-
1
-
-
77749307280
-
Oral-facial-digital syndrome type 1: Oral features in 12 patients submitted to clinical and radiographic examination
-
Tagliani MM, Gomide MR, Carrara CF. Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination. Cleft Palate Craniofac J 2010; 47: 162-166.
-
(2010)
Cleft Palate Craniofac J
, vol.47
, pp. 162-166
-
-
Tagliani, M.M.1
Gomide, M.R.2
Carrara, C.F.3
-
2
-
-
36448980591
-
Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I
-
Romero M, Franco B, del Pozo JS, Romance A. Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I. Cleft Palate Craniofac J 2007; 44: 660-666.
-
(2007)
Cleft Palate Craniofac J
, vol.44
, pp. 660-666
-
-
Romero, M.1
Franco, B.2
Del Pozo, J.S.3
Romance, A.4
-
3
-
-
30744451162
-
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: A French and Belgian collaborative study
-
Thauvin-Robinet C, Cossée M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, et al. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet 2006; 43: 54-61.
-
(2006)
J Med Genet
, vol.43
, pp. 54-61
-
-
Thauvin-Robinet, C.1
Cossée, M.2
Cormier-Daire, V.3
Van Maldergem, L.4
Toutain, A.5
Alembik, Y.6
-
4
-
-
0021253067
-
Oro-facio-digital syndromes I and II: Radiological methods for diagnosis and the clinical variations
-
Annerén G, Arvidson B, Gustavson KH, Jorulf H, Carlsson G. Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations. Clin Genet 1984; 26: 178-186.
-
(1984)
Clin Genet
, vol.26
, pp. 178-186
-
-
Annerén, G.1
Arvidson, B.2
Gustavson, K.H.3
Jorulf, H.4
Carlsson, G.5
-
5
-
-
0023110308
-
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease
-
Donnai D, Kerzin-Storrar L, Harris R. Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease. J Med Genet 1987; 24: 84-87.
-
(1987)
J Med Genet
, vol.24
, pp. 84-87
-
-
Donnai, D.1
Kerzin-Storrar, L.2
Harris, R.3
-
6
-
-
0032477710
-
Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: A review
-
Odent S, Le Marec B, Toutain A, David A, Vigneron J, Tréguier C, et al. Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. Am J Med Genet 1998; 75: 389-394.
-
(1998)
Am J Med Genet
, vol.75
, pp. 389-394
-
-
Odent, S.1
Le Marec, B.2
Toutain, A.3
David, A.4
Vigneron, J.5
Tréguier, C.6
-
7
-
-
0026036376
-
Variability of expression of the orofaciodigital syndrome type I in black females: Six cases
-
Salinas CF, Pai GS, Vera CL, Milutinovic J, Hagerty R, Cooper JD, et al. Variability of expression of the orofaciodigital syndrome type I in black females: six cases. Am J Med Genet 1991; 38: 574-582.
-
(1991)
Am J Med Genet
, vol.38
, pp. 574-582
-
-
Salinas, C.F.1
Pai, G.S.2
Vera, C.L.3
Milutinovic, J.4
Hagerty, R.5
Cooper, J.D.6
-
8
-
-
0036887158
-
Oral-facial-digital syndrome, Type I: A case report
-
King NM, Sanares AM. Oral-facial-digital syndrome, Type I: a case report. J Clin Pediatr Dent 2002; 26: 211-215.
-
(2002)
J Clin Pediatr Dent
, vol.26
, pp. 211-215
-
-
King, N.M.1
Sanares, A.M.2
-
9
-
-
0030972391
-
Classification of limb anomalies in oral-facial-digital syndromes
-
Al-Qattan MM, Hassanain JM. Classification of limb anomalies in oral-facial-digital syndromes. J Hand Surg Br 1997; 22: 250-252.
-
(1997)
J Hand Surg Br
, vol.22
, pp. 250-252
-
-
Al-Qattan, M.M.1
Hassanain, J.M.2
-
10
-
-
0032169637
-
Cone-shaped epiphyses in the toes and trifurcation of the soft palate in oral-facial-digital syndrome type-I
-
Al-Qattan MM. Cone-shaped epiphyses in the toes and trifurcation of the soft palate in oral-facial-digital syndrome type-I. Br J Plast Surg 1998; 51: 476-479.
-
(1998)
Br J Plast Surg
, vol.51
, pp. 476-479
-
-
Al-Qattan, M.M.1
-
11
-
-
0842285973
-
Variations in expression of oral-facial-digital syndrome (Type I): Report of two cases
-
Driva T, Franklin D, Crawford PJ. Variations in expression of oral-facial-digital syndrome (type I): report of two cases. Int J Pediatr Dent 2004; 14: 61-68.
