메뉴 건너뛰기




Volumn 71, Issue 10, 2007, Pages 1509-1519

Human genetic factors in nonsyndromic cleft lip and palate: An update

Author keywords

Cleft lip; Cleft palate; Genetic; Nonsyndromic cleft; Orofacial cleft

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); INTERFERON REGULATORY FACTOR;

EID: 34548484598     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijporl.2007.06.007     Document Type: Review
Times cited : (111)

References (129)
  • 2
    • 0014783555 scopus 로고
    • The genetics of cleft lip and cleft palate
    • Fraser F.C. The genetics of cleft lip and cleft palate. Am. J. Hum. Genet. 22 3 (1970) 336-352
    • (1970) Am. J. Hum. Genet. , vol.22 , Issue.3 , pp. 336-352
    • Fraser, F.C.1
  • 3
    • 0020086126 scopus 로고
    • An epidemiological and genetic study of facial clefting in France I. Epidemiology and frequency in relatives
    • Bonaiti C., et al. An epidemiological and genetic study of facial clefting in France I. Epidemiology and frequency in relatives. J. Med. Genet. 19 1 (1982) 8-15
    • (1982) J. Med. Genet. , vol.19 , Issue.1 , pp. 8-15
    • Bonaiti, C.1
  • 4
    • 0023694945 scopus 로고
    • Palate development
    • Ferguson M.W. Palate development. Development 103 Suppl. (1988) 41-60
    • (1988) Development , vol.103 , Issue.SUPPL , pp. 41-60
    • Ferguson, M.W.1
  • 6
    • 0017145488 scopus 로고
    • Risks to the offspring of women treated with hydantoin anticonvulsants, with emphasis on the fetal hydantoin syndrome
    • Hanson J.W., et al. Risks to the offspring of women treated with hydantoin anticonvulsants, with emphasis on the fetal hydantoin syndrome. J. Pediatr. 89 4 (1976) 662-668
    • (1976) J. Pediatr. , vol.89 , Issue.4 , pp. 662-668
    • Hanson, J.W.1
  • 7
    • 0029050592 scopus 로고
    • Face facts: genes, environment, and clefts
    • Murray J.C. Face facts: genes, environment, and clefts. Am. J. Hum. Genet. 57 2 (1995) 227-232
    • (1995) Am. J. Hum. Genet. , vol.57 , Issue.2 , pp. 227-232
    • Murray, J.C.1
  • 8
    • 0029656077 scopus 로고    scopus 로고
    • Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate-a Danish Registry study
    • Christensen K., and Mitchell L.E. Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate-a Danish Registry study. Am. J. Hum. Genet. 58 1 (1996) 182-190
    • (1996) Am. J. Hum. Genet. , vol.58 , Issue.1 , pp. 182-190
    • Christensen, K.1    Mitchell, L.E.2
  • 9
    • 0028096968 scopus 로고
    • Etiological subgroups in non-syndromic isolated cleft palate. A genetic-epidemiological study of 52 Danish birth cohorts
    • Christensen K., and Fogh-Andersen P. Etiological subgroups in non-syndromic isolated cleft palate. A genetic-epidemiological study of 52 Danish birth cohorts. Clin. Genet. 46 5 (1994) 329-335
    • (1994) Clin. Genet. , vol.46 , Issue.5 , pp. 329-335
    • Christensen, K.1    Fogh-Andersen, P.2
  • 10
    • 0027492864 scopus 로고
    • Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)
    • Shiang R., et al. Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO). Am. J. Hum. Genet. 53 4 (1993) 836-843
    • (1993) Am. J. Hum. Genet. , vol.53 , Issue.4 , pp. 836-843
    • Shiang, R.1
  • 11
    • 0032231873 scopus 로고    scopus 로고
    • Association of MSX1 and TGFB3 with nonsyndromic clefting in humans
    • Lidral A.C., et al. Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. Am. J. Hum. Genet. 63 2 (1998) 557-568
    • (1998) Am. J. Hum. Genet. , vol.63 , Issue.2 , pp. 557-568
    • Lidral, A.C.1
  • 12
    • 0030064383 scopus 로고    scopus 로고
    • Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3
    • Forbes S.A., et al. Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3. Genomics 31 1 (1996) 36-43
    • (1996) Genomics , vol.31 , Issue.1 , pp. 36-43
    • Forbes, S.A.1
  • 13
    • 0025133050 scopus 로고
    • Terminal deletion 6p23: a case report
    • Kormann-Bortolotto M.H., et al. Terminal deletion 6p23: a case report. Am. J. Med. Genet. 37 4 (1990) 475-477
    • (1990) Am. J. Med. Genet. , vol.37 , Issue.4 , pp. 475-477
    • Kormann-Bortolotto, M.H.1
  • 14
    • 0026849641 scopus 로고
    • Association of autosomal dominant cleft lip and palate and translocation 6p23;9q22.3
    • Donnai D., et al. Association of autosomal dominant cleft lip and palate and translocation 6p23;9q22.3. Clin. Dysmorphol. 1 2 (1992) 89-97
    • (1992) Clin. Dysmorphol. , vol.1 , Issue.2 , pp. 89-97
    • Donnai, D.1
  • 15
    • 0028816146 scopus 로고
    • Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region
    • Davies A.F., et al. Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region. Hum. Mol. Genet. 4 1 (1995) 121-128
    • (1995) Hum. Mol. Genet. , vol.4 , Issue.1 , pp. 121-128
    • Davies, A.F.1
  • 16
    • 0018888103 scopus 로고
    • Segregation of HLA in sibs with cleft lip or cleft lip and palate: evidence against genetic linkage
    • Van Dyke D.C., et al. Segregation of HLA in sibs with cleft lip or cleft lip and palate: evidence against genetic linkage. Cleft Palate J. 17 3 (1980) 189-193
    • (1980) Cleft Palate J. , vol.17 , Issue.3 , pp. 189-193
    • Van Dyke, D.C.1
  • 17
    • 0021739540 scopus 로고
    • Population and family studies of HLA in Japanese with cleft lip and cleft palate
    • Watanabe T., Ohishi M., and Tashiro H. Population and family studies of HLA in Japanese with cleft lip and cleft palate. Cleft Palate J. 21 4 (1984) 293-300
    • (1984) Cleft Palate J. , vol.21 , Issue.4 , pp. 293-300
    • Watanabe, T.1    Ohishi, M.2    Tashiro, H.3
  • 18
    • 0001251475 scopus 로고
    • Ecogenetics of congenital craniofacial malformation. International committee on the human genome
    • Mehra S., and Verma I. Ecogenetics of congenital craniofacial malformation. International committee on the human genome. Am. J. Hum. Genet. 49 Suppl. (1991) p. 150
    • (1991) Am. J. Hum. Genet. , vol.49 , Issue.SUPPL
    • Mehra, S.1    Verma, I.2
  • 19
    • 0023176710 scopus 로고
    • Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6
    • Eiberg H., et al. Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin. Genet. 32 2 (1987) 129-132
    • (1987) Clin. Genet. , vol.32 , Issue.2 , pp. 129-132
    • Eiberg, H.1
  • 20
    • 0029655610 scopus 로고    scopus 로고
    • Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6
