-
1
-
-
0030307290
-
Syndromes, syndromes, and more syndromes
-
Gorlin R.J. Syndromes, syndromes, and more syndromes. J Dent Res 1996, 75:732-735.
-
(1996)
J Dent Res
, vol.75
, pp. 732-735
-
-
Gorlin, R.J.1
-
2
-
-
0031944805
-
Holoprosencephaly: from Homer to Hedgehog
-
Ming J.E., Muenke M. Holoprosencephaly: from Homer to Hedgehog. Clin Genet 1998, 53:155-163.
-
(1998)
Clin Genet
, vol.53
, pp. 155-163
-
-
Ming, J.E.1
Muenke, M.2
-
3
-
-
0034107360
-
Genetics of ventral forebrain development and holoprosencephaly
-
Muenke M., Beachy P.A. Genetics of ventral forebrain development and holoprosencephaly. Curr Opin Genet Dev 2000, 10:262-269.
-
(2000)
Curr Opin Genet Dev
, vol.10
, pp. 262-269
-
-
Muenke, M.1
Beachy, P.A.2
-
4
-
-
84883840171
-
The face predicts the brain: diagnostic significance of median facial anomialies for holoprosencephaly (arhinencephay)
-
August
-
DeMyer W. The face predicts the brain: diagnostic significance of median facial anomialies for holoprosencephaly (arhinencephay). Pediatrics 1964, (August):256-263.
-
(1964)
Pediatrics
, pp. 256-263
-
-
DeMyer, W.1
-
5
-
-
4344646698
-
Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes
-
Cordero D., Marcucio R., Hu D., Gaffield W., Tapadia M., Helms J.A. Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes. J Clin Invest 2004, 114:485-494.
-
(2004)
J Clin Invest
, vol.114
, pp. 485-494
-
-
Cordero, D.1
Marcucio, R.2
Hu, D.3
Gaffield, W.4
Tapadia, M.5
Helms, J.A.6
-
6
-
-
23244451065
-
Molecular interactions coordinating the development of the forebrain and face
-
Marcucio R.S., Cordero D.R., Hu D., Helms J.A. Molecular interactions coordinating the development of the forebrain and face. Dev Biol 2005, 284:48-61.
-
(2005)
Dev Biol
, vol.284
, pp. 48-61
-
-
Marcucio, R.S.1
Cordero, D.R.2
Hu, D.3
Helms, J.A.4
-
7
-
-
0034921830
-
Local retinoid signaling coordinates forebrain and facial morphogenesis by maintaining FGF8 and SHH
-
Schneider R.A., Hu D., Rubenstein J.L., Maden M., Helms J.A. Local retinoid signaling coordinates forebrain and facial morphogenesis by maintaining FGF8 and SHH. Development 2001, 128:2755-2767.
-
(2001)
Development
, vol.128
, pp. 2755-2767
-
-
Schneider, R.A.1
Hu, D.2
Rubenstein, J.L.3
Maden, M.4
Helms, J.A.5
-
8
-
-
0042676692
-
Morphogenesis of the face
-
W. B. Saunders Company, Philadelphia, K.Y. Lin, R.C. Ogle, J.A. Jane (Eds.)
-
Cordero D.R., Schneider R.A., Helms J.A. Morphogenesis of the face. Craniofacial surgery: science & surgical technique 2002, 75-83. W. B. Saunders Company, Philadelphia. K.Y. Lin, R.C. Ogle, J.A. Jane (Eds.).
-
(2002)
Craniofacial surgery: science & surgical technique
, pp. 75-83
-
-
Cordero, D.R.1
Schneider, R.A.2
Helms, J.A.3
-
9
-
-
0016746976
-
Mesenchymal derivatives of the neural crest: analysis of chimaeric quail and chick embryos
-
Lièvre C.S.L., Douarin N.M.L. Mesenchymal derivatives of the neural crest: analysis of chimaeric quail and chick embryos. J Embryol Exp Morphol 1975, 34:125-154.
-
(1975)
J Embryol Exp Morphol
, vol.34
, pp. 125-154
-
-
Lièvre, C.S.L.1
Douarin, N.M.L.2
-
10
-
-
0023687125
-
The fate map of the cephalic neural primordium at the presomitic to the 3-somite stage in the avian embryo
-
Couly G., Douarin N.M.L. The fate map of the cephalic neural primordium at the presomitic to the 3-somite stage in the avian embryo. Development 1988, 103:101-113.