-
(2004)
Int J Pediatr Dent
, vol.14
, pp. 61-68
-
-
Driva, T.1
Franklin, D.2
Crawford, P.J.3
-
12
-
-
0035097904
-
Identification of the gene for oral-facial-digital type I syndrome
-
Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, et al. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet 2001; 68: 569-576.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 569-576
-
-
Ferrante, M.I.1
Giorgio, G.2
Feather, S.A.3
Bulfone, A.4
Wright, V.5
Ghiani, M.6
-
13
-
-
77950591508
-
Ofd1, a human disease gene, regulates the length and distal structure of centrioles
-
Singla V, Romaguera-Ros M, Garcia-Verdugo JM, Reiter JF. Ofd1, a human disease gene, regulates the length and distal structure of centrioles. Dev Cell 2010; 18: 410-424.
-
(2010)
Dev Cell
, vol.18
, pp. 410-424
-
-
Singla, V.1
Romaguera-Ros, M.2
Garcia-Verdugo, J.M.3
Reiter, J.F.4
-
14
-
-
35848941930
-
Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex
-
Giorgio G, Alfieri M, Prattichizzo C, Zullo A, Cairo S, Franco B. Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex. Mol Biol Cell 2007; 18: 4397-4404.
-
(2007)
Mol Biol Cell
, vol.18
, pp. 4397-4404
-
-
Giorgio, G.1
Alfieri, M.2
Prattichizzo, C.3
Zullo, A.4
Cairo, S.5
Franco, B.6
-
15
-
-
77951101203
-
The primary cilium: A signalling centre during vertebrate development
-
Goetz SC, Anderson KV. The primary cilium: a signalling centre during vertebrate development. Nat Rev Genet 2010; 11: 331-344.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 331-344
-
-
Goetz, S.C.1
Erson, K.V.2
-
16
-
-
70449627625
-
Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies
-
Cardenas-Rodriguez M, Badano JL. Ciliary biology: understanding the cellular and genetic basis of human ciliopathies. Am J Med Genet C Semin Med Genet 2009; 151C: 263-280.
-
(2009)
Am J Med Genet C Semin Med Genet
, vol.151C
, pp. 263-280
-
-
Cardenas-Rodriguez, M.1
Badano, J.L.2
-
17
-
-
50649088457
-
Pattern formation in the vertebrate neural tube: A sonic hedgehog morphogen-regulated transcriptional network
-
Dessaud E, McMahon AP, Briscoe J. Pattern formation in the vertebrate neural tube: a sonic hedgehog morphogen-regulated transcriptional network. Development 2008; 135: 2489-2503.
-
(2008)
Development
, vol.135
, pp. 2489-2503
-
-
Dessaud, E.1
McMahon, A.P.2
Briscoe, J.3
-
18
-
-
0016769591
-
Cerebral abnormalities in the oral-facial-digital syndrome
-
Wood BP, Young LW, Townes PL. Cerebral abnormalities in the oral-facial-digital syndrome. Pediatr Radiol 1975; 3: 130-136.
-
(1975)
Pediatr Radiol
, vol.3
, pp. 130-136
-
-
Wood, B.P.1
Young, L.W.2
Townes, P.L.3
-
20
-
-
70350152726
-
Patched 1 is a crucial determinant of asymmetry and digit number in the vertebrate limb
-
Butterfield NC, Metzis V, Mc Glinn E, Bruce SJ, Wainwright BJ, Wicking C. Patched 1 is a crucial determinant of asymmetry and digit number in the vertebrate limb. Development 2009; 136: 3515-3524.
-
(2009)
Development
, vol.136
, pp. 3515-3524
-
-
Butterfield, N.C.1
Metzis, V.2
Mc Glinn, E.3
Bruce, S.J.4
Wainwright, B.J.5
Wicking, C.6
-
21
-
-
9844220298
-
Relationship between dose, distance and time in Sonic Hedgehog-mediated regulation of anteroposterior polarity in the chick limb
-
Yang Y, Drossopoulou G, Chuang PT, Duprez D, Marti E, Bumcrot D, et al. Relationship between dose, distance and time in Sonic Hedgehog-mediated regulation of anteroposterior polarity in the chick limb. Development 1997; 124: 4393-4404.