    • Blanton S.H., et al. Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6. Am. J. Hum. Genet. 58 1 (1996) 239-241
    • (1996) Am. J. Hum. Genet. , vol.58 , Issue.1 , pp. 239-241
    • Blanton, S.H.1
  • 21
    • 0027426277 scopus 로고
    • Nonsyndromic cleft lip and palate: no evidence of linkage to HLA or factor 13A
    • Hecht J.T., et al. Nonsyndromic cleft lip and palate: no evidence of linkage to HLA or factor 13A. Am. J. Hum. Genet. 52 6 (1993) 1230-1233
    • (1993) Am. J. Hum. Genet. , vol.52 , Issue.6 , pp. 1230-1233
    • Hecht, J.T.1
  • 22
    • 0027295566 scopus 로고
    • Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies
    • Vintiner G.M., et al. Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies. J. Med. Genet. 30 9 (1993) 773-778
    • (1993) J. Med. Genet. , vol.30 , Issue.9 , pp. 773-778
    • Vintiner, G.M.1
  • 23
    • 0028797751 scopus 로고
    • Nonsyndromic cleft lip and palate: evidence of linkage to a microsatellite marker on 6p23
    • Carinci F., et al. Nonsyndromic cleft lip and palate: evidence of linkage to a microsatellite marker on 6p23. Am. J. Hum. Genet. 56 1 (1995) 337-339
    • (1995) Am. J. Hum. Genet. , vol.56 , Issue.1 , pp. 337-339
    • Carinci, F.1
  • 24
    • 0033793517 scopus 로고    scopus 로고
    • Linkage analysis of candidate endothelin pathway genes in nonsyndromic familial orofacial cleft
    • Pezzetti F., et al. Linkage analysis of candidate endothelin pathway genes in nonsyndromic familial orofacial cleft. Ann. Hum. Genet. 64 Pt 4 (2000) 341-347
    • (2000) Ann. Hum. Genet. , vol.64 , Issue.PART 4 , pp. 341-347
    • Pezzetti, F.1
  • 25
    • 0001699208 scopus 로고    scopus 로고
    • Screening endothelin-1 by SSCP analysis for mutations associated with nonsyndromic cleft lip and palate in individuals of Filipino origin
    • Schultz R.E., McColley A., and Murray J.C. Screening endothelin-1 by SSCP analysis for mutations associated with nonsyndromic cleft lip and palate in individuals of Filipino origin. Am. J. Hum. Genet. 65 suppl. (1999) p. 444
    • (1999) Am. J. Hum. Genet. , vol.65 , Issue.SUPPL
    • Schultz, R.E.1    McColley, A.2    Murray, J.C.3
  • 26
    • 10744232616 scopus 로고    scopus 로고
    • Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families
    • Schultz R.E., et al. Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families. Am. J. Med. Genet. A 125 1 (2004) 17-22
    • (2004) Am. J. Med. Genet. A , vol.125 , Issue.1 , pp. 17-22
    • Schultz, R.E.1
  • 27
    • 1442332964 scopus 로고    scopus 로고
    • Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio
    • Moreno L.M., et al. Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio. Am. J. Med. Genet. A 125 2 (2004) 135-144
    • (2004) Am. J. Med. Genet. A , vol.125 , Issue.2 , pp. 135-144
    • Moreno, L.M.1
  • 28
    • 0024432231 scopus 로고
    • Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate
    • Ardinger H.H., et al. Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am. J. Hum. Genet. 45 3 (1989) 348-353
    • (1989) Am. J. Hum. Genet. , vol.45 , Issue.3 , pp. 348-353
    • Ardinger, H.H.1
  • 29
    • 0025762595 scopus 로고
    • Further evidence for an association between genetic variation in transforming growth factor alpha and cleft lip and palate
    • Chenevix-Trench G., et al. Further evidence for an association between genetic variation in transforming growth factor alpha and cleft lip and palate. Am. J. Hum. Genet. 48 5 (1991) 1012-1013
    • (1991) Am. J. Hum. Genet. , vol.48 , Issue.5 , pp. 1012-1013
    • Chenevix-Trench, G.1
  • 30
    • 0026620226 scopus 로고
    • Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci
    • Chenevix-Trench G., et al. Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci. Am. J. Hum. Genet. 51 6 (1992) 1377-1385
    • (1992) Am. J. Hum. Genet. , vol.51 , Issue.6 , pp. 1377-1385
    • Chenevix-Trench, G.1
  • 31
    • 0026763353 scopus 로고
    • Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate
    • Holder S.E., et al. Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate. J. Med. Genet. 29 6 (1992) 390-392
    • (1992) J. Med. Genet. , vol.29 , Issue.6 , pp. 390-392
    • Holder, S.E.1
  • 32
    • 0027518733 scopus 로고
    • Association between alleles of the transforming growth factor-alpha locus and the occurrence of cleft lip
    • Sassani R., et al. Association between alleles of the transforming growth factor-alpha locus and the occurrence of cleft lip. Am. J. Med. Genet. 45 5 (1993) 565-569
    • (1993) Am. J. Med. Genet. , vol.45 , Issue.5 , pp. 565-569
    • Sassani, R.1
  • 33
    • 0027305347 scopus 로고
    • Genetic variation in transforming growth factor alpha: possible association of BamHI polymorphism with bilateral sporadic cleft lip and palate
    • Stoll C., et al. Genetic variation in transforming growth factor alpha: possible association of BamHI polymorphism with bilateral sporadic cleft lip and palate. Hum. Genet. 92 1 (1993) 81-82
    • (1993) Hum. Genet. , vol.92 , Issue.1 , pp. 81-82
    • Stoll, C.1
  • 34
    • 0029043080 scopus 로고
    • Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population
    • Jara L., et al. Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population. Am. J. Med. Genet. 57 4 (1995) 548-551
    • (1995) Am. J. Med. Genet. , vol.57 , Issue.4 , pp. 548-551
    • Jara, L.1
  • 35
    • 0026092169 scopus 로고
    • Cleft lip and palate: no evidence of linkage to transforming growth factor alpha
    • Hecht J.T., et al. Cleft lip and palate: no evidence of linkage to transforming growth factor alpha. Am. J. Hum. Genet. 49 3 (1991) 682-686
    • (1991) Am. J. Hum. Genet. , vol.49 , Issue.3 , pp. 682-686
    • Hecht, J.T.1
  • 36
    • 0026684102 scopus 로고
    • No evidence of linkage between the transforming growth factor-alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate
    • Vintiner G.M., et al. No evidence of linkage between the transforming growth factor-alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate. J. Med. Genet. 29 6 (1992) 393-397
    • (1992) J. Med. Genet. , vol.29 , Issue.6 , pp. 393-397
    • Vintiner, G.M.1
  • 37
    • 0028145109 scopus 로고
    • Transforming growth factor alpha: a modifying locus for nonsyndromic cleft lip with or without cleft palate?