-
(1988)
Development
, vol.103
, pp. 101-113
-
-
Couly, G.1
Douarin, N.M.L.2
-
11
-
-
0027415509
-
The triple origin of skull in higher vertebrates: a study in quail-chick chimeras
-
Couly G.F., Coltey P.M., Le Douarin N.M. The triple origin of skull in higher vertebrates: a study in quail-chick chimeras. Development 1993, 117:409-429.
-
(1993)
Development
, vol.117
, pp. 409-429
-
-
Couly, G.F.1
Coltey, P.M.2
Le Douarin, N.M.3
-
12
-
-
0026530822
-
The developmental fate of the cephalic mesoderm in quail-chick chimeras
-
Couly G.F., Coltey P.M., Le Douarin N.M. The developmental fate of the cephalic mesoderm in quail-chick chimeras. Development 1992, 114:1-15.
-
(1992)
Development
, vol.114
, pp. 1-15
-
-
Couly, G.F.1
Coltey, P.M.2
Le Douarin, N.M.3
-
13
-
-
0035038659
-
The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain
-
Etchevers H.C., Vincent C., Le Douarin N.M., Couly G.F. The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain. Development 2001, 128:1059-1068.
-
(2001)
Development
, vol.128
, pp. 1059-1068
-
-
Etchevers, H.C.1
Vincent, C.2
Le Douarin, N.M.3
Couly, G.F.4
-
14
-
-
77952311364
-
A primary cilia-dependent etiology for midline facial disorders
-
Brugmann S.A., Allen N.C., James A.W., Mekonnen Z., Madan E., Helms J.A. A primary cilia-dependent etiology for midline facial disorders. Hum Mol Genet 2010, 19:1577-1592.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1577-1592
-
-
Brugmann, S.A.1
Allen, N.C.2
James, A.W.3
Mekonnen, Z.4
Madan, E.5
Helms, J.A.6
-
15
-
-
43749100517
-
Shaping up and shipping out: the role of cilia in growth and patterning
-
Brugmann S., Helms J. Shaping up and shipping out: the role of cilia in growth and patterning. J Musculoskelet Neuronal Interact 2007, 7:300.
-
(2007)
J Musculoskelet Neuronal Interact
, vol.7
, pp. 300
-
-
Brugmann, S.1
Helms, J.2
-
17
-
-
0037227766
-
The vertebrate primary cilium is a sensory organelle
-
Pazour G.J., Witman G.B. The vertebrate primary cilium is a sensory organelle. Curr Opin Cell Biol 2003, 15:105-110.
-
(2003)
Curr Opin Cell Biol
, vol.15
, pp. 105-110
-
-
Pazour, G.J.1
Witman, G.B.2
-
18
-
-
38349000827
-
Intraflagellar transport motors in cilia: moving along the cell's antenna
-
Scholey J.M. Intraflagellar transport motors in cilia: moving along the cell's antenna. J Cell Biol 2008, 180:23-29.
-
(2008)
J Cell Biol
, vol.180
, pp. 23-29
-
-
Scholey, J.M.1
-
19
-
-
34547110771
-
Patched1 regulates hedgehog signaling at the primary cilium
-
Rohatgi R., Milenkovic L., Scott M.P. Patched1 regulates hedgehog signaling at the primary cilium. Science 2007, 317:372-376.
-
(2007)
Science
, vol.317
, pp. 372-376
-
-
Rohatgi, R.1
Milenkovic, L.2
Scott, M.P.3
-
20
-
-
34548306769
-
Patching the gaps in Hedgehog signalling
-
Rohatgi R., Scott M.P. Patching the gaps in Hedgehog signalling. Nat Cell Biol 2007, 9:1005-1009.
-
(2007)
Nat Cell Biol
, vol.9
, pp. 1005-1009
-
-
Rohatgi, R.1
Scott, M.P.2
-
21
-
-
84867678037
-
A smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia
-
Dorn K.V., Hughes C.E., Rohatgi R. A smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia. Dev Cell 2012, 23:823-835.
-
(2012)
Dev Cell
, vol.23
, pp. 823-835
-
-
Dorn, K.V.1
Hughes, C.E.2
Rohatgi, R.3
-
22
-
-
84888433372
-
Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis
-
Basten S.G., Giles R.H. Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis. Cilia 2013, 2:6.
-
(2013)
Cilia
, vol.2
, pp. 6
-
-
Basten, S.G.1
Giles, R.H.2
-
23
-
-
0345255945
-
Intraflagellar transport
-
Scholey J.M. Intraflagellar transport. Annu Rev Cell Dev Biol 2003, 19:423-443.