-
(1997)
Development
, vol.124
, pp. 4393-4404
-
-
Yang, Y.1
Drossopoulou, G.2
Chuang, P.T.3
Duprez, D.4
Marti, E.5
Bumcrot, D.6
-
22
-
-
79952824247
-
WNT pathways and upper limb anomalies
-
Al-Qattan MM. WNT pathways and upper limb anomalies. J Hand Surg Eur Vol 2011; 36: 9-22.
-
(2011)
J Hand Surg Eur Vol
, vol.36
, pp. 9-22
-
-
Al-Qattan, M.M.1
-
23
-
-
70450191821
-
A BMP-Shh negative-feedback loop restricts Shh expression during limb development
-
Bastida MF, Sheth R, Ros MA. A BMP-Shh negative-feedback loop restricts Shh expression during limb development. Development 2009; 136: 3779-3789.
-
(2009)
Development
, vol.136
, pp. 3779-3789
-
-
Bastida, M.F.1
Sheth, R.2
Ros, M.A.3
-
24
-
-
34547816223
-
The role of Hox genes during vertebrate limb development
-
Zakany J, Duboule D. The role of Hox genes during vertebrate limb development. Curr Opin Genet Dev 2007; 17: 359-366.
-
(2007)
Curr Opin Genet Dev
, vol.17
, pp. 359-366
-
-
Zakany, J.1
Duboule, D.2
-
26
-
-
29444439981
-
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification
-
Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, et al. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet 2006; 38: 112-117.
-
(2006)
Nat Genet
, vol.38
, pp. 112-117
-
-
Ferrante, M.I.1
Zullo, A.2
Barra, A.3
Bimonte, S.4
Messaddeq, N.5
Studer, M.6
-
27
-
-
0029750190
-
Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein
-
Vortkamp A, Lee K, Lanske B, Segre GV, Kronenberg HM, Tabin CJ. Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science 1996; 273: 613-622.
-
(1996)
Science
, vol.273
, pp. 613-622
-
-
Vortkamp, A.1
Lee, K.2
Lanske, B.3
Segre, G.V.4
Kronenberg, H.M.5
Tabin, C.J.6
-
28
-
-
0036744820
-
Interaction of FGF, Ihh/Pthlh, and BMP signaling integrates chondrocyte proliferation and hypertrophic differentiation
-
Minina E, Kreschel C, Naski MC, Ornitz DM, Vortkamp A. Interaction of FGF, Ihh/Pthlh, and BMP signaling integrates chondrocyte proliferation and hypertrophic differentiation. Dev Cell 2002; 3: 439-449.
-
(2002)
Dev Cell
, vol.3
, pp. 439-449
-
-
Minina, E.1
Kreschel, C.2
Naski, M.C.3
Ornitz, D.M.4
Vortkamp, A.5
-
29
-
-
34250838603
-
Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis
-
Koyama E, Young B, Nagayama M, Shibukawa Y, Enomoto-Iwamoto M, Iwamoto M, et al. Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis. Development 2007; 134: 2159-2169.
-
(2007)
Development
, vol.134
, pp. 2159-2169
-
-
Koyama, E.1
Young, B.2
Nagayama, M.3
Shibukawa, Y.4
Enomoto-Iwamoto, M.5
Iwamoto, M.6
-
30
-
-
70449646115
-
The dynamic cilium in human diseases
-
D’Angelo A, Franco B. The dynamic cilium in human diseases. Pathogenetics 2009; 2: 3.
-
(2009)
Pathogenetics
, vol.2
, pp. 3
-
-
D’Angelo, A.1
Franco, B.2
-
31
-
-
0033011669
-
Fetal polycystic kidney disease in oro-facio-digital syndrome type I
-
Nishimura G, Kuwashima S, Kohno T, Teramoto C, Watanabe H, Kubota T. Fetal polycystic kidney disease in oro-facio-digital syndrome type I. Pediatr Radiol 1999; 29: 506-508.
-
(1999)
Pediatr Radiol
, vol.29
, pp. 506-508
-
-
Nishimura, G.1
Kuwashima, S.2
Kohno, T.3
Teramoto, C.4
Watanabe, H.5
Kubota, T.6
-
32
-
-
0020326332
-
Cystic kidneys in a patient with oral-facial-digital syndrome type I
-
Stapleton FB, Bernstein J, Koh G, Roy S III, Wilroy RS. Cystic kidneys in a patient with oral-facial-digital syndrome type I. Am J Kidney Dis 1982; 1: 288-293.
-
(1982)
Am J Kidney Dis
, vol.1
, pp. 288-293
-
-
Stapleton, F.B.1
Bernstein, J.2
Koh, G.3
Roy, S.4
Wilroy, R.S.5
-
33
-
-
78349249765
-
Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I)
-
Chetty-John S, Piwnica-Worms K, Bryant J, Bernardini I, Fischer RE, Heller T, et al. Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I). Am J Med Genet A 2010; 152A: 2640-2645.