    • Field L.L., Ray A.K., and Marazita M.L. Transforming growth factor alpha: a modifying locus for nonsyndromic cleft lip with or without cleft palate?. Eur. J. Hum. Genet. 2 3 (1994) 159-165
    • (1994) Eur. J. Hum. Genet. , vol.2 , Issue.3 , pp. 159-165
    • Field, L.L.1    Ray, A.K.2    Marazita, M.L.3
  • 38
    • 0030968374 scopus 로고    scopus 로고
    • No evidence of linkage for cleft lip with or without cleft palate to a marker near the transforming growth factor alpha locus in two populations
    • Wyszynski D.F., et al. No evidence of linkage for cleft lip with or without cleft palate to a marker near the transforming growth factor alpha locus in two populations. Hum. Hered. 47 2 (1997) 101-109
    • (1997) Hum. Hered. , vol.47 , Issue.2 , pp. 101-109
    • Wyszynski, D.F.1
  • 39
    • 0029079365 scopus 로고
    • Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families
    • Stein J., et al. Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families. Am. J. Hum. Genet. 57 2 (1995) 257-272
    • (1995) Am. J. Hum. Genet. , vol.57 , Issue.2 , pp. 257-272
    • Stein, J.1
  • 40
    • 0031973663 scopus 로고    scopus 로고
    • Lack of linkage disequilibrium between transforming growth factor alpha Taq I polymorphism and cleft lip with or without cleft palate in families from Northeastern Italy
    • Scapoli L., et al. Lack of linkage disequilibrium between transforming growth factor alpha Taq I polymorphism and cleft lip with or without cleft palate in families from Northeastern Italy. Am. J. Med. Genet. 75 2 (1998) 203-206
    • (1998) Am. J. Med. Genet. , vol.75 , Issue.2 , pp. 203-206
    • Scapoli, L.1
  • 41
    • 0027467323 scopus 로고
    • Resolving an apparent paradox concerning the role of TGFA in CL/P
    • Farrall M., Buetow K.H., and Murray J.C. Resolving an apparent paradox concerning the role of TGFA in CL/P. Am. J. Hum. Genet. 52 2 (1993) 434-437
    • (1993) Am. J. Hum. Genet. , vol.52 , Issue.2 , pp. 434-437
    • Farrall, M.1    Buetow, K.H.2    Murray, J.C.3
  • 42
    • 0028004410 scopus 로고
    • Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate
    • Feng H., et al. Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate. Am. J. Hum. Genet. 55 5 (1994) 932-936
    • (1994) Am. J. Hum. Genet. , vol.55 , Issue.5 , pp. 932-936
    • Feng, H.1
  • 43
    • 0030993005 scopus 로고    scopus 로고
    • Transforming growth factor alpha locus and nonsyndromic cleft lip with or without cleft palate: a reappraisal
    • Mitchell L.E. Transforming growth factor alpha locus and nonsyndromic cleft lip with or without cleft palate: a reappraisal. Genet. Epidemiol. 14 3 (1997) 231-240
    • (1997) Genet. Epidemiol. , vol.14 , Issue.3 , pp. 231-240
    • Mitchell, L.E.1
  • 44
    • 0030029864 scopus 로고    scopus 로고
    • Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants
    • Shaw G.M., et al. Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants. Am. J. Hum. Genet. 58 3 (1996) 551-561
    • (1996) Am. J. Hum. Genet. , vol.58 , Issue.3 , pp. 551-561
    • Shaw, G.M.1
  • 45
    • 0032526776 scopus 로고    scopus 로고
    • A locus in 2p13-p14 (OFC2), in addition to that mapped in 6p23, is involved in nonsyndromic familial orofacial cleft malformation
    • Pezzetti F., et al. A locus in 2p13-p14 (OFC2), in addition to that mapped in 6p23, is involved in nonsyndromic familial orofacial cleft malformation. Genomics 50 3 (1998) 299-305
    • (1998) Genomics , vol.50 , Issue.3 , pp. 299-305
    • Pezzetti, F.1
  • 46
    • 0036079141 scopus 로고    scopus 로고
    • Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families
    • Marazita M.L., et al. Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families. Am. J. Hum. Genet. 71 2 (2002) 349-364
    • (2002) Am. J. Hum. Genet. , vol.71 , Issue.2 , pp. 349-364
    • Marazita, M.L.1
  • 47
    • 0029763294 scopus 로고    scopus 로고
    • Nonsyndromic cleft lip with or without cleft palate: new BCL3 information
    • Amos C., Gasser D., and Hecht J.T. Nonsyndromic cleft lip with or without cleft palate: new BCL3 information. Am. J. Hum. Genet. 59 3 (1996) 743-744
    • (1996) Am. J. Hum. Genet. , vol.59 , Issue.3 , pp. 743-744
    • Amos, C.1    Gasser, D.2    Hecht, J.T.3
  • 48
    • 0029782332 scopus 로고    scopus 로고
    • Nonsyndromic cleft lip with or without cleft palate: erratum
    • Amos C., et al. Nonsyndromic cleft lip with or without cleft palate: erratum. Am. J. Hum. Genet. 59 3 (1996) p. 744
    • (1996) Am. J. Hum. Genet. , vol.59 , Issue.3
    • Amos, C.1
  • 49
    • 0031060648 scopus 로고    scopus 로고
    • Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families
    • Wyszynski D.F., et al. Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families. Hum. Genet. 99 1 (1997) 22-26
    • (1997) Hum. Genet. , vol.99 , Issue.1 , pp. 22-26
    • Wyszynski, D.F.1
  • 50
    • 0032528105 scopus 로고    scopus 로고
    • Suggestive linkage between markers on chromosome 19q13.2 and nonsyndromic orofacial cleft malformation
    • Martinelli M., et al. Suggestive linkage between markers on chromosome 19q13.2 and nonsyndromic orofacial cleft malformation. Genomics 51 2 (1998) 177-181
    • (1998) Genomics , vol.51 , Issue.2 , pp. 177-181
    • Martinelli, M.1
  • 51
    • 33745489835 scopus 로고    scopus 로고
    • Genetic evidence for the role of loci at 19q13 in cleft lip and palate