-
(2003)
Annu Rev Cell Dev Biol
, vol.19
, pp. 423-443
-
-
Scholey, J.M.1
-
26
-
-
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
-
27
-
-
84879004103
-
Kif3a is necessary for initiation and maintenance of medulloblastoma
-
Barakat M.T., Humke E.W., Scott M.P. Kif3a is necessary for initiation and maintenance of medulloblastoma. Carcinogenesis 2013, 34:1382-1392.
-
(2013)
Carcinogenesis
, vol.34
, pp. 1382-1392
-
-
Barakat, M.T.1
Humke, E.W.2
Scott, M.P.3
-
29
-
-
68649098302
-
The primary cilium as a cellular signaling center: lessons from disease
-
Lancaster M.A., Gleeson J.G. The primary cilium as a cellular signaling center: lessons from disease. Curr Opin Genet Dev 2009, 19:220-229.
-
(2009)
Curr Opin Genet Dev
, vol.19
, pp. 220-229
-
-
Lancaster, M.A.1
Gleeson, J.G.2
-
30
-
-
79551587194
-
Strange as it may seem: the many links between Wnt signaling, planar cell polarity, and cilia
-
Wallingford J.B., Mitchell B. Strange as it may seem: the many links between Wnt signaling, planar cell polarity, and cilia. Genes Dev 2011, 25:201-213.
-
(2011)
Genes Dev
, vol.25
, pp. 201-213
-
-
Wallingford, J.B.1
Mitchell, B.2
-
31
-
-
0032428685
-
Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein
-
Nonaka S., Tanaka Y., Okada Y., Takeda S., Harada A., Kanai Y., et al. Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell 1998, 95:829-837.
-
(1998)
Cell
, vol.95
, pp. 829-837
-
-
Nonaka, S.1
Tanaka, Y.2
Okada, Y.3
Takeda, S.4
Harada, A.5
Kanai, Y.6
-
32
-
-
58749105340
-
Modeling ciliopathies: primary cilia in development and disease
-
Quinlan R.J., Tobin J.L., Beales P.L. Modeling ciliopathies: primary cilia in development and disease. Curr Top Dev Biol 2008, 84:249-310.
-
(2008)
Curr Top Dev Biol
, vol.84
, pp. 249-310
-
-
Quinlan, R.J.1
Tobin, J.L.2
Beales, P.L.3
-
33
-
-
44349147745
-
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome
-
Tobin J.L., Di Franco M., Eichers E., May-Simera H., Garcia M., Yan J., et al. Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proc Natl Acad Sci U S A 2008, 105:6714-6719.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 6714-6719
-
-
Tobin, J.L.1
Di Franco, M.2
Eichers, E.3
May-Simera, H.4
Garcia, M.5
Yan, J.6
-
35
-
-
35548979389
-
Wnt signaling mediates regional specification in the vertebrate face
-
Brugmann S.A., Goodnough L.H., Gregorieff A., Leucht P., ten Berge D., Fuerer C., et al. Wnt signaling mediates regional specification in the vertebrate face. Development 2007, 134:3283-3295.
-
(2007)
Development
, vol.134
, pp. 3283-3295
-
-
Brugmann, S.A.1
Goodnough, L.H.2
Gregorieff, A.3
Leucht, P.4
ten Berge, D.5
Fuerer, C.6
-
36
-
-
0019126423
-
Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S
-
McLeod M.J. Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S. Teratology 1980, 22:299-301.
-
(1980)
Teratology
, vol.22
, pp. 299-301
-
-
McLeod, M.J.1
-
37
-
-
82655189981
-
Arl13b regulates ciliogenesis and the dynamic localization of Shh signaling proteins
-
Larkins C.E., Aviles G.D., East M.P., Kahn R.A., Caspary T. Arl13b regulates ciliogenesis and the dynamic localization of Shh signaling proteins. Mol Biol Cell 2011, 22:4694-4703.
-
(2011)
Mol Biol Cell
, vol.22
, pp. 4694-4703
-
-
Larkins, C.E.1
Aviles, G.D.2
East, M.P.3
Kahn, R.A.4
Caspary, T.5
-
38
-
-
76649103368
-
The perennial organelle: assembly and disassembly of the primary cilium
-
Seeley E.S., Nachury M.V. The perennial organelle: assembly and disassembly of the primary cilium. J Cell Sci 2010, 123:511-518.
-
(2010)
J Cell Sci
, vol.123
, pp. 511-518
-
-
Seeley, E.S.1
Nachury, M.V.2
-
39
-
-
52049104473
-
Primary cilia: cellular sensors for the skeleton
-
Anderson C.T., Castillo A.B., Brugmann S.A., Helms J.A., Jacobs C.R., Stearns T. Primary cilia: cellular sensors for the skeleton. Anat Rec (Hoboken) 2008, 291:1074-1078.