-
(2010)
Am J Med Genet A
, vol.152A
, pp. 2640-2645
-
-
Chetty-John, S.1
Piwnica-Worms, K.2
Bryant, J.3
Bernardini, I.4
Fischer, R.E.5
Heller, T.6
-
34
-
-
29444450890
-
Defective planar cell polarity in polycystic kidney disease
-
Fischer E, Legue E, Doyen A, Nato F, Nicolas JF, Torres V, et al. Defective planar cell polarity in polycystic kidney disease. Nat Genet 2006; 38: 21-23.
-
(2006)
Nat Genet
, vol.38
, pp. 21-23
-
-
Fischer, E.1
Legue, E.2
Doyen, A.3
Nato, F.4
Nicolas, J.F.5
Torres, V.6
-
35
-
-
33747838464
-
Polycystic kidney disease: Cell division without a c(l)ue?
-
Simons M, Walz G. Polycystic kidney disease: cell division without a c(l)ue? Kidney Int 2006; 70: 854-864.
-
(2006)
Kidney Int
, vol.70
, pp. 854-864
-
-
Simons, M.1
Walz, G.2
-
36
-
-
58849164887
-
Cystic kidney diseases and planar cell polarity signaling
-
Bacallao RL, McNeill H, Cystic kidney diseases and planar cell polarity signaling. Clin Genet 2009; 75: 107-117.
-
(2009)
Clin Genet
, vol.75
, pp. 107-117
-
-
Bacallao, R.L.1
McNeill, H.2
-
37
-
-
58449116458
-
An essential role for dermal primary cilia in hair follicle morphogenesis
-
Lehman JM, Laag E, Michaud EJ, Yoder BK. An essential role for dermal primary cilia in hair follicle morphogenesis. J Invest Dermatol 2009; 129: 438-448.
-
(2009)
J Invest Dermatol
, vol.129
, pp. 438-448
-
-
Lehman, J.M.1
Laag, E.2
Michaud, E.J.3
Yoder, B.K.4
-
38
-
-
0029058135
-
The pathogenesis of familial multiple cylindromas, trichoepitheliomas, milia and spiradenomas
-
van der Putte SC. The pathogenesis of familial multiple cylindromas, trichoepitheliomas, milia and spiradenomas. Am J Dermatopathol 1995; 17: 271-280.
-
(1995)
Am J Dermatopathol
, vol.17
, pp. 271-280
-
-
Van Der Putte, S.C.1
-
39
-
-
63049116544
-
The vertebrate primary cilium in development, homeostasis, and disease
-
Gerdes JM, Davis EE, Katsanis N. The vertebrate primary cilium in development, homeostasis, and disease. Cell 2009; 137: 32-45.
-
(2009)
Cell
, vol.137
, pp. 32-45
-
-
Gerdes, J.M.1
Davis, E.E.2
Katsanis, N.3
-
40
-
-
78650843442
-
Ofd1 is required in limb bud patterning and endochondral bone development
-
Bimonte S, De Angelis A, Quagliata L, Giusti F, Tammaro R, Dallai R, et al. Ofd1 is required in limb bud patterning and endochondral bone development. Dev Biol 2011; 349: 179-191.
-
(2011)
Dev Biol
, vol.349
, pp. 179-191
-
-
Bimonte, S.1
De Angelis, A.2
Quagliata, L.3
Giusti, F.4
Tammaro, R.5
Dallai, R.6
-
41
-
-
79955783526
-
The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells
-
Hunkapiller J, Singla V, Seol A, Reiter JF. The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells. Stem Cells Dev 2011; 20: 831-841.
-
(2011)
Stem Cells Dev
, vol.20
, pp. 831-841
-
-
Hunkapiller, J.1
Singla, V.2
Seol, A.3
Reiter, J.F.4
-
42
-
-
34548406546
-
Kinesin-2 controls development and patterning of the vertebrate skeleton by Hedgehog- and Gli3-dependent mechanisms
-
Kolpakova-Hart E, Jinnin M, Hou B, Fukai N, Olsen BR. Kinesin-2 controls development and patterning of the vertebrate skeleton by Hedgehog- and Gli3-dependent mechanisms. Dev Biol 2007; 309: 273-284.
-
(2007)
Dev Biol
, vol.309
, pp. 273-284
-
-
Kolpakova-Hart, E.1
Jinnin, M.2
Hou, B.3
Fukai, N.4
Olsen, B.R.5
|