    • Warrington A., et al. Genetic evidence for the role of loci at 19q13 in cleft lip and palate. J. Med. Genet. 43 6 (2006) p. e26
    • (2006) J. Med. Genet. , vol.43 , Issue.6
    • Warrington, A.1
  • 52
    • 0028130047 scopus 로고
    • Possible localization of a major gene for cleft lip and palate to 4q
    • Beiraghi S., et al. Possible localization of a major gene for cleft lip and palate to 4q. Clin. Genet. 46 3 (1994) 255-256
    • (1994) Clin. Genet. , vol.46 , Issue.3 , pp. 255-256
    • Beiraghi, S.1
  • 53
    • 0028970498 scopus 로고
    • Evidence for an association between nonsyndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4
    • Mitchell L.E., Healey S.C., and Chenevix-Trench G. Evidence for an association between nonsyndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4. Am. J. Hum. Genet. 57 5 (1995) 1130-1136
    • (1995) Am. J. Hum. Genet. , vol.57 , Issue.5 , pp. 1130-1136
    • Mitchell, L.E.1    Healey, S.C.2    Chenevix-Trench, G.3
  • 54
    • 0037464551 scopus 로고    scopus 로고
    • Identification and characterization of a novel gene disrupted by a pericentric inversion inv (4)(p13.1q21. 1) in a family with cleft lip
    • Beiraghi S., et al. Identification and characterization of a novel gene disrupted by a pericentric inversion inv (4)(p13.1q21. 1) in a family with cleft lip. Genetics 309 1 (2003) 11-21
    • (2003) Genetics , vol.309 , Issue.1 , pp. 11-21
    • Beiraghi, S.1
  • 55
    • 18444401774 scopus 로고    scopus 로고
    • No evidence for linkage and association between 4q microsatellite markers and nonsyndromic cleft lip and palate in Chilean case-parents trios
    • Blanco R., et al. No evidence for linkage and association between 4q microsatellite markers and nonsyndromic cleft lip and palate in Chilean case-parents trios. Cleft Palate Craniofac. J. 42 3 (2005) 267-271
    • (2005) Cleft Palate Craniofac. J. , vol.42 , Issue.3 , pp. 267-271
    • Blanco, R.1
  • 56
    • 8044231337 scopus 로고    scopus 로고
    • Studies of the candidate genes TGFB2, MSX1, TGFA, and TGFB3 in the etiology of cleft lip and palate in the Philippines
    • Lidral A.C., et al. Studies of the candidate genes TGFB2, MSX1, TGFA, and TGFB3 in the etiology of cleft lip and palate in the Philippines. Cleft Palate Craniofac. J. 34 1 (1997) 1-6
    • (1997) Cleft Palate Craniofac. J. , vol.34 , Issue.1 , pp. 1-6
    • Lidral, A.C.1
  • 57
    • 0032989710 scopus 로고    scopus 로고
    • Candidate genes for nonsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: evaluation of genotype-environment interactions from a population-based case-control study of orofacial clefts
    • Romitti P.A., et al. Candidate genes for nonsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: evaluation of genotype-environment interactions from a population-based case-control study of orofacial clefts. Teratology 59 1 (1999) 39-50
    • (1999) Teratology , vol.59 , Issue.1 , pp. 39-50
    • Romitti, P.A.1
  • 58
    • 0034028899 scopus 로고    scopus 로고
    • MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
    • Van den Boogaard M.J., et al. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat. Genet. 24 4 (2000) 342-343
    • (2000) Nat. Genet. , vol.24 , Issue.4 , pp. 342-343
    • Van den Boogaard, M.J.1
  • 59
    • 0030017452 scopus 로고    scopus 로고
    • A human MSX1 homeodomain missense mutation causes selective tooth agenesis
    • Vastardis H., et al. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat. Genet. 13 4 (1996) 417-421
    • (1996) Nat. Genet. , vol.13 , Issue.4 , pp. 417-421
    • Vastardis, H.1
  • 60
    • 0022745244 scopus 로고
    • A review of tooth formation in children with cleft lip/palate
    • Ranta R. A review of tooth formation in children with cleft lip/palate. Am. J. Orthod. Dentofac. Orthop. 90 1 (1986) 11-18
    • (1986) Am. J. Orthod. Dentofac. Orthop. , vol.90 , Issue.1 , pp. 11-18
    • Ranta, R.1
  • 61
    • 0038545785 scopus 로고    scopus 로고
    • Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate
    • Jezewski P.A., et al. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J. Med. Genet. 40 6 (2003) 399-407
    • (2003) J. Med. Genet. , vol.40 , Issue.6 , pp. 399-407
    • Jezewski, P.A.1
  • 62
    • 2642522952 scopus 로고    scopus 로고
    • In a Vietnamese population. MSX1 variants contribute to cleft lip and palate
    • Suzuki Y., et al. In a Vietnamese population. MSX1 variants contribute to cleft lip and palate. Genet. Med. 6 3 (2004) 117-125
    • (2004) Genet. Med. , vol.6 , Issue.3 , pp. 117-125
    • Suzuki, Y.1
  • 63
    • 34547516140 scopus 로고    scopus 로고
    • Medical sequencing of candidate genes for nonsyndromic cleft lip and palate
    • Vieira A.R., et al. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet. 1 6 (2005) p. e64
    • (2005) PLoS Genet. , vol.1 , Issue.6
    • Vieira, A.R.1
  • 64
    • 77952880032 scopus 로고    scopus 로고
    • MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population
    • Tongkobpetch S., Siriwan P., and Shotelersuk V. MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population. J. Hum. Genet. 51 8 (2006) 671-676
    • (2006) J. Hum. Genet. , vol.51 , Issue.8 , pp. 671-676
    • Tongkobpetch, S.1    Siriwan, P.2    Shotelersuk, V.3
  • 65
    • 18644374446 scopus 로고    scopus 로고
    • Mutations in IRF6 cause van der Woude and popliteal pterygium syndromes
