-
1
-
-
84857828804
-
Online Mendelian Inheritance in Man
-
Available from [Last accessed 2011 Jan 3]
-
Online Mendelian Inheritance in Man. National Library of Medicine website: Available from: http://www.ncbi.nlm.nih.gov/omim/. [Last accessed 2011 Jan 3].
-
National Library of Medicine Website
-
-
-
2
-
-
0033965069
-
Associated malformations in cases with oral clefts
-
Stoll C, Alembik Y, Dott B, Roth MP. Associated malformations in cases with oral clefts. Cleft Palate Craniofac J 2000;37:41-7. (Pubitemid 30065017)
-
(2000)
Cleft Palate-Craniofacial Journal
, vol.37
, Issue.1
, pp. 41-47
-
-
Stoll, C.1
Alembik, Y.2
Dott, B.3
Roth, M.P.4
-
3
-
-
0027328095
-
The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X
-
DOI 10.1006/geno.1993.1370
-
Stanier P, Forbes SA, Arnason A, Bjornsson A, Sveinbjornsdottir E, Williamson R, 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 1993;17:549-55. (Pubitemid 23282805)
-
(1993)
Genomics
, vol.17
, Issue.3
, pp. 549-555
-
-
Stanier, P.1
Forbes, S.A.2
Arnason, A.3
Bjornsson, A.4
Sveinbjornsdottir, E.5
Williamson, R.6
Moore, G.7
-
4
-
-
0034785350
-
The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia
-
DOI 10.1038/ng730
-
Braybrook C, Doudney K, Marçano AC, Arnason A, Bjornsson A, Patton MA, et al. The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nat Genet 2001;29:179-83. (Pubitemid 32952655)
-
(2001)
Nature Genetics
, vol.29
, Issue.2
, pp. 179-183
-
-
Braybrook, C.1
Doudney, K.2
Marcano, A.C.B.3
Arnason, A.4
Bjornsson, A.5
Patton, M.A.6
Goodfellow, P.J.7
Moore, G.E.8
Stanier, P.9
-
5
-
-
0034033146
-
Identification of susceptibility loci for nonsyndromic: Cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs
-
DOI 10.1007/s004390051048
-
Prescott NJ, Lees MM, Winter RM, Malcolm S. Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. Hum Genet 2000;106:345-50. (Pubitemid 30201284)
-
(2000)
Human Genetics
, vol.106
, Issue.3
, pp. 345-350
-
-
Prescott, N.J.1
Lees, M.M.2
Winter, R.M.3
Malcolm, S.4
-
6
-
-
0034425423
-
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
-
DOI 10.1038/78119
-
Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA, et al. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet 2000;25:427-30. (Pubitemid 32983436)
-
(2000)
Nature Genetics
, vol.25
, Issue.4
, pp. 427-430
-
-
Suzuki, K.1
Hu, D.2
Bustos, T.3
Zlotogora, J.4
Richieri-Costa, A.5
Helms, J.A.6
Spritz, R.A.7
-
7
-
-
0033519211
-
Nectin/PRR: An immunoglobulin-like cell adhesion molecule recruited to cadherin-based adherens junctions through interaction with afadin, a PDZ domain-containing protein
-
DOI 10.1083/jcb.145.3.539
-
Takahashi K, Nakanishi H, Miyahara M, Mandai K, Satoh K, Satoh A, et al. Nectin/PRR: An immunoglobulin-like cell adhesion molecule recruited to cadherin-based adherens junctions through interaction with Afadin, a PDZ domain-containing protein. J Cell Biol 1999;145:539-49. (Pubitemid 29215718)
-
(1999)
Journal of Cell Biology
, vol.145
, Issue.3
, pp. 539-549
-
-
Takahashi, K.1
Nakanishi, H.2
Miyahara, M.3
Mandai, K.4
Satoh, K.5
Satoh, A.6
Nishioka, H.7
Aoki, J.8
Nomoto, A.9
Mizoguchi, A.10
Takai, Y.11
-
8
-
-
0034789530
-
Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela
-
DOI 10.1038/ng740
-
Sözen MA, Suzuki K, Tolarova MM, Bustos T, Fernández Iglesias JE, Spritz RA. Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. Nat Genet 2001;29:141-2. (Pubitemid 32952649)
-
(2001)
Nature Genetics
, vol.29
, Issue.2
, pp. 141-142
-
-
Sozen, M.A.1
Suzuki, K.2
Tolarova, M.M.3
Bustos, T.4
Fernandez Iglesias, J.E.5
Spritz, R.A.6
-
9
-
-
0022963306
-
Genetic epidemiology and control of genetic expression in van der Woude syndrome
-
Burdick AB. Genetic epidemiology and control of genetic expression in van der Woude syndrome. J Craniofac Genet Dev Biol Suppl 1986;2:99-105. (Pubitemid 17208042)
-
(1986)
Journal of Craniofacial Genetics and Developmental Biology
, vol.6
, Issue.SUPPL. 2
, pp. 99-105
-
-
Burdick, A.B.1
-
10
-
-
0015854584
-
Phenotypic variation in the popliteal pterygium syndrome
-
Bixler D, Poland C, Nance WE. Phenotypic variation in the popliteal pterygium syndrome. Clin Genet 1973;4:220-8.
-
(1973)
Clin Genet
, vol.4
, pp. 220-8
-
-
Bixler, D.1
Poland, C.2
Nance, W.E.3
-
11
-
-
11944262571
-
Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq
-
Murray JC, Nishimura DY, Buetow KH, Ardinger HH, Spence MA, Sparkes RS, et al. Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq. Am J Hum Genet 1990;46:486-91.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 486-91
-
-
Murray, J.C.1
Nishimura, D.Y.2
Buetow, K.H.3
Ardinger, H.H.4
Spence, M.A.5
Sparkes, R.S.6
-
12
-
-
0033408330
-
Popliteal pterygium syndrome: A clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32
-
Lees MM, Winter RM, Malcolm S, Saal HM, Chitty L. Popliteal pterygium syndrome: A clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32. J Med Genet 1999;36:888-92. (Pubitemid 30003844)
-
(1999)
Journal of Medical Genetics
, vol.36
, Issue.12
, pp. 888-892
-
-
Lees, M.M.1
Winter, R.M.2
Malcolm, S.3
Saal, H.M.4
Chitty, L.5
-
13
-
-
18644374446
-
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
-
Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 2002;32:285-9.
