-
1
-
-
0036800025
-
Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse
-
Abu-Issa R, Smyth G, Smoak I, Yamamura K, Meyers EN (2002). Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse. Development 129 : 4613 4625.
-
(2002)
Development
, vol.129
, pp. 4613-4625
-
-
Abu-Issa, R.1
Smyth, G.2
Smoak, I.3
Yamamura, K.4
Meyers, E.N.5
-
2
-
-
9644257521
-
The cellular and molecular etiology of the cleft secondary palate in Fgf10 mutant mice
-
Alappat SR, Zhang Z, Suzuki K et al (2005). The cellular and molecular etiology of the cleft secondary palate in Fgf10 mutant mice. Dev Biol 277 : 102 113.
-
(2005)
Dev Biol
, vol.277
, pp. 102-113
-
-
Alappat, S.R.1
Zhang, Z.2
Suzuki, K.3
Al, E.4
-
3
-
-
33749069523
-
SUMO1 haploinsufficiency leads to cleft lip and palate
-
Alkuraya FS, Saadi I, Lund JJ, Turbe-Doan A, Morton CC, Maas RL (2006). SUMO1 haploinsufficiency leads to cleft lip and palate. Science 313 : 1751.
-
(2006)
Science
, vol.313
, pp. 1751
-
-
Alkuraya, F.S.1
Saadi, I.2
Lund, J.J.3
Turbe-Doan, A.4
Morton, C.C.5
Maas, R.L.6
-
4
-
-
35349016254
-
TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression
-
Andreou AM, Pauws E, Jones MC et al (2007). TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression. Am J Hum Genet 81 : 700 712.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 700-712
-
-
Andreou, A.M.1
Pauws, E.2
Jones, M.C.3
Al, E.4
-
5
-
-
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 (1989). Association of genetic variation of the transforming growth factor- alpha gene with cleft lip and palate. Am J Hum Genet 45 : 348 353.
-
(1989)
Am J Hum Genet
, vol.45
, 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
-
6
-
-
33845246849
-
PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations
-
Avila JR, Jezewski PA, Vieira AR et al (2006). PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. Am J Med Genet A 140 : 2562 2570.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 2562-2570
-
-
Avila, J.R.1
Jezewski, P.A.2
Vieira, A.R.3
Al, E.4
-
7
-
-
0035145132
-
Expression of members of the Fgf family and their receptors during midfacial development
-
Bachler M, Neubuser A (2001). Expression of members of the Fgf family and their receptors during midfacial development. Mech Dev 100 : 313 316.
-
(2001)
Mech Dev
, vol.100
, pp. 313-316
-
-
Bachler, M.1
Neubuser, A.2
-
8
-
-
33750541484
-
Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations
-
Beaty TH, Hetmanski JB, Fallin MD et al (2006). Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations. Hum Genet 120 : 501 518.
-
(2006)
Hum Genet
, vol.120
, pp. 501-518
-
-
Beaty, T.H.1
Hetmanski, J.B.2
Fallin, M.D.3
Al, E.4
-
9
-
-
20444414889
-
Genomic, cDNA and embryonic expression analysis of zebrafish IRF6, the gene mutated in the human oral clefting disorders Van der Woude and popliteal pterygium syndromes
-
Ben J, Jabs EW, Chong SS (2005). Genomic, cDNA and embryonic expression analysis of zebrafish IRF6, the gene mutated in the human oral clefting disorders Van der Woude and popliteal pterygium syndromes. Gene Expr Patterns 5 : 629 638.
-
(2005)
Gene Expr Patterns
, vol.5
, pp. 629-638
-
-
Ben, J.1
Jabs, E.W.2
Chong, S.S.3
-
10
-
-
2442431757
-
Costs of cleft lip and palate: Personal and societal implications
-
In. Wyszynski, D.F. ed. Oxford University Press, Inc. New York, NY. pp.
-
Berk NW, Marazita ML (2002). Costs of cleft lip and palate: personal and societal implications. In : Wyszynski DF, ed. Cleft lip and palate: from origin to treatment. Oxford University Press, Inc : New York, NY, pp. 458 467.
-
(2002)
Cleft Lip and Palate: From Origin to Treatment.
, pp. 458-467
-
-
Berk, N.W.1
Marazita, M.L.2
-
11
-
-
63449105241
-
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
-
Birnbaum S, Ludwig KU, Reutter H et al (2009). Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet 41 : 473 477.
-
(2009)
Nat Genet
, vol.41
, pp. 473-477
-
-
Birnbaum, S.1
Ludwig, K.U.2
Reutter, H.3
Al, E.4
-
12
-
-
34250178071
-
Social function in boys with cleft lip and palate: Relationship to ventral frontal cortex morphology
-
Boes AD, Murko V, Wood JL et al (2007). Social function in boys with cleft lip and palate: relationship to ventral frontal cortex morphology. Behav Brain Res 181 : 224 231.
-
(2007)
Behav Brain Res
, vol.181
, pp. 224-231
-
-
Boes, A.D.1
Murko, V.2
Wood, J.L.3
Al, E.4
-
14
-
-
0034028899
-
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
-
van den Boogaard MJ, Dorland M, Beemer FA, van Amstel HK (2000). MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet 24 : 342 343.
-
(2000)
Nat Genet
, vol.24
, pp. 342-343
-
-
Van Den Boogaard, M.J.1
Dorland, M.2
Beemer, F.A.3
Van Amstel, H.K.4
-
15
-
-
34248338373
-
SUMO: Regulating the regulator
-
Bossis G, Melchior F (2006). SUMO: regulating the regulator. Cell Div 1 : 13.
-
(2006)
Cell Div
, vol.1
, pp. 13
-
-
Bossis, G.1
Melchior, F.2
-
16
-
-
8444223854
-
Requirement of the forkhead gene Foxe1, a target of sonic hedgehog signaling, in hair follicle morphogenesis
-
Brancaccio A, Minichiello A, Grachtchouk M et al (2004). Requirement of the forkhead gene Foxe1, a target of sonic hedgehog signaling, in hair follicle morphogenesis. Hum Mol Genet 13 : 2595 2606.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2595-2606
-
-
Brancaccio, A.1
Minichiello, A.2
Grachtchouk, M.3
Al, E.4
-
17
-
-
0034785350
-
The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia
-
Braybrook C, Doudney K, Marcano AC et al (2001). The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nat Genet 29 : 179 183.
-
(2001)
Nat Genet
, vol.29
, pp. 179-183
-
-
Braybrook, C.1
Doudney, K.2
Marcano, A.C.3
Al, E.4
-
18
-
-
0037108753
-
Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients
-
Braybrook C, Lisgo S, Doudney K et al (2002). Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. Hum Mol Genet 11 : 2793 2804.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2793-2804
-
-
Braybrook, C.1
Lisgo, S.2
Doudney, K.3
Al, E.4
-
19
-
-
0032231333
-
A chromosomal deletion map of human malformations
-
Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D (1998). A chromosomal deletion map of human malformations. Am J Hum Genet 63 : 1153 1159.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1153-1159
-
-
Brewer, C.1
Holloway, S.2
Zawalnyski, P.3
Schinzel, A.4
Fitzpatrick, D.5
-
20
-
-
0033361899
-
A chromosomal duplication map of malformations: Regions of suspected haplo- and triplolethality - And tolerance of segmental aneuploidy - In humans
-
Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D (1999). A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality - and tolerance of segmental aneuploidy - in humans. Am J Hum Genet 64 : 1702 1708.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1702-1708
-
-
Brewer, C.1
Holloway, S.2
Zawalnyski, P.3
Schinzel, A.4
Fitzpatrick, D.5
-
21
-
-
0037993966
-
Microarray analysis of murine palatogenesis: Temporal expression of genes during normal palate development
-
Brown NL, Knott L, Halligan E, Yarram SJ, Mansell JP, Sandy JR (2003). Microarray analysis of murine palatogenesis: temporal expression of genes during normal palate development. Dev Growth Differ 45 : 153 165.