    • Kondo S., et al. Mutations in IRF6 cause van der Woude and popliteal pterygium syndromes. Nat. Genet. 32 2 (2002) 285-289
    • (2002) Nat. Genet. , vol.32 , Issue.2 , pp. 285-289
    • Kondo, S.1
  • 66
    • 0026693598 scopus 로고
    • Van der Woude syndrome and nonsyndromic cleft lip and palate
    • Hecht J.T., et al. Van der Woude syndrome and nonsyndromic cleft lip and palate. Am. J. Hum. Genet. 51 2 (1992) 442-444
    • (1992) Am. J. Hum. Genet. , vol.51 , Issue.2 , pp. 442-444
    • Hecht, J.T.1
  • 67
    • 0035889326 scopus 로고    scopus 로고
    • Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P)
    • Houdayer C., et al. Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P). Am. J. Med. Genet. 104 1 (2001) 86-92
    • (2001) Am. J. Med. Genet. , vol.104 , Issue.1 , pp. 86-92
    • Houdayer, C.1
  • 68
    • 4143115809 scopus 로고    scopus 로고
    • Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate
    • Zucchero T.M., et al. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N. Engl. J. Med. 351 8 (2004) 769-780
    • (2004) N. Engl. J. Med. , vol.351 , Issue.8 , pp. 769-780
    • Zucchero, T.M.1
  • 69
    • 11144322225 scopus 로고    scopus 로고
    • Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population
    • Scapoli L., et al. Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. Am. J. Hum. Genet. 76 1 (2005) 180-183
    • (2005) Am. J. Hum. Genet. , vol.76 , Issue.1 , pp. 180-183
    • Scapoli, L.1
  • 70
    • 24344438085 scopus 로고    scopus 로고
    • Variation in IRF6 contributes to nonsyndromic cleft lip and palate
    • Blanton S.H., et al. Variation in IRF6 contributes to nonsyndromic cleft lip and palate. Am. J. Med. Genet. A 137 3 (2005) 259-262
    • (2005) Am. J. Med. Genet. A , vol.137 , Issue.3 , pp. 259-262
    • Blanton, S.H.1
  • 71
    • 0032231377 scopus 로고    scopus 로고
    • Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23
    • Suzuki K., Bustos T., and Spritz R.A. Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23. Am. J. Hum. Genet. 63 4 (1998) 1102-1107
    • (1998) Am. J. Hum. Genet. , vol.63 , Issue.4 , pp. 1102-1107
    • Suzuki, K.1    Bustos, T.2    Spritz, R.A.3
  • 72
    • 0034425423 scopus 로고    scopus 로고
    • Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
    • Suzuki K., et al. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat. Genet. 25 4 (2000) 427-430
    • (2000) Nat. Genet. , vol.25 , Issue.4 , pp. 427-430
    • Suzuki, K.1
  • 73
    • 0034789530 scopus 로고    scopus 로고
    • Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela
    • Sozen M.A., et al. Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. Nat. Genet. 29 2 (2001) 141-142
    • (2001) Nat. Genet. , vol.29 , Issue.2 , pp. 141-142
    • Sozen, M.A.1
  • 74
    • 2442616925 scopus 로고    scopus 로고
    • Investigation of the W185X nonsense mutation of PVRL1 gene in Italian nonsyndromic cleft lip and palate patients
    • Scapoli L., et al. Investigation of the W185X nonsense mutation of PVRL1 gene in Italian nonsyndromic cleft lip and palate patients. Am. J. Med. Genet. A 127 2 (2004) p. 211
    • (2004) Am. J. Med. Genet. A , vol.127 , Issue.2
    • Scapoli, L.1
  • 75
    • 33645730680 scopus 로고    scopus 로고
    • Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate
    • Scapoli L., et al. Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. Ann. Hum. Genet. 70 Pt 3 (2006) 410-413
    • (2006) Ann. Hum. Genet. , vol.70 , Issue.PART 3 , pp. 410-413
    • Scapoli, L.1
  • 76
    • 24644469155 scopus 로고    scopus 로고
    • Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate
    • Turhani D., et al. Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate. J. Craniomaxillofac. Surg. 33 5 (2005) 301-306
    • (2005) J. Craniomaxillofac. Surg. , vol.33 , Issue.5 , pp. 301-306
    • Turhani, D.1
  • 77
    • 33845246849 scopus 로고    scopus 로고
    • PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations
    • Avila J.R., et al. PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. Am. J. Med. Genet. A 140 23 (2006) 2562-2570
    • (2006) Am. J. Med. Genet. A , vol.140 , Issue.23 , pp. 2562-2570
    • Avila, J.R.1
  • 78
    • 0032744735 scopus 로고    scopus 로고
    • Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
    • Celli J., et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99 2 (1999) 143-153
    • (1999) Cell , vol.99 , Issue.2 , pp. 143-153
    • Celli, J.1
  • 79
    • 0033926317 scopus 로고    scopus 로고
    • Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27
    • Ianakiev P., et al. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am. J. Hum. Genet. 67 1 (2000) 59-66
    • (2000) Am. J. Hum. Genet. , vol.67 , Issue.1 , pp. 59-66
    • Ianakiev, P.1
  • 80
    • 0035253507 scopus 로고    scopus 로고
    • Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
    • McGrath J.A., et al. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum. Mol. Genet. 10 3 (2001) 221-229
    • (2001) Hum. Mol. Genet. , vol.10 , Issue.3 , pp. 221-229
    • McGrath, J.A.1
  • 82
    • 0037108134 scopus 로고    scopus 로고
    • P63 gene mutations and human developmental syndromes
    • Brunner H.G., Hamel B.C., and Van Bokhoven H. P63 gene mutations and human developmental syndromes. Am. J. Med. Genet. 112 3 (2002) 284-290
    • (2002) Am. J. Med. Genet. , vol.112 , Issue.3 , pp. 284-290