-
(2002)
Nat Genet
, vol.32
, pp. 285-9
-
-
Kondo, S.1
Schutte, B.C.2
Richardson, R.J.3
Bjork, B.C.4
Knight, A.S.5
Watanabe, Y.6
-
14
-
-
0035889326
-
Possible relationship between the van der woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P)
-
DOI 10.1002/1096-8628(20011115)104:1<86::AID-AJMG10053>3.0.CO;2-E
-
Houdayer C, Bonaïti-Pellié C, Erguy C, Soupre V, Dondon MG, Bürglen L, 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 2001;104:86-92. (Pubitemid 33020157)
-
(2001)
American Journal of Medical Genetics
, vol.104
, Issue.1
, pp. 86-92
-
-
Houdayer, C.1
Bonaiti-Pellie, C.2
Erguy, C.3
Soupre, V.4
Dondon, M.-G.5
Burglen, L.6
Cougoureux, E.7
Couderc, R.8
Vazquez, M.-P.9
Bahuau, M.10
-
15
-
-
0024432231
-
Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate
-
Ardinger HH, Buetow KH, Bell GI, Bardach J, VanDemark DR, Murray JC. Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am J Hum Genet 1989;45:348-53. (Pubitemid 19231314)
-
(1989)
American Journal of Human Genetics
, vol.45
, Issue.3
, pp. 348-353
-
-
Ardinger, H.H.1
Buetow, K.H.2
Bell, G.I.3
Bardach, J.4
VanDemark, D.R.5
Murray, J.C.6
-
16
-
-
0032759066
-
Transforming growth factor-alpha (TGFA): Genomic structure, boundary sequences, and mutation analysis in nonsyndromic cleft lip/palate and cleft palate only
-
Machida J, Yoshiura K, Funkhauser CD, Natsume N, Kawai T, Murray JC. Transforming growth factor-alpha (TGFA): Genomic structure, boundary sequences, and mutation analysis in nonsyndromic cleft lip/palate and cleft palate only. Genomics 1999;61:237-42.
-
(1999)
Genomics
, vol.61
, pp. 237-42
-
-
MacHida, J.1
Yoshiura, K.2
Funkhauser, C.D.3
Natsume, N.4
Kawai, T.5
Murray, J.C.6
-
17
-
-
0028935219
-
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 SJ, Beaty TH, Panny SR, Street NA, Joseph JM, Gordon S, 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 1995;141:629-36.
-
(1995)
Am J Epidemiol
, vol.141
, pp. 629-36
-
-
Hwang, S.J.1
Beaty, T.H.2
Panny, S.R.3
Street, N.A.4
Joseph, J.M.5
Gordon, S.6
-
18
-
-
0030029864
-
Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants
-
Shaw GM, Wasserman CR, Lammer EJ, O'Malley CD, Murray JC, Basart AM, et al. Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants. Am J Hum Genet 1996;58:551-61. (Pubitemid 26062486)
-
(1996)
American Journal of Human Genetics
, vol.58
, Issue.3
, pp. 551-561
-
-
Shaw, G.M.1
Wasserman, C.R.2
Lammer, E.J.3
O'Malley, C.D.4
Murray, J.C.5
Basart, A.M.6
Tolarova, M.M.7
-
19
-
-
0031815048
-
Infant tgf-alpha genotype, orofacial clefts, and maternal periconceptional multivitamin use
-
DOI 10.1597/1545-1569(1998)035<0366:ITAGOC>2.3.CO;2
-
Shaw GM, Wasserman CR, Murray JC, Lammer EJ. Infant TGF-alpha genotype, orofacial clefts, and maternal periconceptional multivitamin use. Cleft Palate Craniofac J 1998;35:366-70. (Pubitemid 28326187)
-
(1998)
Cleft Palate-Craniofacial Journal
, vol.35
, Issue.4
, pp. 366-370
-
-
Shaw, G.M.1
Wasserman, C.R.2
Murray, J.C.3
Lammer, E.J.4
-
20
-
-
0028292605
-
Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development
-
DOI 10.1038/ng0494-348
-
Satokata I, Maas R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 1994;6:348-56. (Pubitemid 24190017)
-
(1994)
Nature Genetics
, vol.6
, Issue.4
, pp. 348-356
-
-
Satokata, I.1
Maas, R.2
-
21
-
-
0030017452
-
A human MSX1 homeodomain missense mutation causes selective tooth agenesis
-
DOI 10.1038/ng0896-417
-
Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet 1996;13:417-21. (Pubitemid 26256614)
-
(1996)
Nature Genetics
, vol.13
, Issue.4
, pp. 417-421
-
-
Vastardis, H.1
Karimbux, N.2
Guthua, S.W.3
Seidman, J.G.4
Seidman, C.E.5
-
22
-
-
0034028899
-
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
-
DOI 10.1038/74155
-
van den Boogaard MJ, Dorland M, Beemer FA, van Amstel HK. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet 2000;24:342-3. (Pubitemid 30187429)
-
(2000)
Nature Genetics
, vol.24
, Issue.4
, pp. 342-343
-
-
Van Den Boogaard, M.-J.H.1
Dorland, M.2
Beemer, F.A.3
Van Amstel, H.K.P.4
-
23
-
-
0038545785
-
Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate
-
Jezewski PA, Vieira AR, Nishimura C, Ludwig B, Johnson M, O'Brien SE, et al. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet 2003;40:399-407. (Pubitemid 36760656)
-
(2003)
Journal of Medical Genetics
, vol.40
, Issue.6
, pp. 399-407
-
-
Jezewski, P.A.1
Vieira, A.R.2
Nishimura, C.3
Ludwig, B.4
Johnson, M.5
O'Brien, S.E.6
Daack-Hirsch, S.7
Schultz, R.E.8
Weber, A.9
Nepomucena, B.10
Romitti, P.A.11
Christensen, K.12
Orioli, I.M.13
Castilla, E.E.14
Machida, J.15
Natsume, N.16
Murray, J.C.17
-
24
-
-
0037387441
-
Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: A case-parent triad analysis
-
DOI 10.1002/gepi.10223
-
Jugessur A, Lie RT, Wilcox AJ, Murray JC, Taylor JA, Saugstad OD, et al. Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: A case-parent triad analysis. Genet Epidemiol 2003;24:230-9. (Pubitemid 36444188)
-
(2003)
Genetic Epidemiology
, vol.24
, Issue.3
, pp. 230-239
-
-
Jugessur, A.1
Lie, R.T.2
Wilcox, A.J.3
Murray, J.C.4
Taylor, J.A.5
Saugstad, O.D.6
Vindenes, H.A.7
Abyholm, F.8
-
25
-
-
0028844492
-
Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida
-
van der Put NM, Steegers-Theunissen RP, Frosst P, Trijbels FJ, Eskes TK, van den Heuvel LP, et al. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 1995;346:1070-1.
-
(1995)
Lancet
, vol.346
, pp. 1070-1
-
-
Van Der Put, N.M.1
Steegers-Theunissen, R.P.2
Frosst, P.3
Trijbels, F.J.4
Eskes, T.K.5
Van Den Heuvel, L.P.6
-
26
-
-
0036096518
-
Maternal MTHFR genotype contributes to the risk of non-syndromic cleft lip and palate [9]
-
Prescott NJ, Winter RM, Malcolm S. Maternal MTHFR genotype contributes to the risk of non-syndromic cleft lip and palate. J Med Genet 2002;39:368-9. (Pubitemid 34526360)
-
(2002)
Journal of Medical Genetics
, vol.39
, Issue.5
, pp. 368-369
-
-
Prescott, N.J.1
Winter, R.M.2
Malcolm, S.3
-
27
-
-
0242600545
-
Does the interaction between maternal folate intake and the methylenetetrahydrofolate reductase polymorphisms affect the risk of cleft lip with or without cleft palate?