-
(2003)
Dev Growth Differ
, vol.45
, pp. 153-165
-
-
Brown, N.L.1
Knott, L.2
Halligan, E.3
Yarram, S.J.4
Mansell, J.P.5
Sandy, J.R.6
-
22
-
-
0036841004
-
Isolation and developmental expression analysis of Tbx22, the mouse homolog of the human X-linked cleft palate gene
-
Bush JO, Lan Y, Maltby KM, Jiang R (2002). Isolation and developmental expression analysis of Tbx22, the mouse homolog of the human X-linked cleft palate gene. Dev Dyn 225 : 322 326.
-
(2002)
Dev Dyn
, vol.225
, pp. 322-326
-
-
Bush, J.O.1
Lan, Y.2
Maltby, K.M.3
Jiang, R.4
-
23
-
-
2342567596
-
The cleft lip and palate defects in Dancer mutant mice result from gain of function of the Tbx10 gene
-
Bush JO, Lan Y, Jiang R (2004). The cleft lip and palate defects in Dancer mutant mice result from gain of function of the Tbx10 gene. Proc Natl Acad Sci U S A 101 : 7022 7027.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 7022-7027
-
-
Bush, J.O.1
Lan, Y.2
Jiang, R.3
-
24
-
-
20244374082
-
Gene expression in pharyngeal arch 1 during human embryonic development
-
Cai J, Ash D, Kotch LE et al (2005). Gene expression in pharyngeal arch 1 during human embryonic development. Hum Mol Genet 14 : 903 912.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 903-912
-
-
Cai, J.1
Ash, D.2
Kotch, L.E.3
Al, E.4
-
25
-
-
22944463010
-
Wnt9b plays a central role in the regulation of mesenchymal to epithelial transitions underlying organogenesis of the mammalian urogenital system
-
Carroll TJ, Park JS, Hayashi S, Majumdar A, McMahon AP (2005). Wnt9b plays a central role in the regulation of mesenchymal to epithelial transitions underlying organogenesis of the mammalian urogenital system. Dev Cell 9 : 283 292.
-
(2005)
Dev Cell
, vol.9
, pp. 283-292
-
-
Carroll, T.J.1
Park, J.S.2
Hayashi, S.3
Majumdar, A.4
McMahon, A.P.5
-
26
-
-
0037101847
-
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate
-
Castanet M, Park SM, Smith A et al (2002). A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet 11 : 2051 2059.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2051-2059
-
-
Castanet, M.1
Park, S.M.2
Smith, A.3
Al, E.4
-
27
-
-
0029777408
-
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
-
Chiang C, Litingtung Y, Lee E et al (1996). Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 383 : 407 413.
-
(1996)
Nature
, vol.383
, pp. 407-413
-
-
Chiang, C.1
Litingtung, Y.2
Lee, E.3
Al, E.4
-
29
-
-
70349104877
-
The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P
-
2009 Dec 17. Epub ahead of print.
-
Choi SJ, Marazita ML, Hart PS et al (2008). The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P. Eur J Hum Genet 2009 Dec 17. Epub ahead of print.
-
(2008)
Eur J Hum Genet
-
-
Choi, S.J.1
Marazita, M.L.2
Hart, P.S.3
Al, E.4
-
30
-
-
2942705950
-
Long term follow up study of survival associated with cleft lip and palate at birth
-
Christensen K, Juel K, Herskind AM, Murray JC (2004). Long term follow up study of survival associated with cleft lip and palate at birth. BMJ 328 : 1405.
-
(2004)
BMJ
, vol.328
, pp. 1405
-
-
Christensen, K.1
Juel, K.2
Herskind, A.M.3
Murray, J.C.4
-
31
-
-
33746808398
-
Wnt/beta-catenin signaling in development and disease
-
Clevers H (2006). Wnt/beta-catenin signaling in development and disease. Cell 127 : 469 480.
-
(2006)
Cell
, vol.127
, pp. 469-480
-
-
Clevers, H.1
-
32
-
-
0031820442
-
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
-
Clifton-Bligh RJ, Wentworth JM, Heinz P et al (1998). Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet 19 : 399 401.
-
(1998)
Nat Genet
, vol.19
, pp. 399-401
-
-
Clifton-Bligh, R.J.1
Wentworth, J.M.2
Heinz, P.3
Al, E.4
-
33
-
-
33749252342
-
An introduction to Sonic Hedgehog Signaling
-
In. Epstein, C.J. Erickson, R.P. Wynshaw-Boris, A. eds. Oxford University Press. New York. pp.
-
Cohen MM Jr. (2004). An introduction to Sonic Hedgehog Signaling. In : Epstein CJ, Erickson RP, Wynshaw-Boris A, eds Inborn errors of development. Oxford University Press : New York, pp. 210 228.
-
(2004)
Inborn Errors of Development.
, pp. 210-228
-
-
Cohen, Jr.M.M.1
-
34
-
-
33749472755
-
Holoprosencephaly: Clinical, anatomic, and molecular dimensions
-
Cohen MM Jr. (2006). Holoprosencephaly: clinical, anatomic, and molecular dimensions. Birth Defects Res A Clin Mol Teratol 76 : 658 673.
-
(2006)
Birth Defects Res A Clin Mol Teratol
, vol.76
, pp. 658-673
-
-
Cohen, Jr.M.M.1
-
35
-
-
41849113415
-
Incidence of neurological soft signs in children with isolated cleft of the lip or palate
-
Conrad AL, Canady J, Richman L, Nopoulos P (2008). Incidence of neurological soft signs in children with isolated cleft of the lip or palate. Percept Mot Skills 106 : 197 206.
-
(2008)
Percept Mot Skills
, vol.106
, pp. 197-206
-
-
Conrad, A.L.1
Canady, J.2
Richman, L.3
Nopoulos, P.4
-
36
-
-
0037664291
-
TGF-beta3-dependent SMAD2 phosphorylation and inhibition of MEE proliferation during palatal fusion
-
Cui XM, Chai Y, Chen J et al (2003). TGF-beta3-dependent SMAD2 phosphorylation and inhibition of MEE proliferation during palatal fusion. Dev Dyn 227 : 387 394.
-
(2003)
Dev Dyn
, vol.227
, pp. 387-394
-
-
Cui, X.M.1
Chai, Y.2
Chen, J.3
Al, E.4
-
37
-
-
17344366813
-
A mouse model for hereditary thyroid dysgenesis and cleft palate
-
De Felice M, Ovitt C, Biffali E et al (1998). A mouse model for hereditary thyroid dysgenesis and cleft palate. Nat Genet 19 : 395 398.
-
(1998)
Nat Genet
, vol.19
, pp. 395-398
-
-
De Felice, M.1
Ovitt, C.2
Biffali, E.3
Al, E.4
-
38
-
-
6944220086
-
A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling
-
Ding H, Wu X, Bostrom H et al (2004). A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling. Nat Genet 36 : 1111 1116.