    • Brunner, H.G.1    Hamel, B.C.2    Van Bokhoven, H.3
  • 83
    • 0037493688 scopus 로고    scopus 로고
    • Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia
    • Kantaputra P.N., et al. Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. J. Dent. Res. 82 6 (2003) 433-437
    • (2003) J. Dent. Res. , vol.82 , Issue.6 , pp. 433-437
    • Kantaputra, P.N.1
  • 84
    • 0141701933 scopus 로고    scopus 로고
    • The Rapp-Hodgkin syndrome results from mutations of the TP63 gene
    • Bougeard G., et al. The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. Eur. J. Hum. Genet. 11 9 (2003) 700-704
    • (2003) Eur. J. Hum. Genet. , vol.11 , Issue.9 , pp. 700-704
    • Bougeard, G.1
  • 85
    • 1542647605 scopus 로고    scopus 로고
    • Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene
    • Dianzani I., et al. Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. J. Med. Genet. 40 12 (2003) p. e133
    • (2003) J. Med. Genet. , vol.40 , Issue.12
    • Dianzani, I.1
  • 86
    • 3242710577 scopus 로고    scopus 로고
    • Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder
    • Bertola D.R., et al. Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. Clin. Genet. 66 1 (2004) 79-80
    • (2004) Clin. Genet. , vol.66 , Issue.1 , pp. 79-80
    • Bertola, D.R.1
  • 87
    • 33745509671 scopus 로고    scopus 로고
    • A mutation of the p63 gene in non-syndromic cleft lip
    • Leoyklang P., Siriwan P., and Shotelersuk V. A mutation of the p63 gene in non-syndromic cleft lip. J. Med. Genet. 43 6 (2006) p. e28
    • (2006) J. Med. Genet. , vol.43 , Issue.6
    • Leoyklang, P.1    Siriwan, P.2    Shotelersuk, V.3
  • 88
    • 33748653166 scopus 로고    scopus 로고
    • Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34
    • Radhakrishna U., et al. Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34. Am. J. Hum. Genet. 79 3 (2006) 580-585
    • (2006) Am. J. Hum. Genet. , vol.79 , Issue.3 , pp. 580-585
    • Radhakrishna, U.1
  • 89
    • 0035161952 scopus 로고    scopus 로고
    • Fetal cleft lip and palate: sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses
    • Berge S.J., et al. Fetal cleft lip and palate: sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses. Ultrasound Obstet. Gynecol. 18 5 (2001) 422-431
    • (2001) Ultrasound Obstet. Gynecol. , vol.18 , Issue.5 , pp. 422-431
    • Berge, S.J.1
  • 90
    • 0037151769 scopus 로고    scopus 로고
    • Molecular features of human ubiquitin-like SUMO genes and their encoded proteins
    • Su H.L., and Li S.S. Molecular features of human ubiquitin-like SUMO genes and their encoded proteins. Genetics 296 1-2 (2002) 65-73
    • (2002) Genetics , vol.296 , Issue.1-2 , pp. 65-73
    • Su, H.L.1    Li, S.S.2
  • 91
    • 0141831006 scopus 로고    scopus 로고
    • Control of spontaneous and damage-induced mutagenesis by SUMO and ubiquitin conjugation
    • Stelter P., and Ulrich H.D. Control of spontaneous and damage-induced mutagenesis by SUMO and ubiquitin conjugation. Nature 425 6954 (2003) 188-191
    • (2003) Nature , vol.425 , Issue.6954 , pp. 188-191
    • Stelter, P.1    Ulrich, H.D.2
  • 92
    • 33749069523 scopus 로고    scopus 로고
    • SUMO1 haploinsufficiency leads to cleft lip and palate
    • Alkuraya F.S., et al. SUMO1 haploinsufficiency leads to cleft lip and palate. Science 313 5794 (2006) p. 1751
    • (2006) Science , vol.313 , Issue.5794
    • Alkuraya, F.S.1
  • 93
  • 94
    • 0029049553 scopus 로고
    • A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
    • Frosst P., et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat. Genet. 10 1 (1995) 111-113
    • (1995) Nat. Genet. , vol.10 , Issue.1 , pp. 111-113
    • Frosst, P.1
  • 95
    • 0002106809 scopus 로고    scopus 로고
    • A common mutation in the MTHFR gene is a risk factor for nonsyndromic cleft lip and palate anomalies
    • Tolarova M., Van Rooij I., and Pastor M. A common mutation in the MTHFR gene is a risk factor for nonsyndromic cleft lip and palate anomalies. Am. J. Hum. Genet. 63 (1998) p. 27
    • (1998) Am. J. Hum. Genet. , vol.63
    • Tolarova, M.1    Van Rooij, I.2    Pastor, M.3
  • 96
    • 0033594491 scopus 로고    scopus 로고
    • p63 is a p53 homologue required for limb and epidermal morphogenesis
    • Mills A.A., et al. p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature 398 6729 (1999) 708-713
    • (1999) Nature , vol.398 , Issue.6729 , pp. 708-713
    • Mills, A.A.1
  • 97
    • 0032751289 scopus 로고    scopus 로고
    • Role of the C677T polymorphism at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: results from a case-control study in Brazil
    • Gaspar D.A., et al. Role of the C677T polymorphism at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: results from a case-control study in Brazil. Am. J. Med. Genet. 87 2 (1999) 197-199
    • (1999) Am. J. Med. Genet. , vol.87 , Issue.2 , pp. 197-199
    • Gaspar, D.A.1
  • 98
    • 0033503862 scopus 로고    scopus 로고
    • Nonsyndromic orofacial clefts: association with maternal hyperhomocysteinemia
    • Wong W.Y., et al. Nonsyndromic orofacial clefts: association with maternal hyperhomocysteinemia. Teratology 60 5 (1999) 253-257
    • (1999) Teratology , vol.60 , Issue.5 , pp. 253-257
    • Wong, W.Y.1
  • 99
    • 0035212763 scopus 로고    scopus 로고
    • Linkage analysis of three candidate regions of chromosome 1 in nonsyndromic familial orofacial cleft