-
(2008)
Anat Rec (Hoboken)
, vol.291
, pp. 1074-1078
-
-
Anderson, C.T.1
Castillo, A.B.2
Brugmann, S.A.3
Helms, J.A.4
Jacobs, C.R.5
Stearns, T.6
-
40
-
-
78649649129
-
Craniofacial ciliopathies: a new classification for craniofacial disorders
-
Brugmann S.A., Cordero D.R., Helms J.A. Craniofacial ciliopathies: a new classification for craniofacial disorders. Am J Med Genet A 2010, 152A:2995-3006.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 2995-3006
-
-
Brugmann, S.A.1
Cordero, D.R.2
Helms, J.A.3
-
41
-
-
84858052792
-
Mechanosensing by the primary cilium: deletion of Kif3A reduces bone formation due to loading
-
Temiyasathit S., Tang W.J., Leucht P., Anderson C.T., Monica S.D., Castillo A.B., et al. Mechanosensing by the primary cilium: deletion of Kif3A reduces bone formation due to loading. PLoS ONE 2012, 7:e33368.
-
(2012)
PLoS ONE
, vol.7
-
-
Temiyasathit, S.1
Tang, W.J.2
Leucht, P.3
Anderson, C.T.4
Monica, S.D.5
Castillo, A.B.6
-
42
-
-
84875328554
-
The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling
-
Khonsari R.H., Seppala M., Pradel A., Dutel H., Clement G., Lebedev O., et al. The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling. BMC Biol 2013, 11:27.
-
(2013)
BMC Biol
, vol.11
, pp. 27
-
-
Khonsari, R.H.1
Seppala, M.2
Pradel, A.3
Dutel, H.4
Clement, G.5
Lebedev, O.6
-
43
-
-
84874518190
-
Primary cilia act as mechanosensors during bone healing around an implant
-
Leucht P., Monica S.D., Temiyasathit S., Lenton K., Manu A., Longaker M.T., et al. Primary cilia act as mechanosensors during bone healing around an implant. Med Eng Phys 2013, 35:392-402.
-
(2013)
Med Eng Phys
, vol.35
, pp. 392-402
-
-
Leucht, P.1
Monica, S.D.2
Temiyasathit, S.3
Lenton, K.4
Manu, A.5
Longaker, M.T.6
-
44
-
-
84898971434
-
Primary cilia integrate Hedgehog and Wnt signaling during tooth development
-
Liu B., Chen S., Cheng D., Jing W., Helms J.A. Primary cilia integrate Hedgehog and Wnt signaling during tooth development. J Dent Research 2014, 93:475-482.
-
(2014)
J Dent Research
, vol.93
, pp. 475-482
-
-
Liu, B.1
Chen, S.2
Cheng, D.3
Jing, W.4
Helms, J.A.5
-
46
-
-
0034057170
-
Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis
-
Chai Y., Jiang X., Ito Y., Bringas P., Han J., Rowitch D.H., et al. Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis. Development 2000, 127:1671-1679.
-
(2000)
Development
, vol.127
, pp. 1671-1679
-
-
Chai, Y.1
Jiang, X.2
Ito, Y.3
Bringas, P.4
Han, J.5
Rowitch, D.H.6
-
47
-
-
0028093078
-
Cis-acting regulatory sequences governing Wnt-1 expression in the developing mouse CNS
-
Echelard Y., Vassileva G., McMahon A.P. Cis-acting regulatory sequences governing Wnt-1 expression in the developing mouse CNS. Development 1994, 120:2213-2224.
-
(1994)
Development
, vol.120
, pp. 2213-2224
-
-
Echelard, Y.1
Vassileva, G.2
McMahon, A.P.3
-
48
-
-
0025696476
-
Expression of multiple novel Wnt-1/int-1-related genes during fetal and adult mouse development
-
Gavin B.J., McMahon J.A., McMahon A.P. Expression of multiple novel Wnt-1/int-1-related genes during fetal and adult mouse development. Genes Dev 1990, 4:2319-2332.
-
(1990)
Genes Dev
, vol.4
, pp. 2319-2332
-
-
Gavin, B.J.1
McMahon, J.A.2
McMahon, A.P.3
-
49
-
-
0035034603
-
Inactivation of the beta-catenin gene by Wnt1-Cre-mediated deletion results in dramatic brain malformation and failure of craniofacial development
-
Brault V., Moore R., Kutsch S., Ishibashi M., Rowitch D.H., McMahon A.P., et al. Inactivation of the beta-catenin gene by Wnt1-Cre-mediated deletion results in dramatic brain malformation and failure of craniofacial development. Development 2001, 128:1253-1264.