-
DOI 10.1093/aje/kwg005
-
van Rooij IA, Vermeij-Keers C, Kluijtmans LA, Ocké MC, Zielhuis GA, Goorhuis-Brouwer SM, et al. Does the interaction between maternal folate intake and the methylenetetrahydrofolate reductase polymorphisms affect the risk of cleft lip with or without cleft palate? Am J Epidemiol 2003;157:583-91. (Pubitemid 36368528)
-
(2003)
American Journal of Epidemiology
, vol.157
, Issue.7
, pp. 583-591
-
-
Van Rooij, I.A.L.M.1
Vermeij-Keers, C.2
Kluijtmans, L.A.J.3
Ocke, M.C.4
Zielhuis, G.A.5
Goorhuis-Brouwer, S.M.6
Van Der Biezen, J.-J.7
Kuijpers-Jagtman, A.-M.8
Steegers-Theunissen, R.P.M.9
-
28
-
-
0028972869
-
Transforming growth factor-beta3 is required for secondary palate fusion
-
DOI 10.1038/ng1295-409
-
Proetzel G, Pawlowski SA, Wiles MV, Yin M, Boivin GP, Howles PN, et al. Transforming growth factor-beta 3 is required for secondary palate fusion. Nat Genet 1995;11:409-14. (Pubitemid 3007193)
-
(1995)
Nature Genetics
, vol.11
, Issue.4
, pp. 409-414
-
-
Proetzel, G.1
Pawlowski, S.A.2
Wiles, M.V.3
Yin Moying4
Boivin, G.P.5
Howles, P.N.6
Ding Jixang7
Ferguson, M.W.8
Doetschman, T.9
-
29
-
-
0037395472
-
MSX1 and TGFB3 contribute to clefting in South America
-
Vieira AR, Orioli IM, Castilla EE, Cooper ME, Marazita ML, Murray JC. MSX1 and TGFB3 contribute to clefting in South America. J Dent Res 2003;82:289-92. (Pubitemid 41766026)
-
(2003)
Journal of Dental Research
, vol.82
, Issue.4
, pp. 289-292
-
-
Vieira, A.R.1
Orioli, I.M.2
Castilla, E.E.3
Cooper, M.E.4
Marazita, M.L.5
Murray, J.C.6
-
30
-
-
0942268094
-
Transforming growth factor-beta3 gene SfaN1 polymorphism in Korean nonsyndromic cleft lip and palate patients
-
Kim MH, Kim HJ, Choi JY, Nahm DS. Transforming growth factor-beta3 gene SfaN1 polymorphism in Korean nonsyndromic cleft lip and palate patients. J Biochem Mol Biol 2003;36:533-7.
-
(2003)
J Biochem Mol Biol
, vol.36
, pp. 533-7
-
-
Kim, M.H.1
Kim, H.J.2
Choi, J.Y.3
Nahm, D.S.4
-
31
-
-
10744227687
-
Identification of SATB2 as the cleft palate gene on 2q32-q33
-
DOI 10.1093/hmg/ddg248
-
FitzPatrick DR, Carr IM, McLaren L, Leek JP, Wightman P, Williamson K, et al. Identification of SATB2 as the cleft palate gene on 2q32-q33. Hum Mol Genet 2003;12: 2491-501. (Pubitemid 37220413)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.19
, pp. 2491-2501
-
-
FitzPatrick, D.R.1
Carr, I.M.2
McLaren, L.3
Leek, J.P.4
Wightman, P.5
Williamson, K.6
Gautier, P.7
McGill, N.8
Hayward, C.9
Firth, H.10
Markham, A.F.11
Fantes, J.A.12
Bonthron, D.T.13
-
32
-
-
0028130047
-
Possible localization of a major gene for cleft lip and palate to 4q
-
Beiraghi S, Foroud T, Diouhy S, Bixler D, Conneally PM, Delozier-Blanchet D, et al. Possible localization of a major gene for cleft lip and palate to 4q. Clin Genet 1994;46:255-6. (Pubitemid 24299178)
-
(1994)
Clinical Genetics
, vol.46
, Issue.3
, pp. 255-256
-
-
Beiraghi, S.1
Foroud, T.2
Diouhy, S.3
Bixler, D.4
Conneally, P.M.5
Delozier-Blanchet, D.6
Hodes, M.E.7
-
33
-
-
0037464551
-
Identification and characterization of a novel gene disrupted by a pericentric inversion inv(4)(p13.1q21.1) in a family with cleft lip
-
DOI 10.1016/S0378-1119(03)00461-X
-
Beiraghi S, Zhou M, Talmadge CB, Went-Sumegi N, Davis JR, Huang D, 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. Gene 2003;309:11-21. (Pubitemid 36513857)
-
(2003)
Gene
, vol.309
, Issue.1
, pp. 11-21
-
-
Beiraghi, S.1
Zhou, M.2
Talmadge, C.B.3
Went-Sumegi, N.4
Davis, J.R.5
Huang, D.6
Saal, H.7
Seemayer, T.A.8
Sumegi, J.9
-
34
-
-
0032400979
-
Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate
-
DOI 10.1006/geno.1998.5577
-
Yoshiura K, Machida J, Daack-Hirsch S, Patil SR, Ashworth LK, Hecht JT, et al. Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate. Genomics 1998;54:231-40. (Pubitemid 28553632)
-
(1998)
Genomics
, vol.54
, Issue.2
, pp. 231-240
-
-
Yoshiura, K.-I.1
Machida, J.2
Daack-Hirsch, S.3
Patil, S.R.4
Ashworth, L.K.5
Hecht, J.T.6
Murray, J.C.7
-
35
-
-
0029079365
-
Nonsyndromic cleft lip with or without cleft palate: Evidence of linkage to BCL3 in 17 multigenerational families
-
Stein J, Mulliken JB, Stal S, Gasser DL, Malcolm S, Winter R, et al. Nonsyndromic cleft lip with or without cleft palate: Evidence of linkage to BCL3 in 17 multigenerational families. Am J Hum Genet 1995;57:257-72.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 257-72
-
-
Stein, J.1
Mulliken, J.B.2
Stal, S.3
Gasser, D.L.4
Malcolm, S.5
Winter, R.6
-
36
-
-
0031060648
-
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
-
DOI 10.1007/s004390050303
-
Wyszynski DF, Maestri N, McIntosh I, Smith EA, Lewanda AF, Garcia-Delgado C, et al. Evidence for an association between markers on chromosome 19q and nonsyndromic cleft lip with or without cleft palate in two groups of multiplex families. Hum Genet 1997;99:22-6. (Pubitemid 26419848)
-
(1997)
Human Genetics
, vol.99
, Issue.1
, pp. 22-26
-
-
Wyszynski, D.F.1
Maestri, N.2
McIntosh, I.3
Smith, E.A.4
Lewanda, A.F.5
Garcia-Delgado, C.6
Vinageras-Guarneros, E.7
Wulfsberg, E.8
Beaty, T.H.9
-
37
-
-
0023176710
-
Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6
-
Eiberg H, Bixler D, Nielsen LS, Conneally PM, Mohr J. Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin Genet 1987;32:129-32. (Pubitemid 17122982)
-
(1987)
Clinical Genetics
, vol.32
, Issue.2
, pp. 129-132
-
-
Eiberg, H.1
Bixler, D.2
Nielsen, L.S.3
-
38
-
-
0028816146
-
Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region
-
Davies AF, Stephens RJ, Olavesen MG, Heather L, Dixon MJ, Magee A, et al. Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region. Hum Mol Genet 1995;4:121-8.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 121-8
-
-
Davies, A.F.1
Stephens, R.J.2
Olavesen, M.G.3
Heather, L.4
Dixon, M.J.5
Magee, A.6
-
39
-
-
77953999129
-
MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate
-
Jagomägi T, Nikopensius T, Krjutskov K, Tammekivi V, Viltrop T, Saag M, et al. MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. Eur J Oral Sci 2010;118:213-20.