    • Martinelli M., et al. Linkage analysis of three candidate regions of chromosome 1 in nonsyndromic familial orofacial cleft. Ann. Hum. Genet. 65 Pt 5 (2001) 465-471
    • (2001) Ann. Hum. Genet. , vol.65 , Issue.PART 5 , pp. 465-471
    • Martinelli, M.1
  • 100
    • 7244219970 scopus 로고    scopus 로고
    • Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate
    • Pezzetti F., et al. Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate. Hum. Mutat. 24 1 (2004) 104-105
    • (2004) Hum. Mutat. , vol.24 , Issue.1 , pp. 104-105
    • Pezzetti, F.1
  • 101
    • 33746620531 scopus 로고    scopus 로고
    • Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate
    • Martinelli M., et al. Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate. Hum. Mutat. 27 3 (2006) p. 294
    • (2006) Hum. Mutat. , vol.27 , Issue.3
    • Martinelli, M.1
  • 102
    • 4043169859 scopus 로고    scopus 로고
    • Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate
    • Gaspar D.A., et al. Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate. Eur. J. Hum. Genet. 12 7 (2004) 521-526
    • (2004) Eur. J. Hum. Genet. , vol.12 , Issue.7 , pp. 521-526
    • Gaspar, D.A.1
  • 103
    • 33644859355 scopus 로고    scopus 로고
    • Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China
    • Zhu J., et al. Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China. Am. J. Med. Genet. A 140 6 (2006) 551-557
    • (2006) Am. J. Med. Genet. A , vol.140 , Issue.6 , pp. 551-557
    • Zhu, J.1
  • 104
    • 33646765346 scopus 로고    scopus 로고
    • Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population
    • Mostowska A., Hozyasz K.K., and Jagodzinski P.P. Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population. Clin. Genet. 69 6 (2006) 512-517
    • (2006) Clin. Genet. , vol.69 , Issue.6 , pp. 512-517
    • Mostowska, A.1    Hozyasz, K.K.2    Jagodzinski, P.P.3
  • 105
    • 33846807689 scopus 로고    scopus 로고
    • Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts
    • Chevrier C., et al. Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts. Am. J. Med. Genet. A 143 3 (2007) 248-257
    • (2007) Am. J. Med. Genet. A , vol.143 , Issue.3 , pp. 248-257
    • Chevrier, C.1
  • 106
    • 0030671069 scopus 로고    scopus 로고
    • Application of transmission disequilibrium tests to nonsyndromic oral clefts: including candidate genes and environmental exposures in the models
    • Maestri N.E., et al. Application of transmission disequilibrium tests to nonsyndromic oral clefts: including candidate genes and environmental exposures in the models. Am. J. Med. Genet. 73 3 (1997) 337-344
    • (1997) Am. J. Med. Genet. , vol.73 , Issue.3 , pp. 337-344
    • Maestri, N.E.1
  • 107
    • 0036461228 scopus 로고    scopus 로고
    • Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate
    • Scapoli L., et al. Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate. Hum. Genet. 110 1 (2002) 15-20
    • (2002) Hum. Genet. , vol.110 , Issue.1 , pp. 15-20
    • Scapoli, L.1
  • 108
    • 0037395472 scopus 로고    scopus 로고
    • MSX1 and TGFB3 contribute to clefting in South America
    • Vieira A.R., et al. MSX1 and TGFB3 contribute to clefting in South America. J. Dent. Res. 82 4 (2003) 289-292
    • (2003) J. Dent. Res. , vol.82 , Issue.4 , pp. 289-292
    • Vieira, A.R.1
  • 109
    • 0037387441 scopus 로고    scopus 로고
    • Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: a case-parent triad analysis
    • Jugessur A., et al. Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: a case-parent triad analysis. Genet. Epidemiol. 24 3 (2003) 230-239
    • (2003) Genet. Epidemiol. , vol.24 , Issue.3 , pp. 230-239
    • Jugessur, A.1
  • 110
    • 33744802205 scopus 로고    scopus 로고
    • Novel MSX1 frameshift causes autosomal-dominant oligodontia
    • Kim J.W., et al. Novel MSX1 frameshift causes autosomal-dominant oligodontia. J. Dent. Res. 85 3 (2006) 267-271
    • (2006) J. Dent. Res. , vol.85 , Issue.3 , pp. 267-271
    • Kim, J.W.1
  • 111
    • 31544449192 scopus 로고    scopus 로고
    • PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses
    • Ichikawa E., et al. PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses. J. Hum. Genet. 51 1 (2006) 38-46
    • (2006) J. Hum. Genet. , vol.51 , Issue.1 , pp. 38-46
    • Ichikawa, E.1
  • 112
    • 0027358433 scopus 로고
    • Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL±P)
    • Shaw D., et al. Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL±P). Am. J. Hum. Genet. 53 5 (1993) 1156-1157
    • (1993) Am. J. Hum. Genet. , vol.53 , Issue.5 , pp. 1156-1157
    • Shaw, D.1
  • 113
    • 0028242663 scopus 로고
    • Interpreting the evidence for an association between the retinoic acid receptor locus and non-syndromic cleft lip with or without cleft palate
    • Mitchell L.E. Interpreting the evidence for an association between the retinoic acid receptor locus and non-syndromic cleft lip with or without cleft palate. J. Med. Genet. 31 5 (1994) p. 425
    • (1994) J. Med. Genet. , vol.31 , Issue.5
    • Mitchell, L.E.1
  • 114
    • 0035986997 scopus 로고    scopus 로고
    • Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population
    • Kanno K., et al. Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population. J. Hum. Genet. 47 6 (2002) 269-274
