation hereditaire de la muquese buccale et freins anormaux.
    • Papillon-League M, Psaume J. Une malformation hereditaire de la muquese buccale et freins anormaux. Rev Stomatol. 1954;55:209.
    • (1954) Rev Stomatol , vol.55 , pp. 209
    • Papillon-League, M.1    Psaume, J.2
  • 19
    • 36448980591 scopus 로고    scopus 로고
    • Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I
    • Romero M, Franco B, del Pozo JS, Romance A. Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I. Cleft Palate Craniofac J. 2007;44:660-666.
    • (2007) Cleft Palate Craniofac J , vol.44 , pp. 660-666
    • Romero, M.1    Franco, B.2    del Pozo, J.S.3    Romance, A.4
  • 20
    • 16644375931 scopus 로고    scopus 로고
    • OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis
    • Romio L, Fry AM, Winyard PJ, Malcolm S, Woolf AS, Feather SA. OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis. J Am Soc Nephrol. 2004;15:2556-2568.
    • (2004) J Am Soc Nephrol , vol.15 , pp. 2556-2568
    • Romio, L.1    Fry, A.M.2    Winyard, P.J.3    Malcolm, S.4    Woolf, A.S.5    Feather, S.A.6
  • 21
    • 0001218187 scopus 로고
    • The oral-facial-digital syndrome: A multiple congenital condition of females with associated chromosomal abnormalities
    • Ruess AL, Pruzansky S, Lis EF, Patau K. The oral-facial-digital syndrome: a multiple congenital condition of females with associated chromosomal abnormalities. Pediatrics. 1962;29:985-995.
    • (1962) Pediatrics , vol.29 , pp. 985-995
    • Ruess, A.L.1    Pruzansky, S.2    Lis, E.F.3    Patau, K.4
  • 23
    • 30744451162 scopus 로고    scopus 로고
    • Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: A French and Belgian collaborative study
    • Thauvin-Robinet C, Cossée M, Cormier-Daire V. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet. 2006;43:54-61.
    • (2006) J Med Genet , vol.43 , pp. 54-61
    • Thauvin-Robinet, C.1    Cossée, M.2    Cormier-Daire, V.3
  • 24
    • 0024254816 scopus 로고    scopus 로고
    • Heterogeneity and variability in the oral-facial-digital syndromes
    • Toriello HV. Heterogeneity and variability in the oral-facial-digital syndromes. Am J Med Genet. 1998;4(suppl):149-159.
    • (1998) Am J Med Genet , vol.4 , Issue.SUPPL. , pp. 149-159
    • Toriello, H.V.1
  • 25
    • 0027522655 scopus 로고
    • Oral-facial-digital syndromes
    • Toriello HV. Oral-facial-digital syndromes. Clin Dysmorph. 1993;2:95-105.
    • (1993) Clin Dysmorph , vol.2 , pp. 95-105
    • Toriello, H.V.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.