-
(2010)
Eur J Oral Sci
, vol.118
, pp. 213-20
-
-
Jagomägi, T.1
Nikopensius, T.2
Krjutskov, K.3
Tammekivi, V.4
Viltrop, T.5
Saag, M.6
-
40
-
-
28044448897
-
Progress toward discerning the genetics of cleft lip
-
DOI 10.1097/01.mop.0000185138.65820.7f
-
Lidral AC, Moreno LM. Progress toward discerning the genetics of cleft lip. Curr Opin Pediatr 2005;17:731-9. (Pubitemid 41689666)
-
(2005)
Current Opinion in Pediatrics
, vol.17
, Issue.6
, pp. 731-739
-
-
Lidral, A.C.1
Moreno, L.M.2
-
41
-
-
34547516140
-
Medical sequencing of candidate genes for non-syndromic cleft lip and palate
-
Vieira AR, Avila JR, Daack-Hirsch S, Dragan E, Félix TM, Rahimov F, et al. Medical sequencing of candidate genes for non-syndromic cleft lip and palate. PLoS Genet 2005;1:e64.
-
(2005)
PLoS Genet
, vol.1
-
-
Vieira, A.R.1
Avila, J.R.2
Daack-Hirsch, S.3
Dragan, E.4
Félix, T.M.5
Rahimov, F.6
-
42
-
-
0030671069
-
Application of transmission disequilibrium tests to nonsyndromic oral clefts: Including candidate genes and environmental exposures in the models
-
DOI 10.1002/(SICI)1096-8628(19971219)73:3<337::AID-AJMG21>3.0.CO;2- J
-
Maestri NE, Beaty TH, Hetmanski J, Smith EA, McIntosh I, Wyszynski DF, et al. Application of transmission disequilibrium tests to non-syndromic oral clefts: Including candidate genes and environmental exposures in the models. Am J Med Genet 1997;73:337-44. (Pubitemid 27509914)
-
(1997)
American Journal of Medical Genetics
, vol.73
, Issue.3
, pp. 337-344
-
-
Maestri, N.E.1
Beaty, T.H.2
Hetmanski, J.3
Smith, E.A.4
McIntosh, I.5
Wyszynski, D.F.6
Liang, K.-Y.7
Duffy, D.L.8
Vanderkolk, C.9
-
43
-
-
3242672318
-
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35
-
DOI 10.1086/422475
-
Marazita ML, Murray JC, Lidral AC, Arcos-Burgos M, Cooper ME, Goldstein T, et al. Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet 2004;75:161-73. (Pubitemid 38943861)
-
(2004)
American Journal of Human Genetics
, vol.75
, Issue.2
, pp. 161-173
-
-
Marazita, M.L.1
Murray, J.C.2
Lidral, A.C.3
Arcos-Burgos, M.4
Cooper, M.E.5
Goldstein, T.6
Maher, B.S.7
Daack-Hirsch, S.8
Schultz, R.9
Mansilla, M.A.10
Field, L.L.11
Liu, Y.-E.12
Prescott, N.13
Malcolm, S.14
Winter, R.15
Ray, A.16
Moreno, L.17
Valencia, C.18
Neiswanger, K.19
Wyszynski, D.F.20
Bailey-Wilson, J.E.21
Albacha-Hejazi, H.22
Beaty, T.H.23
McIntosh, I.24
Hetmanski, J.B.25
Tuncbilek, G.26
Edwards, M.27
Harkin, L.28
Scott, R.29
Roddick, L.G.30
more..
-
44
-
-
18744384340
-
Evidence that BCL3 plays a role in the etiology of nonsyndromic oral clefts in Brazilian families
-
DOI 10.1002/gepi.10189
-
Gaspar DA, Matioli SR, Pavanello RC, Araújo BC, André M, Steman S, et al. Evidence that BCL3 plays a role in the etiology of nonsyndromic oral clefts in Brazilian families. Genet Epidemiol 2002;23:364-74. (Pubitemid 35416674)
-
(2002)
Genetic Epidemiology
, vol.23
, Issue.4
, pp. 364-374
-
-
Gaspar, D.A.1
Matioli, S.R.2
Pavanello, R.C.3
Araujo, B.C.4
Andre, M.5
Steman, S.6
Otto, P.A.7
Passos-Bueno, M.R.8
-
45
-
-
1542409255
-
Association between 10 Microsatellite Markers and Nonsyndromic Cleft Lip Palate in the Chilean Population
-
DOI 10.1597/02-147
-
Blanco R, Suazo J, Santos JL, Paredes M, Sung H, Carreńo H, et al. Association between 10 microsatellite markers and nonsyndromic cleft lip palate in the Chilean population. Cleft Palate Craniofac J 2004;41:163-7. (Pubitemid 38332683)
-
(2004)
Cleft Palate-Craniofacial Journal
, vol.41
, Issue.2
, pp. 163-167
-
-
Blanco, R.1
Suazo, J.2
Santos, J.L.3
Paredes, M.4
Sung, H.5
Carreno, H.6
Jara, L.7
-
46
-
-
63449091636
-
Differential parental transmission of markers in BCL3 among Korean cleft case-parent trios
-
Park BY, Sull JW, Park JY, Jee SH, Beaty TH. Differential parental transmission of markers in BCL3 among Korean cleft case-parent trios. J Prev Med Public Health 2009;42:1-4.