-
(2004)
Nat Genet
, vol.36
, pp. 1111-1116
-
-
Ding, H.1
Wu, X.2
Bostrom, H.3
Al, E.4
-
39
-
-
0034641134
-
Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome
-
Dixon J, Brakebusch C, Fassler R, Dixon MJ (2000). Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. Hum Mol Genet 9 : 1473 1480.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1473-1480
-
-
Dixon, J.1
Brakebusch, C.2
Fassler, R.3
Dixon, M.J.4
-
40
-
-
20244366799
-
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
-
Dode C, Levilliers J, Dupont JM et al (2003). Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 33 : 463 465.
-
(2003)
Nat Genet
, vol.33
, pp. 463-465
-
-
Dode, C.1
Levilliers, J.2
Dupont, J.M.3
Al, E.4
-
41
-
-
33846669882
-
Palatal fusion - Where do the midline cells go? A review on cleft palate, a major human birth defect
-
Dudas M, Li WY, Kim J, Yang A, Kaartinen V (2007). Palatal fusion - where do the midline cells go? A review on cleft palate, a major human birth defect. Acta Histochem 109 : 1 14.
-
(2007)
Acta Histochem
, vol.109
, pp. 1-14
-
-
Dudas, M.1
Li, W.Y.2
Kim, J.3
Yang, A.4
Kaartinen, V.5
-
42
-
-
39749151652
-
MicroRNA Mirn140 modulates Pdgf signaling during palatogenesis
-
Eberhart JK, He X, Swartz ME et al (2008). MicroRNA Mirn140 modulates Pdgf signaling during palatogenesis. Nat Genet 40 : 290 298.
-
(2008)
Nat Genet
, vol.40
, pp. 290-298
-
-
Eberhart, J.K.1
He, X.2
Swartz, M.E.3
Al, E.4
-
43
-
-
0034945729
-
Hypodontia and tooth formation in groups of children with cleft, siblings without cleft, and nonrelated controls
-
Eerens K, Vlietinck R, Heidbuchel K et al (2001). Hypodontia and tooth formation in groups of children with cleft, siblings without cleft, and nonrelated controls. Cleft Palate Craniofac J 38 : 374 378.
-
(2001)
Cleft Palate Craniofac J
, vol.38
, pp. 374-378
-
-
Eerens, K.1
Vlietinck, R.2
Heidbuchel, K.3
Al, E.4
-
44
-
-
0027231001
-
Complications of the naevoid basal cell carcinoma syndrome: Results of a population based study
-
Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA (1993). Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30 : 460 464.
-
(1993)
J Med Genet
, vol.30
, pp. 460-464
-
-
Evans, D.G.1
Ladusans, E.J.2
Rimmer, S.3
Burnell, L.D.4
Thakker, N.5
Farndon, P.A.6
-
45
-
-
16644362869
-
Identification of markers of the midface
-
Gong SG, Gong TW, Shum L (2005). Identification of markers of the midface. J Dent Res 84 : 69 72.
-
(2005)
J Dent Res
, vol.84
, pp. 69-72
-
-
Gong, S.G.1
Gong, T.W.2
Shum, L.3
-
46
-
-
4344622062
-
Perspectives on growth factors and orofacial development
-
Greene RM, Pisano MM (2004). Perspectives on growth factors and orofacial development. Curr Pharm Des 10 : 2701 2717.
-
(2004)
Curr Pharm des
, vol.10
, pp. 2701-2717
-
-
Greene, R.M.1
Pisano, M.M.2
-
47
-
-
33846048399
-
Molecular control of secondary palate development
-
Gritli-Linde A (2007). Molecular control of secondary palate development. Dev Biol 301 : 309 326.
-
(2007)
Dev Biol
, vol.301
, pp. 309-326
-
-
Gritli-Linde, A.1
-
48
-
-
58849138018
-
The etiopathogenesis of cleft lip and cleft palate usefulness and caveats of mouse models
-
Gritli-Linde A (2008). The etiopathogenesis of cleft lip and cleft palate usefulness and caveats of mouse models. Curr Top Dev Biol 84 : 37 138.
-
(2008)
Curr Top Dev Biol
, vol.84
, pp. 37-138
-
-
Gritli-Linde, A.1
-
49
-
-
43449110113
-
Mice with an anterior cleft of the palate survive neonatal lethality
-
Gu S, Wei N, Yu X, Jiang Y, Fei J, Chen Y (2008). Mice with an anterior cleft of the palate survive neonatal lethality. Dev Dyn 237 : 1509 1516.
-
(2008)
Dev Dyn
, vol.237
, pp. 1509-1516
-
-
Gu, S.1
Wei, N.2
Yu, X.3
Jiang, Y.4
Fei, J.5
Chen, Y.6
-
50
-
-
33750466561
-
PDGF-C controls proliferation and is down-regulated by retinoic acid in mouse embryonic palatal mesenchymal cells
-
Han J, Xiao Y, Lin J, Li Y (2006). PDGF-C controls proliferation and is down-regulated by retinoic acid in mouse embryonic palatal mesenchymal cells. Birth Defects Res B Dev Reprod Toxicol 77 : 438 444.
-
(2006)
Birth Defects Res B Dev Reprod Toxicol
, vol.77
, pp. 438-444
-
-
Han, J.1
Xiao, Y.2
Lin, J.3
Li, Y.4
-
51
-
-
23944476415
-
Cleft lip and palate versus cleft lip only: Are they distinct defects?
-
Harville EW, Wilcox AJ, Lie RT, Vindenes H, Abyholm F (2005). Cleft lip and palate versus cleft lip only: are they distinct defects? Am J Epidemiol 162 : 448 453.
-
(2005)
Am J Epidemiol
, vol.162
, pp. 448-453
-
-
Harville, E.W.1
Wilcox, A.J.2
Lie, R.T.3
Vindenes, H.4
Abyholm, F.5
-
52
-
-
41149106868
-
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project
-
Higgins AW, Alkuraya FS, Bosco AF et al (2008). Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet 82 : 712 722.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 712-722
-
-
Higgins, A.W.1
Alkuraya, F.S.2
Bosco, A.F.3
Al, E.4
-
53
-
-
0032749014
-
The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis
-
Hu D, Helms JA (1999). The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis. Development 126 : 4873 4884.
-
(1999)
Development
, vol.126
, pp. 4873-4884
-
-
Hu, D.1
Helms, J.A.2
-
54
-
-
33750452339
-
Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)
-
Ingraham CR, Kinoshita A, Kondo S et al (2006). Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). Nat Genet 38 : 1335 1340.
-
(2006)
Nat Genet
, vol.38
, pp. 1335-1340
-
-
Ingraham, C.R.1
Kinoshita, A.2
Kondo, S.3
Al, E.4
-
55
-
-
1942466507
-
Hedgehog signaling in the neural crest cells regulates the patterning and growth of facial primordia
-
Jeong J, Mao J, Tenzen T, Kottmann AH, McMahon AP (2004). Hedgehog signaling in the neural crest cells regulates the patterning and growth of facial primordia. Genes Dev 18 : 937 951.
-
(2004)
Genes Dev
, vol.18
, pp. 937-951
-
-
Jeong, J.1
Mao, J.2
Tenzen, T.3
Kottmann, A.H.4
McMahon, A.P.5
-
56
-
-
0035098557
-
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
-
Jerome LA, Papaioannou VE (2001). DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet 27 : 286 291.
-
(2001)
Nat Genet
, vol.27
, pp. 286-291
-
-
Jerome, L.A.1
Papaioannou, V.E.2
-
57
-
-
0038545785
-
Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate
-
Jezewski PA, Vieira AR, Nishimura C et al (2003). Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet 40 : 399 407.