-
(2001)
Development
, vol.128
, pp. 1253-1264
-
-
Brault, V.1
Moore, R.2
Kutsch, S.3
Ishibashi, M.4
Rowitch, D.H.5
McMahon, A.P.6
-
51
-
-
0017290298
-
The physics of the cranial cavity, hydrocephalus and normal pressure hydrocephalus: mechanical interpretation and mathematical model
-
Hakim S., Venegas J.G., Burton J.D. The physics of the cranial cavity, hydrocephalus and normal pressure hydrocephalus: mechanical interpretation and mathematical model. Surg Neurol 1976, 5:187-210.
-
(1976)
Surg Neurol
, vol.5
, pp. 187-210
-
-
Hakim, S.1
Venegas, J.G.2
Burton, J.D.3
-
52
-
-
0027441324
-
Evaluation of proliferating cell nuclear antigen (PCNA) as an endogenous marker of cell proliferation in rat liver: a dual-stain comparison with 5-bromo-2'-deoxyuridine
-
Connolly K.M., Bogdanffy M.S. Evaluation of proliferating cell nuclear antigen (PCNA) as an endogenous marker of cell proliferation in rat liver: a dual-stain comparison with 5-bromo-2'-deoxyuridine. J Histochem Cytochem 1993, 41:1-6.
-
(1993)
J Histochem Cytochem
, vol.41
, pp. 1-6
-
-
Connolly, K.M.1
Bogdanffy, M.S.2
-
53
-
-
0002637733
-
Treatment of hydrocephalus: an historical and critical review of methods and results
-
Scarff J.E. Treatment of hydrocephalus: an historical and critical review of methods and results. J Neurol Neurosurg Psychiatry 1963, 26:1-26.
-
(1963)
J Neurol Neurosurg Psychiatry
, vol.26
, pp. 1-26
-
-
Scarff, J.E.1
-
54
-
-
12144262775
-
Adult ependymal cells are postmitotic and are derived from radial glial cells during embryogenesis
-
Spassky N., Merkle F.T., Flames N., Tramontin A.D., Garcia-Verdugo J.M., Alvarez-Buylla A. Adult ependymal cells are postmitotic and are derived from radial glial cells during embryogenesis. J Neurosci 2005, 25:10-18.
-
(2005)
J Neurosci
, vol.25
, pp. 10-18
-
-
Spassky, N.1
Merkle, F.T.2
Flames, N.3
Tramontin, A.D.4
Garcia-Verdugo, J.M.5
Alvarez-Buylla, A.6
-
55
-
-
84887067817
-
The choroid plexus and cerebrospinal fluid: emerging roles in development, disease, and therapy
-
Lehtinen M.K., Bjornsson C.S., Dymecki S.M., Gilbertson R.J., Holtzman D.M., Monuki E.S. The choroid plexus and cerebrospinal fluid: emerging roles in development, disease, and therapy. J Neurosci 2013, 33:17553-17559.
-
(2013)
J Neurosci
, vol.33
, pp. 17553-17559
-
-
Lehtinen, M.K.1
Bjornsson, C.S.2
Dymecki, S.M.3
Gilbertson, R.J.4
Holtzman, D.M.5
Monuki, E.S.6
-
56
-
-
79960661515
-
Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)
-
Keppler-Noreuil K.M., Blumhorst C., Sapp J.C., Brinckman D., Johnston J., Nopoulos P.C., et al. Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS). BMC Med Genet 2011, 12:101.
-
(2011)
BMC Med Genet
, vol.12
, pp. 101
-
-
Keppler-Noreuil, K.M.1
Blumhorst, C.2
Sapp, J.C.3
Brinckman, D.4
Johnston, J.5
Nopoulos, P.C.6
-
57
-
-
37649020306
-
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity
-
Davis R.E., Swiderski R.E., Rahmouni K., Nishimura D.Y., Mullins R.F., Agassandian K., et al. A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A 2007, 104:19422-19427.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 19422-19427
-
-
Davis, R.E.1
Swiderski, R.E.2
Rahmouni, K.3
Nishimura, D.Y.4
Mullins, R.F.5
Agassandian, K.6
-
58
-
-
84864622995
-
Primary cilia and Gli3 activity regulate cerebral cortical size
-
Wilson S.L., Wilson J.P., Wang C., Wang B., McConnell S.K. Primary cilia and Gli3 activity regulate cerebral cortical size. Dev Neurobiol 2012, 72:1196-1212.