-
(2009)
J Prev Med Public Health
, vol.42
, pp. 1-4
-
-
Park, B.Y.1
Sull, J.W.2
Park, J.Y.3
Jee, S.H.4
Beaty, T.H.5
-
47
-
-
1442332964
-
Genetic Analysis of Candidate Loci in Non-Syndromic Cleft Lip Families from Antioquia-Colombia and Ohio
-
Moreno LM, Arcos-Burgos M, Marazita ML, Krahn K, Maher BS, Cooper ME, et al. Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio. Am J Med Genet Part A 2004;125A:135-44. (Pubitemid 38268844)
-
(2004)
American Journal of Medical Genetics
, vol.125 A
, Issue.2
, pp. 135-144
-
-
Moreno, L.M.1
Arcos-Burgos, M.2
Marazita, M.L.3
Krahn, K.4
Maher, B.S.5
Cooper, M.E.6
Valencia-Ramirez, C.R.7
Lidral, A.C.8
-
48
-
-
0036005907
-
Use of U.S. birth certificate data to estimate the risk of maternal cigarette smoking for oral clefting
-
DOI 10.1597/1545-1569(2002)039<0188:UOUSBC>2.0.CO;2
-
Wyszynski DF, Wu T. Use of US birth certificate data to estimate the risk of maternal cigarette smoking for oral clefting. Cleft Palate Craniofac J 2002;39:188-92. (Pubitemid 34229540)
-
(2002)
Cleft Palate-Craniofacial Journal
, vol.39
, Issue.2
, pp. 188-192
-
-
Wyszynski, D.F.1
Wu, T.2
-
49
-
-
0034891127
-
Smoking, genetic polymorphisms in biotransformation enzymes, and nonsyndromic oral clefting: A gene-environment interaction
-
DOI 10.1097/00001648-200109000-00007
-
van Rooij IA, Wegerif MJ, Roelofs HM, Peters WH, Kuijpers-Jagtman AM, Zielhuis GA, et al. Smoking, genetic polymorphisms in biotransformation enzymes, and nonsyndromic oral clefting: A gene-environment interaction. Epidemiology 2001;12:502-7. (Pubitemid 32761988)
-
(2001)
Epidemiology
, vol.12
, Issue.5
, pp. 502-507
-
-
Van Rooij, I.A.L.M.1
Wegerif, M.J.M.2
Roelofs, H.M.J.3
Peters, W.H.M.4
Kuijpers-Jagtman, A.-M.5
Zielhuis, G.A.6
Merkus, H.M.W.M.7
Steegers-Theunissen, R.P.M.8
-
50
-
-
0036136187
-
Testing candidate genes for non-syndromic oral clefts using a case-parent trio design
-
DOI 10.1002/gepi.1039
-
Beaty TH, Hetmanski JB, Zeiger JS, Fan YT, Liang KY, VanderKolk CA, et al. testing candidate genes for non-syndromic oral clefts using a case-parent trio design. Genet Epidemiol 2002;22:1-11. (Pubitemid 34019888)
-
(2002)
Genetic Epidemiology
, vol.22
, Issue.1
, pp. 1-11
-
-
Beaty, T.H.1
Hetmanski, J.B.2
Zeiger, J.S.3
Fan, Y.T.4
Liang, K.Y.5
VanderKolk, C.A.6
McIntosh, I.7
-
51
-
-
0029854517
-
Maternal alcohol use and risk of orofacial cleft birth defects
-
DOI 10.1002/(SICI)1096-9926(199607)54:1<27::AID-TERA4>3.0.CO;2-0
-
Munger RG, Romitti PA, Daack-Hirsch S, Burns TL, Murray JC, Hanson J. Maternal alcohol use and risk of orofacial cleft birth defects. Teratology 1996;54:27-33. (Pubitemid 26395136)
-
(1996)
Teratology
, vol.54
, Issue.1
, pp. 27-33
-
-
Munger, R.G.1
Romitti, P.A.2
Daack-Hirsch, S.3
Burns, T.L.4
Murray, J.C.5
Hanson, J.6
-
52
-
-
0033506695
-
Maternal periconceptional alcohol consumption and risk for orofacial clefts
-
Shaw GM, Lammer EJ. Maternal periconceptional alcohol consumption and risk for orofacial clefts. J Pediatr 1999;134:298-303. (Pubitemid 30417637)
-
(1999)
Journal of Pediatrics
, vol.134
, Issue.3
, pp. 298-303
-
-
Shaw, G.M.1
Lammer, E.J.2
-
53
-
-
0034071589
-
Maternal risk factors in cleft lip and palate: Case control study
-
DOI 10.1054/bjom.1999.0133
-
Natsume N, Kawai T, Ogi N, Yoshida W. Maternal risk factors in cleft lip and palate: Case control study. Br J Oral Maxillofac Surg 2000;38:23-5. (Pubitemid 30182110)
-
(2000)
British Journal of Oral and Maxillofacial Surgery
, vol.38
, Issue.1
, pp. 23-25
-
-
Natsume, N.1
Kawai, T.2
Ogi, N.3
Yoshida, W.4
-
54
-
-
0036831842
-
Maternal periconceptional vitamins: Interactions with selected factors and congenital anomalies?
-
DOI 10.1097/00001648-200211000-00005
-
Shaw GM, Nelson V, Carmichael SL, Lammer EJ, Finnell RH, Rosenquist TH. Maternal periconceptional vitamins: Interactions with selected factors and congenital anomalies? Epidemiology 2002;13:625-30. (Pubitemid 44698465)
-
(2002)
Epidemiology
, vol.13
, Issue.6
, pp. 625-630
-
-
Shaw, G.M.1
Nelson, V.2
Carmichael, S.L.3
Lammer, E.J.4
Finnell, R.H.5
Rosenquist, T.H.6
-
55
-
-
0344826557
-
Cleft Palate, Transforming Growth Factor Alpha Gene Variants, and Maternal Exposures: Assessing Gene-Environment Interactions in Case-Parent Triads
-
DOI 10.1002/gepi.10268
-
Jugessur A, Lie RT, Wilcox AJ, Murray JC, Taylor JA, Saugstad OD, et al. Cleft palate, transforming growth factor alpha gene variants, and maternal exposures: Assessing gene-environment interactions in case-parent triads. Genet Epidemiol 2003;25:367-74. (Pubitemid 37486885)
-
(2003)
Genetic Epidemiology
, vol.25
, Issue.4
, pp. 367-374
-
-
Jugessur, A.1
Lie, R.T.2
Wilcox, A.J.3
Murray, J.C.4
Taylor, J.A.5
Saugstad, O.D.6
Vindenes, H.A.7
Abyholm, F.E.8
-
56
-
-
0033503862
-
Nonsyndromic orofacial clefts: Association with maternal hyperhomocysteinemia
-
DOI 10.1002/(SICI)1096-9926(199911)60:5<253::AID-TERA4>3.0.CO;2-V
-
Wong WY, Eskes TK, Kuijpers-Jagtman AM, Spauwen PH, Steegers EA, Thomas CM, et al. Nonsyndromic orofacial clefts: Association with maternal hyperhomocysteinemia. Teratology 1999;60:253-7. (Pubitemid 30265242)
-
(1999)
Teratology
, vol.60
, Issue.5
, pp. 253-257
-
-
Wong, W.1
Eskes, T.K.A.B.2
Kuijpers-Jagtman, A.-M.3
Spauwen, P.H.M.4
Steegers, E.A.P.5
Thomas, C.M.G.6
Hamel, B.C.J.7
Blom, H.J.8
Steegers-Theunissen, R.P.M.9
-
57
-
-
0345095452
-
Association between folic acid food fortification and congenital orofacial clefts
-
DOI 10.1067/S0022-3476(03)00495-5
-
Ray JG, Meier C, Vermeulen MJ, Wyatt PR, Cole DE. Association between folic acid food fortification and congenital orofacial clefts. J Pediatr 2003;143:805-7. (Pubitemid 37510654)
-
(2003)
Journal of Pediatrics
, vol.143
, Issue.6
, pp. 805-807
-
-
Ray, J.G.1
Meier, C.2
Vermeulen, M.J.3
Wyatt, P.R.4
Cole, D.E.C.5
-
58
-
-
0029022223
-
Reduced recurrence of orofacial clefts after periconceptional supplementation with high-dose folic acid and multivitamins
-
Tolarova M, Harris J. Reduced recurrence of orofacial clefts after periconceptional supplementation with high-dose folic acid and multivitamins. Teratology 1995;51:71-8.