-
(2003)
J Med Genet
, vol.40
, pp. 399-407
-
-
Jezewski, P.A.1
Vieira, A.R.2
Nishimura, C.3
Al, E.4
-
58
-
-
33744919790
-
Development of the upper lip: Morphogenetic and molecular mechanisms
-
Jiang R, Bush JO, Lidral AC (2006). Development of the upper lip: morphogenetic and molecular mechanisms. Dev Dyn 235 : 1152 1166.
-
(2006)
Dev Dyn
, vol.235
, pp. 1152-1166
-
-
Jiang, R.1
Bush, J.O.2
Lidral, A.C.3
-
59
-
-
19444374276
-
Orofacial clefting: Recent insights into a complex trait
-
Jugessur A, Murray JC (2005). Orofacial clefting: recent insights into a complex trait. Curr Opin Genet Dev 15 : 270 278.
-
(2005)
Curr Opin Genet Dev
, vol.15
, pp. 270-278
-
-
Jugessur, A.1
Murray, J.C.2
-
60
-
-
48949118893
-
Genetic variants in IRF6 and the risk of facial clefts: Single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway
-
Jugessur A, Rahimov F, Lie RT et al (2008). Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway. Genet Epidemiol 32 : 413 424.
-
(2008)
Genet Epidemiol
, vol.32
, pp. 413-424
-
-
Jugessur, A.1
Rahimov, F.2
Lie, R.T.3
Al, E.4
-
61
-
-
65549094033
-
Genetic Determinants of Facial Clefting: Analysis of 357 Candidate Genes Using Two National Cleft Studies from Scandinavia
-
Jugessur A, Shi M, Gjessing HK et al (2009). Genetic Determinants of Facial Clefting: Analysis of 357 Candidate Genes Using Two National Cleft Studies from Scandinavia. PLoS ONE 4 : e5385.
-
(2009)
PLoS ONE
-
-
Jugessur, A.1
Shi, M.2
Gjessing, H.K.3
Al, E.4
-
62
-
-
3242718291
-
Mapping studies in animal models
-
In. Wyszynski, D.F. ed. Oxford University Press. New York, NY. pp.
-
Juriloff DM (2002). Mapping studies in animal models. In : Wyszynski DF, ed. Cleft Lip and Palate: From Origin to Treatment. Oxford University Press : New York, NY, pp. 265 282.
-
(2002)
Cleft Lip and Palate: From Origin to Treatment.
, pp. 265-282
-
-
Juriloff, D.M.1
-
64
-
-
4444277760
-
A digenic cause of cleft lip in A-strain mice and definition of candidate genes for the two loci
-
Juriloff DM, Harris MJ, Dewell SL (2004). A digenic cause of cleft lip in A-strain mice and definition of candidate genes for the two loci. Birth Defects Res A Clin Mol Teratol 70 : 509 518.
-
(2004)
Birth Defects Res A Clin Mol Teratol
, vol.70
, pp. 509-518
-
-
Juriloff, D.M.1
Harris, M.J.2
Dewell, S.L.3
-
65
-
-
33749045017
-
Wnt9b is the mutated gene involved in multifactorial nonsyndromic cleft lip with or without cleft palate in A/WySn mice, as confirmed by a genetic complementation test
-
Juriloff DM, Harris MJ, McMahon AP, Carroll TJ, Lidral AC (2006). Wnt9b is the mutated gene involved in multifactorial nonsyndromic cleft lip with or without cleft palate in A/WySn mice, as confirmed by a genetic complementation test. Birth Defects Res A Clin Mol Teratol 76 : 574 579.
-
(2006)
Birth Defects Res A Clin Mol Teratol
, vol.76
, pp. 574-579
-
-
Juriloff, D.M.1
Harris, M.J.2
McMahon, A.P.3
Carroll, T.J.4
Lidral, A.C.5
-
66
-
-
0036841684
-
PI-3 kinase activity is required for epithelial-mesenchymal transformation during palate fusion
-
Kang P, Svoboda KK (2002). PI-3 kinase activity is required for epithelial-mesenchymal transformation during palate fusion. Dev Dyn 225 : 316 321.
-
(2002)
Dev Dyn
, vol.225
, pp. 316-321
-
-
Kang, P.1
Svoboda, K.K.2
-
67
-
-
33744922620
-
Developmental expression analysis of the mouse and chick orthologues of IRF6: The gene mutated in Van der Woude syndrome
-
Knight AS, Schutte BC, Jiang R, Dixon MJ (2006). Developmental expression analysis of the mouse and chick orthologues of IRF6: the gene mutated in Van der Woude syndrome. Dev Dyn 235 : 1441 1447.
-
(2006)
Dev Dyn
, vol.235
, pp. 1441-1447
-
-
Knight, A.S.1
Schutte, B.C.2
Jiang, R.3
Dixon, M.J.4
-
68
-
-
35348822545
-
Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes
-
Kobrynski LJ, Sullivan KE (2007). Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370 : 1443 1452.
-
(2007)
Lancet
, vol.370
, pp. 1443-1452
-
-
Kobrynski, L.J.1
Sullivan, K.E.2
-
69
-
-
18644374446
-
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
-
Kondo S, Schutte BC, Richardson RJ et al (2002). Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 32 : 285 289.
-
(2002)
Nat Genet
, vol.32
, pp. 285-289
-
-
Kondo, S.1
Schutte, B.C.2
Richardson, R.J.3
Al, E.4
-
71
-
-
33745509671
-
A mutation of the p63 gene in non-syndromic cleft lip
-
Leoyklang P, Siriwan P, Shotelersuk V (2006). A mutation of the p63 gene in non-syndromic cleft lip. J Med Genet 43 : e28.
-
(2006)
J Med Genet
, vol.43
, pp. 28
-
-
Leoyklang, P.1
Siriwan, P.2
Shotelersuk, V.3
-
72
-
-
35348870990
-
Defining subphenotypes for oral clefts based on dental development
-
Letra A, Menezes R, Granjeiro JM, Vieira AR (2007). Defining subphenotypes for oral clefts based on dental development. J Dent Res 86 : 986 991.
-
(2007)
J Dent Res
, vol.86
, pp. 986-991
-
-
Letra, A.1
Menezes, R.2
Granjeiro, J.M.3
Vieira, A.R.4
-
73
-
-
28044448897
-
Progress toward discerning the genetics of cleft lip
-
Lidral AC, Moreno LM (2005). Progress toward discerning the genetics of cleft lip. Curr Opin Pediatr 17 : 731 739.
-
(2005)
Curr Opin Pediatr
, vol.17
, pp. 731-739
-
-
Lidral, A.C.1
Moreno, L.M.2
-
74
-
-
11144325124
-
Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model
-
Lidral AC, Murray JC (2004). Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model. Birth Defects Res A Clin Mol Teratol 70 : 893 901.
-
(2004)
Birth Defects Res A Clin Mol Teratol
, vol.70
, pp. 893-901
-
-
Lidral, A.C.1
Murray, J.C.2
-
75
-
-
0028225808
-
A population-based study of the risk of recurrence of birth defects
-
Lie RT, Wilcox AJ, Skjaerven R (1994). A population-based study of the risk of recurrence of birth defects. N Engl J Med 331 : 1 4.
-
(1994)
N Engl J Med
, vol.331
, pp. 1-4
-
-
Lie, R.T.1
Wilcox, A.J.2
Skjaerven, R.3
-
76
-
-
70349131331
-
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
-
de Lima RL, Hoper SA, Ghassibe M et al (2009). Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genet Med 11 : 241 247.