-
(2012)
Dev Neurobiol
, vol.72
, pp. 1196-1212
-
-
Wilson, S.L.1
Wilson, J.P.2
Wang, C.3
Wang, B.4
McConnell, S.K.5
-
59
-
-
0142104970
-
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
-
Ansley S.J., Badano J.L., Blacque O.E., Hill J., Hoskins B.E., Leitch C.C., et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 2003, 425:628-633.
-
(2003)
Nature
, vol.425
, pp. 628-633
-
-
Ansley, S.J.1
Badano, J.L.2
Blacque, O.E.3
Hill, J.4
Hoskins, B.E.5
Leitch, C.C.6
-
60
-
-
1442274810
-
Establishing a connection between cilia and Bardet-Biedl Syndrome
-
Mykytyn K., Sheffield V.C. Establishing a connection between cilia and Bardet-Biedl Syndrome. Trends Mol Med 2004, 10:106-109.
-
(2004)
Trends Mol Med
, vol.10
, pp. 106-109
-
-
Mykytyn, K.1
Sheffield, V.C.2
-
61
-
-
33749054088
-
Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport
-
Blacque O.E., Leroux M.R. Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Cell Mol Life Sci 2006, 63:2145-2161.
-
(2006)
Cell Mol Life Sci
, vol.63
, pp. 2145-2161
-
-
Blacque, O.E.1
Leroux, M.R.2
-
62
-
-
65649147891
-
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
-
Zaghloul N.A., Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest 2009, 119:428-437.
-
(2009)
J Clin Invest
, vol.119
, pp. 428-437
-
-
Zaghloul, N.A.1
Katsanis, N.2
-
63
-
-
0034002459
-
Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for Twist in suture initiation and biogenesis
-
Johnson D., Iseki S., Wilkie A.O.M., Morriss-Kay G.M. Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for Twist in suture initiation and biogenesis. Mech Dev 2000, 91:341-345.
-
(2000)
Mech Dev
, vol.91
, pp. 341-345
-
-
Johnson, D.1
Iseki, S.2
Wilkie, A.O.M.3
Morriss-Kay, G.M.4
-
64
-
-
2442484615
-
Mechanisms of murine cranial suture patency mediated by a dominant negative transforming growth factor-beta receptor adenovirus
-
Song H.M., Fong K.D., Nacamuli R.P., Warren S.M., Fang T.D., Mathy J.A., et al. Mechanisms of murine cranial suture patency mediated by a dominant negative transforming growth factor-beta receptor adenovirus. Plast Reconstr Surg 2004, 113:1685-1697.
-
(2004)
Plast Reconstr Surg
, vol.113
, pp. 1685-1697
-
-
Song, H.M.1
Fong, K.D.2
Nacamuli, R.P.3
Warren, S.M.4
Fang, T.D.5
Mathy, J.A.6
-
65
-
-
35748968230
-
Cell fate specification during calvarial bone and suture development
-
Lana-Elola E., Rice R., Grigoriadis A.E., Rice D.P. Cell fate specification during calvarial bone and suture development. Dev Biol 2007, 311:335-346.
-
(2007)
Dev Biol
, vol.311
, pp. 335-346
-
-
Lana-Elola, E.1
Rice, R.2
Grigoriadis, A.E.3
Rice, D.P.4
-
66
-
-
57749107632
-
The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation
-
Yoon W.J., Cho Y.D., Cho K.H., Woo K.M., Baek J.H., Cho J.Y., et al. The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation. J Biol Chem 2008, 283:32751-32761.
-
(2008)
J Biol Chem
, vol.283
, pp. 32751-32761
-
-
Yoon, W.J.1
Cho, Y.D.2
Cho, K.H.3
Woo, K.M.4
Baek, J.H.5
Cho, J.Y.6
-
67
-
-
18844362603
-
The role of Axin2 in calvarial morphogenesis and craniosynostosis
-
Yu H.M., Jerchow B., Sheu T.J., Liu B., Costantini F., Puzas J.E., et al. The role of Axin2 in calvarial morphogenesis and craniosynostosis. Development 2005, 132:1995-2005.