-
(1995)
Teratology
, vol.51
, pp. 71-8
-
-
Tolarova, M.1
Harris, J.2
-
59
-
-
0001307901
-
Production of congenital defects in offspring of female mice treated with cortisone
-
Baxter H, Fraser FC. Production of congenital defects in offspring of female mice treated with cortisone. McGill Med J 1950;19:245-9.
-
(1950)
McGill Med J
, vol.19
, pp. 245-9
-
-
Baxter, H.1
Fraser, F.C.2
-
60
-
-
0019835822
-
Cortisone-induced cleft palate in A/J mice: Failure of palatal shelf contact
-
Diewert VM, Pratt RM. Cortisone-induced cleft palate in A/J mice: Failure of palatal shelf contact. Teratology 1981;24:149-62. (Pubitemid 12180524)
-
(1981)
Teratology
, vol.24
, Issue.2
, pp. 149-162
-
-
Diewert, V.M.1
Pratt, R.M.2
-
61
-
-
0019814435
-
Corticosteroid-induced cleft lip in mice: A teratologic, topographic, and histologic investigation
-
Melnick M, Jaskoll T, Slavkin HC. Corticosteroid-induced cleft lip in mice: A teratologic, topographic, and histologic investigation. Am J Med Genet 1981;10:333-50. (Pubitemid 12251066)
-
(1981)
American Journal of Medical Genetics
, vol.10
, Issue.4
, pp. 333-350
-
-
Melnick, M.1
Jaskoll, T.2
Slavkin, H.C.3
-
62
-
-
0019857924
-
Genes in mice that affect susceptibility to cortisone-induced cleft palate are closely linked to Ir genes on chromosomes 2 and 17
-
DOI 10.1073/pnas.78.5.3147
-
Gasser DL, Mele L, Lees DD, Goldman AS. Genes in mice that affect susceptibility to cortisone-induced cleft palate are closely linked to Ir genes on chromosomes 2 and 17. Proc Natl Acad Sci USA 1981;78:3147-50. (Pubitemid 11032006)
-
(1981)
Proceedings of the National Academy of Sciences of the United States of America
, vol.78
, Issue.5
, pp. 3147-3150
-
-
Gasser, D.L.1
Mele, L.2
Lees, D.D.3
Goldman, A.S.4
-
63
-
-
0026320812
-
Restriction fragment length polymorphisms, glucocorticoid receptors, and phenytoin-induced cleft palate in congenic strains of mice with steroid susceptibility differences
-
Gasser DL, Goldner-Sauvé A, Katsumata M, Goldman AS. Restriction fragment length polymorphisms, glucocorticoid receptors, and phenytoin-induced cleft palate in congenic strains of mice with steroid susceptibility differences. J Craniofac Genet Dev Biol 1991;11:366-71.
-
(1991)
J Craniofac Genet Dev Biol
, vol.11
, pp. 366-71
-
-
Gasser, D.L.1
Goldner-Sauvé, A.2
Katsumata, M.3
Goldman, A.S.4
-
64
-
-
0029240543
-
The major locus for multifactorial non-syndromic cleft lip maps to mouse chromosome 11
-
Juriloff DM, Mah DG. The major locus for multifactorial non-syndromic cleft lip maps to mouse chromosome 11. Mamm Genome 1995;6:63-9.
-
(1995)
Mamm Genome
, vol.6
, pp. 63-9
-
-
Juriloff, D.M.1
Mah, D.G.2
-
65
-
-
0032846821
-
Maternal corticosteroid use and risk of selected congenital anomalies
-
DOI 10.1002/(SICI)1096-8628(19990917)86:3<242::AID-AJMG9>3.0.CO;2-U
-
Carmichael SL, Shaw GM. Maternal corticosteroid use and risk of selected congenital anomalies. Am J Med Genet 1999;86:242-4. (Pubitemid 29465870)
-
(1999)
American Journal of Medical Genetics
, vol.86
, Issue.3
, pp. 242-244
-
-
Carmichael, S.L.1
Shaw, G.M.2
-
66
-
-
0031689424
-
Corticosteroids during pregnancy and oral clefts: A case-control study
-
DOI 10.1002/(SICI)1096-9926(199807)58:1<2::AID-TERA2>3.0.CO;2-4
-
Rodriquez-Pinilla E, Martínez-Frías ML. Corticosteroids during pregnancy and oral clefts: A case-control study. Teratology 1998;58:2-5. (Pubitemid 28404243)
-
(1998)
Teratology
, vol.58
, Issue.1
, pp. 2-5
-
-
Rodriguez-Pinilla, E.1
Martinez-Frias, M.L.2
-
67
-
-
0033662284
-
Birth defects after maternal exposure to corticosteroids: Prospective cohort study and meta-analysis of epidemiological studies
-
Park-Wyllie L, Mazzotta P, Pastuszak A, Moretti ME, Beique L, Hunnisett L, et al. Birth defects after maternal exposure to corticosteroids: Prospective cohort study and meta-analysis of epidemiological studies. Teratology 2000;62:385-92.
-
(2000)
Teratology
, vol.62
, pp. 385-92
-
-
Park-Wyllie, L.1
Mazzotta, P.2
Pastuszak, A.3
Moretti, M.E.4
Beique, L.5
Hunnisett, L.6
-
68
-
-
0346992339
-
First Trimester Exposure to Corticosteroids and Oral Clefts
-
DOI 10.1002/bdra.10134
-
Pradat P, Robert-Gnansia E, Di Tanna GL, Rosano A, Lisi A, Mastroiacovo P. First trimester exposure to corticosteroids and oral clefts. Birth Defects Res A Clin Mol Teratol 2003;67:968-70. (Pubitemid 38018036)
-
(2003)
Birth Defects Research Part A - Clinical and Molecular Teratology
, vol.67
, Issue.12
, pp. 968-970
-
-
Pradat, P.1
Robert-Gnansia, E.2
Di Tanna, G.L.3
Rosano, A.4
Lisi, A.5
Mastroiacovo, P.6
Castilla, E.7
Cocchi, G.8
De Vigan, C.9
De Walle, H.10
Lancaster, P.11
Merlob, P.12
Robert, E.13
Sumiyoshi, Y.14
-
69
-
-
36448987949
-
Maternal corticosteroid use and orofacial clefts
-
discussion 683-4
-
Carmichael SL, Shaw GM, Ma C, Werler MM, Rasmussen SA, Lammer EJ. Maternal corticosteroid use and orofacial clefts. Am J Obstet Gynecol 2007;197:585.e1-7; discussion 683-4.