-
(2009)
Genet Med
, vol.11
, pp. 241-247
-
-
De Lima, R.L.1
Hoper, S.A.2
Ghassibe, M.3
Al, E.4
-
77
-
-
58749095318
-
Mis-sense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6
-
Little HJ, Rorick NK, Su LI et al (2008). Mis-sense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. Hum Mol Genet 18 : 535 545.
-
(2008)
Hum Mol Genet
, vol.18
, pp. 535-545
-
-
Little, H.J.1
Rorick, N.K.2
Su, L.I.3
Al, E.4
-
78
-
-
22144475798
-
Threshold-specific requirements for Bmp4 in mandibular development
-
Liu W, Selever J, Murali D et al (2005a). Threshold-specific requirements for Bmp4 in mandibular development. Dev Biol 283 : 282 293.
-
(2005)
Dev Biol
, vol.283
, pp. 282-293
-
-
Liu, W.1
Selever, J.2
Murali, D.3
Al, E.4
-
79
-
-
17244369769
-
Distinct functions for Bmp signaling in lip and palate fusion in mice
-
Liu W, Sun X, Braut A et al (2005b). Distinct functions for Bmp signaling in lip and palate fusion in mice. Development 132 : 1453 1461.
-
(2005)
Development
, vol.132
, pp. 1453-1461
-
-
Liu, W.1
Sun, X.2
Braut, A.3
Al, E.4
-
80
-
-
59749093035
-
The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice
-
Liu W, Lan Y, Pauws E et al (2008). The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice. Development 135 : 3959 3968.
-
(2008)
Development
, vol.135
, pp. 3959-3968
-
-
Liu, W.1
Lan, Y.2
Pauws, E.3
Al, E.4
-
82
-
-
34547118117
-
Subclinical features in non-syndromic cleft lip with or without cleft palate (CL/P): Review of the evidence that subepithelial orbicularis oris muscle defects are part of an expanded phenotype for CL/P
-
Marazita ML (2007). Subclinical features in non-syndromic cleft lip with or without cleft palate (CL/P): review of the evidence that subepithelial orbicularis oris muscle defects are part of an expanded phenotype for CL/P. Orthod Craniofac Res 10 : 82 87.
-
(2007)
Orthod Craniofac Res
, vol.10
, pp. 82-87
-
-
Marazita, M.L.1
-
84
-
-
3242672318
-
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35
-
Marazita ML, Murray JC, Lidral AC et al (2004). Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet 75 : 161 173.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 161-173
-
-
Marazita, M.L.1
Murray, J.C.2
Lidral, A.C.3
Al, E.4
-
85
-
-
65549128464
-
Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype specific differences in linkage and association results
-
In press.
-
Marazita ML, Lidral AC, Murray JC et al (2009). Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype specific differences in linkage and association results. Hum Hered In press.
-
(2009)
Hum Hered
-
-
Marazita, M.L.1
Lidral, A.C.2
Murray, J.C.3
Al, E.4
-
87
-
-
0027384918
-
Extension ofo the cleft lip phenotype: The subepithelial cleft
-
Martin RA, Jones KL, Benirschke K (1993). Extension ofo the cleft lip phenotype: the subepithelial cleft. Am J Med Genet 47 : 744 747.
-
(1993)
Am J Med Genet
, vol.47
, pp. 744-747
-
-
Martin, R.A.1
Jones, K.L.2
Benirschke, K.3
-
88
-
-
0034677193
-
Ultrasonographic detection of orbicularis oris defects in first degree relativesl of isolated cleft lip patients
-
Martin RA, Hunter V, Neufeld-Kaiser W, Flodman P, Spence MA, Furnas D (2000). Ultrasonographic detection of orbicularis oris defects in first degree relativesl of isolated cleft lip patients. Am J Med Genet 90 : 155 161.
-
(2000)
Am J Med Genet
, vol.90
, pp. 155-161
-
-
Martin, R.A.1
Hunter, V.2
Neufeld-Kaiser, W.3
Flodman, P.4
Spence, M.A.5
Furnas, D.6
-
89
-
-
0342635464
-
Medial edge epithelial cell fate during palatal fusion
-
DOI 10.1006/dbio.2000.9644
-
Martinez-Alvarez C, Tudela C, Perez-Miguelsanz J, O'Kane S, Puerta J, Ferguson MW (2000). Medial edge epithelial cell fate during palatal fusion. Dev Biol 220 : 343 357. (Pubitemid 30228158)
-
(2000)
Developmental Biology
, vol.220
, Issue.2
, pp. 343-357
-
-
Martinez-Alvarez, C.1
Tudela, C.2
Perez-Miguelsanz, J.3
O'Kane, S.4
Puerta, J.5
Ferguson, M.W.J.6
-
90
-
-
42049094234
-
Alteration of medial-edge epithelium cell adhesion in two Tgf-beta3 null mouse strains
-
Martinez-Sanz E, Del RioA, Barrio C et al (2008). Alteration of medial-edge epithelium cell adhesion in two Tgf-beta3 null mouse strains. Differentiation 76 : 417 430.
-
(2008)
Differentiation
, vol.76
, pp. 417-430
-
-
Martinez-Sanz, E.1
Del, R.A.2
Barrio, C.3
Al, E.4
-
91
-
-
48649102307
-
Dental anomalies as part of the cleft spectrum
-
Menezes R, Vieira AR (2008). Dental anomalies as part of the cleft spectrum. Cleft Palate Craniofac J 45 : 414 419.
-
(2008)
Cleft Palate Craniofac J
, vol.45
, pp. 414-419
-
-
Menezes, R.1
Vieira, A.R.2
-
93
-
-
42749083170
-
TFAP2A mutations result in branchio-oculo-facial syndrome
-
Milunsky JM, Maher TA, Zhao G et al (2008). TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet 82 : 1171 1177.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 1171-1177
-
-
Milunsky, J.M.1
Maher, T.A.2
Zhao, G.3
Al, E.4
-
95
-
-
0242670655
-
Epidemiology of oral clefts: An international perspective
-
In. Wyszynski, D.F.E. ed. Oxford University Press. New York, NY. pp.
-
Mossey PA, Little J (2002). Epidemiology of oral clefts: an international perspective. In : Wyszynski DFE, ed. Cleft lip and palate: from origin to treatment. Oxford University Press : New York, NY, pp. 127 144.
-
(2002)
Cleft Lip and Palate: From Origin to Treatment.
, pp. 127-144
-
-
Mossey, P.A.1
Little, J.2
-
96
-
-
11144298216
-
Developmental gene expression profiling of mammalian, fetal orofacial tissue
-
Mukhopadhyay P, Greene RM, Zacharias W et al (2004). Developmental gene expression profiling of mammalian, fetal orofacial tissue. Birth Defects Res A Clin Mol Teratol 70 : 912 926.
-
(2004)
Birth Defects Res A Clin Mol Teratol
, vol.70
, pp. 912-926
-
-
Mukhopadhyay, P.1
Greene, R.M.2
Zacharias, W.3
Al, E.4
-
97
-
-
0036899614
-
Pathways and consequences: Hedgehog signaling in human disease
-
Mullor JL, Sanchez P, Ruiz i Altaba A (2002). Pathways and consequences: Hedgehog signaling in human disease. Trends Cell Biol 12 : 562 569.
-
(2002)
Trends Cell Biol
, vol.12
, pp. 562-569
-
-
Mullor, J.L.1
Sanchez, P.2
Ruiz Altaba, I.A.3
-
98
-
-
60549091553
-
Interactions between TGF-beta1 and TGF-beta3 and their role in medial edge epithelium cell death and palatal fusion in vitro
-
Murillo J, Maldonado E, Barrio MC et al (2009). Interactions between TGF-beta1 and TGF-beta3 and their role in medial edge epithelium cell death and palatal fusion in vitro. Differentiation 77 : 209 220.