-
(2005)
Development
, vol.132
, pp. 1995-2005
-
-
Yu, H.M.1
Jerchow, B.2
Sheu, T.J.3
Liu, B.4
Costantini, F.5
Puzas, J.E.6
-
68
-
-
0030769180
-
Craniosynostosis: genes and mechanisms
-
Wilkie A.O. Craniosynostosis: genes and mechanisms. Hum Mol Genet 1997, 6:1647-1656.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1647-1656
-
-
Wilkie, A.O.1
-
69
-
-
84859812669
-
A cross-species analysis of microRNAs in the developing avian face
-
Powder K.E., Ku Y.C., Brugmann S.A., Veile R.A., Renaud N.A., Helms J.A., et al. A cross-species analysis of microRNAs in the developing avian face. PLoS ONE 2012, 7:e35111.
-
(2012)
PLoS ONE
, vol.7
-
-
Powder, K.E.1
Ku, Y.C.2
Brugmann, S.A.3
Veile, R.A.4
Renaud, N.A.5
Helms, J.A.6
-
70
-
-
84878832554
-
The widely used Wnt1-Cre transgene causes developmental phenotypes by ectopic activation of Wnt signaling
-
Lewis A.E., Vasudevan H.N., O'Neill A.K., Soriano P., Bush J.O. The widely used Wnt1-Cre transgene causes developmental phenotypes by ectopic activation of Wnt signaling. Dev Biol 2013, 379:229-234.
-
(2013)
Dev Biol
, vol.379
, pp. 229-234
-
-
Lewis, A.E.1
Vasudevan, H.N.2
O'Neill, A.K.3
Soriano, P.4
Bush, J.O.5
-
71
-
-
0032718124
-
Multiple roles for activated LEF/TCF transcription complexes during hair follicle development and differentiation
-
DasGupta R., Fuchs E. Multiple roles for activated LEF/TCF transcription complexes during hair follicle development and differentiation. Development 1999, 126:4557-4568.
-
(1999)
Development
, vol.126
, pp. 4557-4568
-
-
DasGupta, R.1
Fuchs, E.2
-
72
-
-
0037157837
-
A developmental conundrum: a stabilized form of beta-catenin lacking the transcriptional activation domain triggers features of hair cell fate in epidermal cells and epidermal cell fate in hair follicle cells
-
DasGupta R., Rhee H., Fuchs E. A developmental conundrum: a stabilized form of beta-catenin lacking the transcriptional activation domain triggers features of hair cell fate in epidermal cells and epidermal cell fate in hair follicle cells. J Cell Biol 2002, 158:331-344.
-
(2002)
J Cell Biol
, vol.158
, pp. 331-344
-
-
DasGupta, R.1
Rhee, H.2
Fuchs, E.3
-
73
-
-
10944266528
-
Global inhibition of Lef1/Tcf-dependent Wnt signaling at its nuclear end point abrogates development in transgenic Xenopus embryos
-
Deroo T., Denayer T., Van Roy F., Vleminckx K. Global inhibition of Lef1/Tcf-dependent Wnt signaling at its nuclear end point abrogates development in transgenic Xenopus embryos. J Biol Chem 2004, 279:50670-50675.
-
(2004)
J Biol Chem
, vol.279
, pp. 50670-50675
-
-
Deroo, T.1
Denayer, T.2
Van Roy, F.3
Vleminckx, K.4
-
75
-
-
0038485600
-
Lymphoid enhancer factor-1 and beta-catenin inhibit Runx2-dependent transcriptional activation of the osteocalcin promoter
-
Kahler R.A., Westendorf J.J. Lymphoid enhancer factor-1 and beta-catenin inhibit Runx2-dependent transcriptional activation of the osteocalcin promoter. J Biol Chem 2003, 278:11937-11944.
-
(2003)
J Biol Chem
, vol.278
, pp. 11937-11944
-
-
Kahler, R.A.1
Westendorf, J.J.2
-
76
-
-
0035395874
-
Tcf3 and Lef1 regulate lineage differentiation of multipotent stem cells in skin
-
Merrill B.J., Gat U., DasGupta R., Fuchs E. Tcf3 and Lef1 regulate lineage differentiation of multipotent stem cells in skin. Genes Dev 2001, 15:1688-1705.
-
(2001)
Genes Dev
, vol.15
, pp. 1688-1705
-
-
Merrill, B.J.1
Gat, U.2
DasGupta, R.3
Fuchs, E.4
-
77
-
-
0026331135
-
Gene for lymphoid enhancer-binding factor 1 (LEF1) mapped to human chromosome 4 (q23-q25) and mouse chromosome 3 near Egf
-
Milatovich A., Travis A., Grosschedl R., Francke U. Gene for lymphoid enhancer-binding factor 1 (LEF1) mapped to human chromosome 4 (q23-q25) and mouse chromosome 3 near Egf. Genomics 1991, 11:1040-1048.