-
(2007)
Am J Obstet Gynecol
, vol.197
-
-
Carmichael, S.L.1
Shaw, G.M.2
Ma, C.3
Werler, M.M.4
Rasmussen, S.A.5
Lammer, E.J.6
-
71
-
-
0016850809
-
Association between maternal intake of diazepam and oral clefts
-
Saxen I, Saxen L. Association between maternal intake of diazepam and oral clefts. Lancet 1975;2:498.
-
(1975)
Lancet
, vol.2
, pp. 498
-
-
Saxen, I.1
Saxen, L.2
-
72
-
-
0016818823
-
Association between cleft lip with or without cleft palate and prenatal exposure to diazepam
-
Safra MJ, Oakley GP Jr. Association between cleft lip with or without cleft palate and prenatal exposure to diazepam. Lancet 1975;2:478-80.
-
(1975)
Lancet
, vol.2
, pp. 478-80
-
-
Safra, M.J.1
Oakley Jr., G.P.2
-
73
-
-
0023457417
-
Lack of evidence of teratogenicity of benzodiazepine drugs in Hungary
-
Czeizel A. Lack of evidence of teratogenicity of benzodiazepine drugs in Hungary. Reprod Toxicol 1988;1:183-8.
-
(1988)
Reprod Toxicol
, vol.1
, pp. 183-8
-
-
Czeizel, A.1
-
74
-
-
0026843469
-
Is there a genetic relationship between epilepsy and birth defects?
-
Durner M, Greenberg DA, Delgado-Escueta AV. Is there a genetic relationship between epilepsy and birth defects? Neurology 1992;42(4 Suppl 5):63-7.
-
(1992)
Neurology
, vol.42
, Issue.4 SUPPL. 5
, pp. 63-7
-
-
Durner, M.1
Greenberg, D.A.2
Delgado-Escueta, A.V.3
-
75
-
-
0031776999
-
Prenatal Diagnosis of Apert's Syndrome
-
Chang CC, Tsai F, Yang CC. Prenatal Diagnosis of Apert's Syndrome. Prenat Diag 1998;18:621-5
-
(1998)
Prenat Diag
, vol.18
, pp. 621-5
-
-
Chang, C.C.1
Tsai, F.2
Yang, C.C.3
-
76
-
-
0028798546
-
Aperts syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
-
Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, et al. Aperts syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995;9:165-72.
-
(1995)
Nat Genet
, vol.9
, pp. 165-72
-
-
Wilkie, A.O.1
Slaney, S.F.2
Oldridge, M.3
Poole, M.D.4
Ashworth, G.J.5
Hockley, A.D.6
-
77
-
-
0029883637
-
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome
-
Slaney SF, Oldridge M, Hurst JA, Moriss-Kay GM, Hall CM, Poole MD, et al. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet 1996;58:923-32. (Pubitemid 26115163)
-
(1996)
American Journal of Human Genetics
, vol.58
, Issue.5
, pp. 923-932
-
-
Slaney, S.F.1
Oldridge, M.2
Hurst, J.A.3
Morriss-Kay, G.M.4
Hall, C.M.5
Poole, M.D.6
Wilkie, A.O.M.7
-
78
-
-
16944367030
-
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
-
Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, et al. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 1997;60:555-64. (Pubitemid 27097603)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.3
, pp. 555-564
-
-
Muenke, M.1
Gripp, K.W.2
McDonald-McGinn, D.M.3
Gaudenz, K.4
Whitaker, L.A.5
Bartlett, S.P.6
Markowitz, R.I.7
Robin, N.H.8
Nwokoro, N.9
Mulvihill, J.J.10
Losken, H.W.11
Mulliken, J.B.12
Guttmacher, A.E.13
Wilroy, R.S.14
Clarke, L.A.15
Hollway, G.16
Ades, L.C.17
Haan, E.A.18
Mulley, J.C.19
Cohen Jr., M.M.20
Bellus, G.A.21
Francomano, C.A.22
Moloney, D.M.23
Wall, S.A.24
Wilkie, A.O.M.25
Zackai, E.H.26
more..
-
79
-
-
16944366124
-
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis
-
Reardon W, Wilkes D, Rutland P, Pulleyn LJ, Malcolm S, Dean JC, et al. Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. J Med Genet 1997;34:632-6. (Pubitemid 27356879)
-
(1997)
Journal of Medical Genetics
, vol.34
, Issue.8
, pp. 632-636
-
-
Reardon, W.1
Wilkes, D.2
Rutland, P.3
Pulleyn, L.J.4
Malcolm, S.5
Dean, J.C.S.6
Evans, R.D.7
Jones, B.M.8
Hayward, R.9
Hall, C.M.10
Nevin, N.C.11
Baraitser, M.12
Winter, R.M.13
-
80
-
-
0023852420
-
Germinal mosaicism in Crouzon syndrome
-
Rollnick BR. Germinal mosaicism in Crouzon syndrome. Clin Genet 1988;33:145-50. (Pubitemid 18068411)
-
(1988)
Clinical Genetics
, vol.33
, Issue.3
, pp. 145-150
-
-
Rollnick, B.R.1
-
81
-
-
0025332142
-
Germinal mosaicism in Crouzon syndrome
-
Kreiborg S, Cohen MM Jr. Germinal mosaicism in Crouzon syndrome. Hum Genet 1990;84:487-8. (Pubitemid 20129501)
-
(1990)
Human Genetics
, vol.84
, Issue.5
, pp. 487-488
-
-
Kreiborg, S.1
Cohen Jr., M.M.2
-
82
-
-
0035746388
-
Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: Review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene
-
Keegan CE, Mulliken JB, Wu BL, Korf BR. Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: Review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. Genet Med 2001;3:310-3.