-
(2009)
Differentiation
, vol.77
, pp. 209-220
-
-
Murillo, J.1
Maldonado, E.2
Barrio, M.C.3
Al, E.4
-
99
-
-
3042842601
-
Cleft palate: Players, pathways, and pursuits
-
Murray JC, Schutte BC (2004). Cleft palate: players, pathways, and pursuits. J Clin Invest 113 : 1676 1678.
-
(2004)
J Clin Invest
, vol.113
, pp. 1676-1678
-
-
Murray, J.C.1
Schutte, B.C.2
-
100
-
-
3342934231
-
Transforming growth factor beta (TGFbeta) signalling in palatal growth, apoptosis and epithelial mesenchymal transformation (EMT)
-
Nawshad A, LaGamba D, Hay ED (2004). Transforming growth factor beta (TGFbeta) signalling in palatal growth, apoptosis and epithelial mesenchymal transformation (EMT). Arch Oral Biol 49 : 675 689.
-
(2004)
Arch Oral Biol
, vol.49
, pp. 675-689
-
-
Nawshad, A.1
Lagamba, D.2
Hay, E.D.3
-
101
-
-
33745669420
-
Candidate genes for oral-facial clefts in Guatemalan families
-
Discussion 521.
-
Neiswanger K, Deleyiannis FW, Avila JR et al (2006). Candidate genes for oral-facial clefts in Guatemalan families. Ann Plast Surg 56 : 518 521. Discussion 521.
-
(2006)
Ann Plast Surg
, vol.56
, pp. 518-521
-
-
Neiswanger, K.1
Deleyiannis, F.W.2
Avila, J.R.3
Al, E.4
-
102
-
-
34249890789
-
Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate
-
Neiswanger K, Weinberg SM, Rogers CR et al (2007). Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate. Am J Med Genet A. 143 : 1143 1149.
-
(2007)
Am J Med Genet A.
, vol.143
, pp. 1143-1149
-
-
Neiswanger, K.1
Weinberg, S.M.2
Rogers, C.R.3
Al, E.4
-
103
-
-
33645130993
-
FGF signalling in craniofacial development and developmental disorders
-
Nie X, Luukko K, Kettunen P (2006). FGF signalling in craniofacial development and developmental disorders. Oral Dis 12 : 102 111.
-
(2006)
Oral Dis
, vol.12
, pp. 102-111
-
-
Nie, X.1
Luukko, K.2
Kettunen, P.3
-
104
-
-
1542314309
-
Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family
-
Niemann S, Zhao C, Pascu F et al (2004). Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet 74 : 558 563.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 558-563
-
-
Niemann, S.1
Zhao, C.2
Pascu, F.3
Al, E.4
-
105
-
-
2342529911
-
MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia
-
Nieminen P, Kotilainen J, Aalto Y, Knuutila S, Pirinen S, Thesleff I (2003). MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. J Dent Res 82 : 1013 1017.
-
(2003)
J Dent Res
, vol.82
, pp. 1013-1017
-
-
Nieminen, P.1
Kotilainen, J.2
Aalto, Y.3
Knuutila, S.4
Pirinen, S.5
Thesleff, I.6
-
106
-
-
0346996450
-
Signal transduction of bone morphogenetic protein receptors
-
Nohe A, Keating E, Knaus P, Petersen NO (2004). Signal transduction of bone morphogenetic protein receptors. Cell Signal 16 : 291 299.
-
(2004)
Cell Signal
, vol.16
, pp. 291-299
-
-
Nohe, A.1
Keating, E.2
Knaus, P.3
Petersen, N.O.4
-
107
-
-
34547820974
-
Abnormal brain structure in children with isolated clefts of the lip or palate.[see comment]
-
Nopoulos P, Langbehn DR, Canady J, Magnotta V, Richman L (2007a). Abnormal brain structure in children with isolated clefts of the lip or palate.[see comment]. Arch Pediatr Adolesc Med 161 : 753 758.
-
(2007)
Arch Pediatr Adolesc Med
, vol.161
, pp. 753-758
-
-
Nopoulos, P.1
Langbehn, D.R.2
Canady, J.3
Magnotta, V.4
Richman, L.5
-
108
-
-
34249673434
-
Abnormal brain structure in adults with Van der Woude syndrome
-
DOI 10.1111/j.1399-0004.2007.00799.x
-
Nopoulos P, Richman L, Andreasen NC, Murray JC, Schutte B (2007b). Abnormal brain structure in adults with Van der Woude syndrome. Clin Genet 71 : 511 517. (Pubitemid 46831945)
-
(2007)
Clinical Genetics
, vol.71
, Issue.6
, pp. 511-517
-
-
Nopoulos, P.1
Richman, L.2
Andreasen, N.C.3
Murray, J.C.4
Schutte, B.5
-
109
-
-
0032506118
-
AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice
-
Nottoli T, Hagopian-Donaldson S, Zhang J, Perkins A, Williams T (1998). AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice. Proc Natl Acad Sci U S A 95 : 13714 13719.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 13714-13719
-
-
Nottoli, T.1
Hagopian-Donaldson, S.2
Zhang, J.3
Perkins, A.4
Williams, T.5
-
110
-
-
34548522850
-
The development of the neural crest in the human
-
O'Rahilly R, Muller F (2007). The development of the neural crest in the human. J Anat 211 : 335 351.
-
(2007)
J Anat
, vol.211
, pp. 335-351
-
-
O'Rahilly, R.1
Muller, F.2
-
111
-
-
36549047903
-
FGF signalling and SUMO modification: New players in the aetiology of cleft lip and/or palate
-
Pauws E, Stanier P (2007). FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate. Trends Genet 23 : 631 640.
-
(2007)
Trends Genet
, vol.23
, pp. 631-640
-
-
Pauws, E.1
Stanier, P.2
-
112
-
-
33646733029
-
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome
-
Paylor R, Glaser B, Mupo A et al (2006). Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A 103 : 7729 7734.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 7729-7734
-
-
Paylor, R.1
Glaser, B.2
Mupo, A.3
Al, E.4
-
113
-
-
55049105999
-
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip
-
Rahimov F, Marazita ML, Visel A et al (2008). Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet 40 : 1341 1347.
-
(2008)
Nat Genet
, vol.40
, pp. 1341-1347
-
-
Rahimov, F.1
Marazita, M.L.2
Visel, A.3
Al, E.4
-
114
-
-
0037341526
-
Dental anomalies of the permanent lateral incisors and prevalence of hypodontia outside the cleft area in complete unilateral cleft lip and palate
-
Ribeiro LL, Teixeira Das Neves L, Costa B, Ribeiro Gomide M (2003). Dental anomalies of the permanent lateral incisors and prevalence of hypodontia outside the cleft area in complete unilateral cleft lip and palate. Cleft Palate Craniofac J 40 : 172 175.
-
(2003)
Cleft Palate Craniofac J
, vol.40
, pp. 172-175
-
-
Ribeiro, L.L.1
Teixeira Das Neves, L.2
Costa, B.3
Ribeiro Gomide, M.4
-
115
-
-
85047690938
-
Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate
-
Rice R, Spencer-Dene B, Connor EC et al (2004). Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate. J Clin Invest 113 : 1692 1700.
-
(2004)
J Clin Invest
, vol.113
, pp. 1692-1700
-
-
Rice, R.1
Spencer-Dene, B.2
Connor, E.C.3
Al, E.4
-
116
-
-
33750441851
-
Irf6 is a key determinant of the keratinocyte proliferation- differentiation switch
-
Richardson RJ, Dixon J, Malhotra S et al (2006). Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch. Nat Genet 38 : 1329 1334.