    • (2002) J. Hum. Genet. , vol.47 , Issue.6 , pp. 269-274
    • Kanno, K.1
  • 115
    • 0037233871 scopus 로고    scopus 로고
    • Chromosome 17: gene mapping studies of cleft lip with or without cleft palate in Chinese families
    • Peanchitlertkajorn S., et al. Chromosome 17: gene mapping studies of cleft lip with or without cleft palate in Chinese families. Cleft Palate Craniofac. J. 40 1 (2003) 71-79
    • (2003) Cleft Palate Craniofac. J. , vol.40 , Issue.1 , pp. 71-79
    • Peanchitlertkajorn, S.1
  • 116
    • 0038544316 scopus 로고    scopus 로고
    • Retinoic acid receptor alpha gene variants, multivitamin use, and liver intake as risk factors for oral clefts: a population-based case-control study in Denmark, 1991-1994
    • Mitchell L.E., et al. Retinoic acid receptor alpha gene variants, multivitamin use, and liver intake as risk factors for oral clefts: a population-based case-control study in Denmark, 1991-1994. Am. J. Epidemiol. 158 1 (2003) 69-76
    • (2003) Am. J. Epidemiol. , vol.158 , Issue.1 , pp. 69-76
    • Mitchell, L.E.1
  • 117
    • 0019483361 scopus 로고
    • Cleft palate: a genetic and epidemiologic investigation
    • Shields E.D., Bixler D., and Fogh-Andersen P. Cleft palate: a genetic and epidemiologic investigation. Clin. Genet. 20 1 (1981) 13-24
    • (1981) Clin. Genet. , vol.20 , Issue.1 , pp. 13-24
    • Shields, E.D.1    Bixler, D.2    Fogh-Andersen, P.3
  • 118
    • 0019989374 scopus 로고
    • A three generation family study of cleft lip with or without cleft palate
    • Carter C.O., et al. A three generation family study of cleft lip with or without cleft palate. J. Med. Genet. 19 4 (1982) 246-261
    • (1982) J. Med. Genet. , vol.19 , Issue.4 , pp. 246-261
    • Carter, C.O.1
  • 119
    • 0028935219 scopus 로고
    • Association study of transforming growth factor alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects
    • Hwang S.J., et al. Association study of transforming growth factor alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects. Am. J. Epidemiol. 141 7 (1995) 629-636
    • (1995) Am. J. Epidemiol. , vol.141 , Issue.7 , pp. 629-636
    • Hwang, S.J.1
  • 120
    • 0033364965 scopus 로고    scopus 로고
    • A locus for isolated cleft palate, located on human chromosome 2q32
    • Brewer C.M., et al. A locus for isolated cleft palate, located on human chromosome 2q32. Am. J. Hum. Genet. 65 2 (1999) 387-396
    • (1999) Am. J. Hum. Genet. , vol.65 , Issue.2 , pp. 387-396
    • Brewer, C.M.1
  • 121
    • 10744227687 scopus 로고    scopus 로고
    • Identification of SATB2 as the cleft palate gene on 2q32-q33
    • FitzPatrick D.R., et al. Identification of SATB2 as the cleft palate gene on 2q32-q33. Hum. Mol. Genet. 12 19 (2003) 2491-2501
    • (2003) Hum. Mol. Genet. , vol.12 , Issue.19 , pp. 2491-2501
    • FitzPatrick, D.R.1
  • 122
    • 0023275513 scopus 로고
    • Linkage of an X-chromosome cleft palate gene
    • Moore G.E., et al. Linkage of an X-chromosome cleft palate gene. Nature 326 6108 (1987) 91-92
    • (1987) Nature , vol.326 , Issue.6108 , pp. 91-92
    • Moore, G.E.1
  • 123
    • 0026769167 scopus 로고
    • The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1
    • Gorski S.M., et al. The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1. Am. J. Hum. Genet. 50 5 (1992) 1129-1136
    • (1992) Am. J. Hum. Genet. , vol.50 , Issue.5 , pp. 1129-1136
    • Gorski, S.M.1
  • 124
    • 0027328095 scopus 로고
    • The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X
    • Stanier P., et al. The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X. Genomics 17 3 (1993) 549-555
    • (1993) Genomics , vol.17 , Issue.3 , pp. 549-555
    • Stanier, P.1
  • 125
    • 0028168058 scopus 로고
    • Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds
    • Gorski S.M., et al. Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds. Hum. Genet. 94 2 (1994) 141-148
    • (1994) Hum. Genet. , vol.94 , Issue.2 , pp. 141-148
    • Gorski, S.M.1
  • 126
    • 0028957591 scopus 로고
    • Refinement of the X-linked cleft palate and ankyloglossia (CPX) localisation by genetic mapping in an Icelandic kindred
    • Forbes S.A., et al. Refinement of the X-linked cleft palate and ankyloglossia (CPX) localisation by genetic mapping in an Icelandic kindred. Hum. Genet. 95 3 (1995) 342-346
    • (1995) Hum. Genet. , vol.95 , Issue.3 , pp. 342-346
    • Forbes, S.A.1
  • 127
    • 0034785350 scopus 로고    scopus 로고
    • The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia
    • Braybrook C., et al. The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nat. Genet. 29 2 (2001) 179-183
    • (2001) Nat. Genet. , vol.29 , Issue.2 , pp. 179-183
    • Braybrook, C.1
  • 128
    • 0037108753 scopus 로고    scopus 로고
    • Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.
    • Braybrook C., et al. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. Hum. Mol. Genet. 11 22 (2002) 2793-2804
    • (2002) Hum. Mol. Genet. , vol.11 , Issue.22 , pp. 2793-2804
    • Braybrook, C.1
  • 129
    • 9144272544 scopus 로고    scopus 로고
    • TBX22 mutations are a frequent cause of cleft palate
    • Marcano A.C., et al. TBX22 mutations are a frequent cause of cleft palate. J. Med. Genet. 41 1 (2004) 68-74
    • (2004) J. Med. Genet. , vol.41 , Issue.1 , pp. 68-74
    • Marcano, A.C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.