-
(2001)
Genet Med
, vol.3
, pp. 310-3
-
-
Keegan, C.E.1
Mulliken, J.B.2
Wu, B.L.3
Korf, B.R.4
-
83
-
-
18244364173
-
Hemifacial microsomia: Progress in understanding the genetic basis of a complex malformation syndrome
-
DOI 10.1007/s00439-001-0626-x
-
Kelberman D, Tyson J, Chandler DC, McInerney AM, Slee J, Albert D, et al. Hemifacial microsomia: Progress in understanding the genetic basis of a complex malformation syndrome. Hum Genet 2001;109:638-45. (Pubitemid 34051418)
-
(2001)
Human Genetics
, vol.109
, Issue.6
, pp. 638-645
-
-
Kelberman, D.1
Tyson, J.2
Chandler, D.3
McInerney, A.4
Slee, J.5
Albert, D.6
Aymat, A.7
Botma, M.8
Calvert, M.9
Goldblatt, J.10
Haan, E.11
Laing, N.12
Lim, J.13
Malcolm, S.14
Singer, S.15
Winter, R.16
Bitner-Glindzicz, M.17
-
84
-
-
0029816813
-
Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR) 2 and FGFR2/Neu chimeras
-
Galvin BD, Hart KC, Meyer AN, Webster MK, Donoghue DJ. Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR) 2 and FGFR2/Neu chimeras. Proc Natl Acad Sci USA 1996;93:7894-9.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 7894-9
-
-
Galvin, B.D.1
Hart, K.C.2
Meyer, A.N.3
Webster, M.K.4
Donoghue, D.J.5
-
85
-
-
0028356625
-
A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10
-
DOI 10.1038/ng0694-149
-
Preston RA, Post JC, Keats BJ, Aston CE, Ferrell RE, Priest J, et al. A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10. Nat Genet 1994;7:149-53. (Pubitemid 24174652)
-
(1994)
Nature Genetics
, vol.7
, Issue.2
, pp. 149-153
-
-
Preston, R.A.1
Post, J.C.2
Keats, B.J.B.3
Aston, C.E.4
Ferrell, R.E.5
Priest, J.6
Nouri, N.7
Losken, H.W.8
Morris, C.A.9
Hurtt, M.R.10
Mulvihill, J.J.11
Ehrlich, G.D.12
-
86
-
-
0020689173
-
Genetic aspects of hemifacial microsomia
-
Burck U. Genetic aspects of hemifacial microsomia. Hum Genet 1983;64:291-6.
-
(1983)
Hum Genet
, vol.64
, pp. 291-6
-
-
Burck, U.1
-
87
-
-
18244364173
-
Hemifacial microsomia: Progress in understanding the genetic basis of a complex malformation syndrome
-
DOI 10.1007/s00439-001-0626-x
-
Kelberman D, Tyson J, Chandler DC, McInerney AM, Slee J, Albert D, et al. Hemifacial Microsomia progress in understanding the genetic basis of a complex malformation syndrome. Hum Genet 2001;109:638-45. (Pubitemid 34051418)
-
(2001)
Human Genetics
, vol.109
, Issue.6
, pp. 638-645
-
-
Kelberman, D.1
Tyson, J.2
Chandler, D.3
McInerney, A.4
Slee, J.5
Albert, D.6
Aymat, A.7
Botma, M.8
Calvert, M.9
Goldblatt, J.10
Haan, E.11
Laing, N.12
Lim, J.13
Malcolm, S.14
Singer, S.15
Winter, R.16
Bitner-Glindzicz, M.17
-
88
-
-
0018825144
-
Goldenhar syndrome and hemifacial microsomia: Observations on three patients
-
Thomas P. Goldenhar syndrome and Hemifacial microsomia: Observation on three patients. Europ J Pediat 1980;133:287-92. (Pubitemid 10112732)
-
(1980)
European Journal of Pediatrics
, vol.133
, Issue.3
, pp. 287-292
-
-
Thomas, P.1
-
89
-
-
0020534922
-
Cranial defects in the Goldenhar syndrome
-
Wilson GN. Cranial defects in the Goldenhar syndrome. Am J Med Genet 1983;14:435-43. (Pubitemid 13108931)
-
(1983)
American Journal of Medical Genetics
, vol.14
, Issue.3
, pp. 435-443
-
-
Wilson, G.N.1
-
90
-
-
0035882472
-
Pierre Robin sequence and interstitial deletion 2q32.3-q33.2
-
DOI 10.1002/ajmg.1448
-
Houdayer C, Portnoï MF, Vialard F, Soupre V, Crumière C, Taillemite JL, et al. Pierre Robin sequence and interstitial deletion 2q32.3-q33.2. Am J Med Genet 2001;102:219-26. (Pubitemid 32730269)
-
(2001)
American Journal of Medical Genetics
, vol.102
, Issue.3
, pp. 219-226
-
-
Houdayer, C.1
Portnoi, M.-F.2
Vialard, F.3
Soupre, V.4
Crumire, C.5
Taillemite, J.-L.6
Couderc, R.7
Vazquez, M.-P.8
Bahuau, M.9
-
91
-
-
0029119816
-
Treacher Collins syndrome
-
Dixon MJ. Treacher Collins syndrome. J Med Genet 1995;32:806-8.
-
(1995)
J Med Genet
, vol.32
, pp. 806-8
-
-
Dixon, M.J.1
-
92
-
-
0029814274
-
Treacher Collins syndrome
-
Dixon MJ. Treacher Collins syndrome. Hum Mol Genet 1996;5:1391-6. (Pubitemid 26293898)
-
(1996)
Human Molecular Genetics
, vol.5
, pp. 1391-1396
-
-
Dixon, M.J.1
-
93
-
-
0031038030
-
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon
-
Edwards SJ, Gladwin AJ, Dixon MJ. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am J Hum Genet 1997;60:515-24. (Pubitemid 27097599)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.3
, pp. 515-524
-
-
Edwards, S.J.1
Gladwin, A.J.2
Dixon, M.J.3
-
94
-
-
0025777019
-
The gene for treacher collins syndrome maps to the long arm of chromosome 5
-
Dixon MJ, Read AP, Donnai D, Colley A, Dixon J, Williamson R. The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. Am J Hum Genet 1991;49:17-22. (Pubitemid 21891648)
-
(1991)
American Journal of Human Genetics
, vol.49
, Issue.1
, pp. 17-22
-
-
Dixon, M.J.1
Read, A.P.2
Donnai, D.3
Colley, A.4
Dixon, J.5
Williamson, R.6
-
96
-
-
0025918135
-
Chromosomal deletion 4p15.32-p14 in a Treacher Collins syndrome patient: Exclusion of the disease locus from and mapping of anonymous DNA sequences to this region
-
Jabs EW, Coss CA, Hayflick SJ, Whitmore TE, Pauli RM, Kirkpatrick SJ, et al. Chromosomal deletion 4p15.32-p14 in a Treacher Collins syndrome patient: Exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. Genomics 1991;11:188-92.
-
(1991)
Genomics
, vol.11
, pp. 188-92
-
-
Jabs, E.W.1
Coss, C.A.2
Hayflick, S.J.3
Whitmore, T.E.4
Pauli, R.M.5
Kirkpatrick, S.J.6
-
97
-
-
0031686476
-
Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle
-
DOI 10.1093/hmg/7.11.1795
-
Marsh KL, Dixon J, Dixon MJ. Mutations in the Treacher Collins syndrome gene lead to mislocalization of the neucleolar protein treacle. Hum Mol Genet 1998;7:1795-800. (Pubitemid 28464155)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.11
, pp. 1795-1800
-
-
Marsh, K.L.1
Dixon, J.2
Dixon, M.J.3
|