-
(2006)
Nat Genet
, vol.38
, pp. 1329-1334
-
-
Richardson, R.J.1
Dixon, J.2
Malhotra, S.3
Al, E.4
-
117
-
-
37249067069
-
Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases
-
Riley BM, Murray JC (2007). Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases. Am J Med Genet A 143 : 3228 3234.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 3228-3234
-
-
Riley, B.M.1
Murray, J.C.2
-
120
-
-
0030294408
-
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
-
Roessler E, Belloni E, Gaudenz K et al (1996). Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 14 : 357 360.
-
(1996)
Nat Genet
, vol.14
, pp. 357-360
-
-
Roessler, E.1
Belloni, E.2
Gaudenz, K.3
Al, E.4
-
121
-
-
0344392285
-
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features
-
Roessler E, Du YZ, Mullor JL et al (2003). Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A 100 : 13424 13429.
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 13424-13429
-
-
Roessler, E.1
Du, Y.Z.2
Mullor, J.L.3
Al, E.4
-
122
-
-
0028292605
-
Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development
-
Satokata I, Maas R (1994). Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 6 : 348 356.
-
(1994)
Nat Genet
, vol.6
, pp. 348-356
-
-
Satokata, I.1
Maas, R.2
-
123
-
-
0029932086
-
Transcription factor AP-2 essential for cranial closure and craniofacial development
-
Schorle H, Meier P, Buchert M, Jaenisch R, Mitchell PJ (1996). Transcription factor AP-2 essential for cranial closure and craniofacial development. Nature 381 : 235 238.
-
(1996)
Nature
, vol.381
, pp. 235-238
-
-
Schorle, H.1
Meier, P.2
Buchert, M.3
Jaenisch, R.4
Mitchell, P.J.5
-
124
-
-
70349094220
-
Wnt signaling pathways
-
In. Epstein, C.J. Erickson, R.P. Wynshaw-Boris, A. eds. Oxford University Press. New York. pp.
-
Sheldahl LC, Moon RT (2004). Wnt signaling pathways. In : Epstein CJ, Erickson RP, Wynshaw-Boris A, eds Inborn errors of development. Oxford University Press : New York, pp. 272 281.
-
(2004)
Inborn Errors of Development.
, pp. 272-281
-
-
Sheldahl, L.C.1
Moon, R.T.2
-
126
-
-
39749201491
-
Familial risk of oral clefts by morphological type and severity: Population based cohort study of first degree relatives
-
Sivertsen A, Wilcox AJ, Skjaerven R et al (2008). Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relatives. BMJ 336 : 432 434.
-
(2008)
BMJ
, vol.336
, pp. 432-434
-
-
Sivertsen, A.1
Wilcox, A.J.2
Skjaerven, R.3
Al, E.4
-
127
-
-
0037566585
-
Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region
-
Slayton RL, Williams L, Murray JC, Wheeler JJ, Lidral AC, Nishimura CJ (2003). Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region. Cleft Palate Craniofac J 40 : 274 279.
-
(2003)
Cleft Palate Craniofac J
, vol.40
, pp. 274-279
-
-
Slayton, R.L.1
Williams, L.2
Murray, J.C.3
Wheeler, J.J.4
Lidral, A.C.5
Nishimura, C.J.6
-
128
-
-
0034789530
-
Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela
-
Sozen MA, Suzuki K, Tolarova MM, Bustos T, Fernandez Iglesias JE, Spritz RA (2001). Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. Nat Genet 29 : 141 142.
-
(2001)
Nat Genet
, vol.29
, 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
-
129
-
-
0037151769
-
Molecular features of human ubiquitin-like SUMO genes and their encoded proteins
-
Su HL, Li SS (2002). Molecular features of human ubiquitin-like SUMO genes and their encoded proteins. Gene 296 : 65 73.
-
(2002)
Gene
, vol.296
, pp. 65-73
-
-
Su, H.L.1
Li, S.S.2
-
130
-
-
35348897929
-
TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population
-
Suphapeetiporn K, Tongkobpetch S, Siriwan P, Shotelersuk V (2007). TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. Clin Genet 72 : 478 483.
-
(2007)
Clin Genet
, vol.72
, pp. 478-483
-
-
Suphapeetiporn, K.1
Tongkobpetch, S.2
Siriwan, P.3
Shotelersuk, V.4
-
131
-
-
0034425423
-
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
-
Suzuki K, Hu D, Bustos T et al (2000). Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet 25 : 427 430.
-
(2000)
Nat Genet
, vol.25
, pp. 427-430
-
-
Suzuki, K.1
Hu, D.2
Bustos, T.3
Al, E.4
-
132
-
-
61849147400
-
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip
-
Suzuki S, Marazita ML, Cooper ME et al (2009). Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet 84 : 406 411.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 406-411
-
-
Suzuki, S.1
Marazita, M.L.2
Cooper, M.E.3
Al, E.4
-
133
-
-
0037227318
-
Fgfr1 regulates patterning of the pharyngeal region
-
Trokovic N, Trokovic R, Mai P, Partanen J (2003). Fgfr1 regulates patterning of the pharyngeal region. Genes Dev 17 : 141 153.
-
(2003)
Genes Dev
, vol.17
, pp. 141-153
-
-
Trokovic, N.1
Trokovic, R.2
Mai, P.3
Partanen, J.4
-
134
-
-
0035987298
-
TGF-beta3 is required for the adhesion and intercalation of medial edge epithelial cells during palate fusion
-
Tudela C, Formoso MA, Martinez T et al (2002). TGF-beta3 is required for the adhesion and intercalation of medial edge epithelial cells during palate fusion. Int J Dev Biol 46 : 333 336.
-
(2002)
Int J Dev Biol
, vol.46
, pp. 333-336
-
-
Tudela, C.1
Formoso, M.A.2
Martinez, T.3
Al, E.4
-
135
-
-
33646243018
-
Association between the transforming growth factor alpha gene and nonsyndromic oral clefts: A HuGE review
-
Vieira AR (2006). Association between the transforming growth factor alpha gene and nonsyndromic oral clefts: a HuGE review. Am J Epidemiol 163 : 790 810.
-
(2006)
Am J Epidemiol
, vol.163
, pp. 790-810
-
-
Vieira, A.R.1
-
136
-
-
4644312296
-
MSX1, PAX9, and TGFA contribute to tooth agenesis in humans.[see comment]
-
Vieira AR, Meira R, Modesto A, Murray JC (2004). MSX1, PAX9, and TGFA contribute to tooth agenesis in humans.[see comment]. J Dent Res 83 : 723 727.
-
(2004)
J Dent Res
, vol.83
, pp. 723-727
-
-
Vieira, A.R.1
Meira, R.2
Modesto, A.3
Murray, J.C.4
-
137
-
-
34547516140
-
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate
-
Vieira AR, Avila JR, Daack-Hirsch S et al (2005). Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet 1 : e64.
-
(2005)
PLoS Genet
, vol.1
, pp. 64
-
-
Vieira, A.R.1
Avila, J.R.2
Daack-Hirsch, S.3
Al, E.4
-
138
-
-
33847368959
-
Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis
-
Vieira AR, Modesto A, Meira R, Barbosa AR, Lidral AC, Murray JC (2007). Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis. Am J Med Genet A 143 : 538 545.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 538-545
-
-
Vieira, A.R.1
Modesto, A.2
Meira, R.3
Barbosa, A.R.4
Lidral, A.C.5
Murray, J.C.6
-
139
-
-
0037091009
-
Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways
-
Vitelli F, Morishima M, Taddei I, Lindsay EA, Baldini A (2002). Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum Mol Genet 11 : 915 922.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 915-922
-
-
Vitelli, F.1
Morishima, M.2
Taddei, I.3
Lindsay, E.A.4
Baldini, A.5
-
140
-
-
13444291335
-
BMP signaling in skeletal development
-
Wan M, Cao X (2005). BMP signaling in skeletal development. Biochem Biophys Res Commun 328 : 651 657.
-
(2005)
Biochem Biophys Res Commun
, vol.328
, pp. 651-657
-
-
Wan, M.1
Cao, X.2
-
141
-
-
33645814683
-
Expression profiles of cIRF6, cLHX6 and cLHX7 in the facial primordia suggest specific roles during primary palatogenesis
-
Washbourne BJ, Cox TC (2006). Expression profiles of cIRF6, cLHX6 and cLHX7 in the facial primordia suggest specific roles during primary palatogenesis. BMC Dev Biol 6 : 18.
-
(2006)
BMC Dev Biol
, vol.6
, pp. 18
-
-
Washbourne, B.J.1
Cox, T.C.2
-
142
-
-
33645637631
-
Parental craniofacial morphology in cleft lip with or without cleft palate as determined by cephalometry: A meta-analysis
-
Weinberg SM, Maher BS, Marazita ML (2006a). Parental craniofacial morphology in cleft lip with or without cleft palate as determined by cephalometry: a meta-analysis. Orthod Craniofac Res 9 : 18 30.
-
(2006)
Orthod Craniofac Res
, vol.9
, pp. 18-30
-
-
Weinberg, S.M.1
Maher, B.S.2
Marazita, M.L.3
-
143
-
-
32044438969
-
The Pittsburgh Oral-Facial Cleft study: Expanding the cleft phenotype. Background and justification
-
Weinberg SM, Neiswanger K, Martin RA et al (2006b). The Pittsburgh Oral-Facial Cleft study: expanding the cleft phenotype. Background and justification. Cleft Palate Craniofac J 43 : 7 20.
-
(2006)
Cleft Palate Craniofac J
, vol.43
, pp. 7-20
-
-
Weinberg, S.M.1
Neiswanger, K.2
Martin, R.A.3
Al, E.4
-
144
-
-
47149118873
-
Rethinking isolated cleft palate: Evidence of occult lip defects in a subset of cases
-
Weinberg SM, Brandon CA, McHenry TH et al (2008a). Rethinking isolated cleft palate: evidence of occult lip defects in a subset of cases. Am J Med Genet A 146A : 1670 1675.
-
(2008)
Am J Med Genet A
, vol.146
, pp. 1670-1675
-
-
Weinberg, S.M.1
Brandon, C.A.2
McHenry, T.H.3
Al, E.4
-
145
-
-
38849091429
-
Three-dimensional morphometric analysis of craniofacial shape in the unaffected relatives of individuals with nonsyndromic orofacial clefts: A possible marker for genetic susceptibility
-
Weinberg SM, Neiswanger K, Richtsmeier JT et al (2008b). Three-dimensional morphometric analysis of craniofacial shape in the unaffected relatives of individuals with nonsyndromic orofacial clefts: a possible marker for genetic susceptibility. Am J Med Genet A 146A : 409 420.
-
(2008)
Am J Med Genet A
, vol.146
, pp. 409-420
-
-
Weinberg, S.M.1
Neiswanger, K.2
Richtsmeier, J.T.3
Al, E.4
-
146
-
-
33746555937
-
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
-
Woods CG, Stricker S, Seemann P et al (2006). Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Hum Genet 79 : 402 408.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 402-408
-
-
Woods, C.G.1
Stricker, S.2
Seemann, P.3
Al, E.4
-
147
-
-
67349211156
-
Hand2 is required in the epithelium for palatogenesis in mice
-
(Epub ahead of print).
-
Xiong W, He F, Morikawa Y et al (2009). Hand2 is required in the epithelium for palatogenesis in mice. Dev Biol (Epub ahead of print).
-
(2009)
Dev Biol
-
-
Xiong, W.1
He, F.2
Morikawa, Y.3
Al, E.4
-
148
-
-
10744223651
-
Role of TBX1 in human del22q11.2 syndrome
-
Yagi H, Furutani Y, Hamada H et al (2003). Role of TBX1 in human del22q11.2 syndrome. Lancet 362 : 1366 1373.
-
(2003)
Lancet
, vol.362
, pp. 1366-1373
-
-
Yagi, H.1
Furutani, Y.2
Hamada, H.3
Al, E.4
-
149
-
-
0037349438
-
Targeted deletion of a branchial arch-specific enhancer reveals a role of dHAND in craniofacial development
-
Yanagisawa H, Clouthier DE, Richardson JA, Charite J, Olson EN (2003). Targeted deletion of a branchial arch-specific enhancer reveals a role of dHAND in craniofacial development. Development 130 : 1069 1078.
-
(2003)
Development
, vol.130
, pp. 1069-1078
-
-
Yanagisawa, H.1
Clouthier, D.E.2
Richardson, J.A.3
Charite, J.4
Olson, E.N.5
-
150
-
-
0033594485
-
P63 is essential for regenerative proliferation in limb, craniofacial and epithelial development
-
Yang A, Schweitzer R, Sun D et al (1999). p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature 398 : 714 718.
-
(1999)
Nature
, vol.398
, pp. 714-718
-
-
Yang, A.1
Schweitzer, R.2
Sun, D.3
Al, E.4
-
151
-
-
0036714198
-
Rescue of cleft palate in Msx1-deficient mice by transgenic Bmp4 reveals a network of BMP and Shh signaling in the regulation of mammalian palatogenesis
-
Zhang Z, Song Y, Zhao X, Zhang X, Fermin C, Chen Y (2002). Rescue of cleft palate in Msx1-deficient mice by transgenic Bmp4 reveals a network of BMP and Shh signaling in the regulation of mammalian palatogenesis. Development 129 : 4135 4146.
-
(2002)
Development
, vol.129
, pp. 4135-4146
-
-
Zhang, Z.1
Song, Y.2
Zhao, X.3
Zhang, X.4
Fermin, C.5
Chen, Y.6
-
152
-
-
0037183675
-
Do parents of children with congenital malformations have a higher cancer risk? A nationwide study in Denmark
-
Zhu JL, Basso O, Hasle H, Winther JF, Olsen JH, Olsen J (2002). Do parents of children with congenital malformations have a higher cancer risk? A nationwide study in Denmark. Br J Cancer 87 : 524 528.
-
(2002)
Br J Cancer
, vol.87
, pp. 524-528
-
-
Zhu, J.L.1
Basso, O.2
Hasle, H.3
Winther, J.F.4
Olsen, J.H.5
Olsen, J.6
-
153
-
-
4143115809
-
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate
-
Zucchero TM, Cooper ME, Maher BS et al (2004). Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351 : 769 780.
-
(2004)
N Engl J Med
, vol.351
, pp. 769-780
-
-
Zucchero, T.M.1
Cooper, M.E.2
Maher, B.S.3
Al, E.4
-
154
-
-
33847196100
-
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions
-
Zweier C, Sticht H, Aydin-Yaylagul I, Campbell CE, Rauch A (2007). Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet 80 : 510 517.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 510-517
-
-
Zweier, C.1
Sticht, H.2
Aydin-Yaylagul, I.3
Campbell, C.E.4
Rauch, A.5
|