-
(1991)
Genomics
, vol.11
, pp. 1040-1048
-
-
Milatovich, A.1
Travis, A.2
Grosschedl, R.3
Francke, U.4
-
78
-
-
80051806451
-
GSK-3 is a master regulator of neural progenitor homeostasis
-
Kim W.Y., Wang X., Wu Y., Doble B.W., Patel S., Woodgett J.R., et al. GSK-3 is a master regulator of neural progenitor homeostasis. Nat Neurosci 2009, 12:1390-1397.
-
(2009)
Nat Neurosci
, vol.12
, pp. 1390-1397
-
-
Kim, W.Y.1
Wang, X.2
Wu, Y.3
Doble, B.W.4
Patel, S.5
Woodgett, J.R.6
-
79
-
-
0025190642
-
CNS stem cells express a new class of intermediate filament protein
-
Lendahl U., Zimmerman L.B., McKay R.D. CNS stem cells express a new class of intermediate filament protein. Cell 1990, 60:585-595.
-
(1990)
Cell
, vol.60
, pp. 585-595
-
-
Lendahl, U.1
Zimmerman, L.B.2
McKay, R.D.3
-
80
-
-
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
-
81
-
-
84887135056
-
Expanding horizons: ciliary proteins reach beyond cilia
-
Yuan S., Sun Z. Expanding horizons: ciliary proteins reach beyond cilia. Annu Rev Genet 2013, 47:353-376.
-
(2013)
Annu Rev Genet
, vol.47
, pp. 353-376
-
-
Yuan, S.1
Sun, Z.2
-
82
-
-
84875935957
-
Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2)
-
Khonsari R.H., Ohazama A., Raouf R., Kawasaki M., Kawasaki K., Porntaveetus T., et al. Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2). Hum Mol Genet 2013, 22:1873-1885.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 1873-1885
-
-
Khonsari, R.H.1
Ohazama, A.2
Raouf, R.3
Kawasaki, M.4
Kawasaki, K.5
Porntaveetus, T.6
-
83
-
-
77953120200
-
Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene
-
Walczak-Sztulpa J., Eggenschwiler J., Osborn D., Brown D.A., Emma F., Klingenberg C., et al. Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet 2010, 86:949-956.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 949-956
-
-
Walczak-Sztulpa, J.1
Eggenschwiler, J.2
Osborn, D.3
Brown, D.A.4
Emma, F.5
Klingenberg, C.6
-
84
-
-
0141593474
-
Patterning of the hyoid cartilage depends upon signals arising from the ventral foregut endoderm
-
Ruhin B., Creuzet S., Vincent C., Benouaiche L., Le Douarin N.M., Couly G. Patterning of the hyoid cartilage depends upon signals arising from the ventral foregut endoderm. Dev Dyn 2003, 228:239-246.
-
(2003)
Dev Dyn
, vol.228
, pp. 239-246
-
-
Ruhin, B.1
Creuzet, S.2
Vincent, C.3
Benouaiche, L.4
Le Douarin, N.M.5
Couly, G.6
-
85
-
-
0036336298
-
Interactions between Hox-negative cephalic neural crest cells and the foregut endoderm in patterning the facial skeleton in the vertebrate head
-
Couly G., Creuzet S., Bennaceur S., Vincent C., Le Douarin N.M. Interactions between Hox-negative cephalic neural crest cells and the foregut endoderm in patterning the facial skeleton in the vertebrate head. Development 2002, 129:1061-1073.
-
(2002)
Development
, vol.129
, pp. 1061-1073
-
-
Couly, G.1
Creuzet, S.2
Bennaceur, S.3
Vincent, C.4
Le Douarin, N.M.5
-
86
-
-
61649116183
-
Primary cilia and signaling pathways in mammalian development, health and disease
-
Veland I.R., Awan A., Pedersen L.B., Yoder B.K., Christensen S.T. Primary cilia and signaling pathways in mammalian development, health and disease. Nephron Physiol 2009, 111:39-53.
-
(2009)
Nephron Physiol
, vol.111
, pp. 39-53
-
-
Veland, I.R.1
Awan, A.2
Pedersen, L.B.3
Yoder, B.K.4
Christensen, S.T.5
-
87
-
-
0037673939
-
Cranial skeletal biology
-
Helms J.A., Schneider R.A. Cranial skeletal biology. Nature 2003, 423:326-331.
-
(2003)
Nature
, vol.423
, pp. 326-331
-
-
Helms, J.A.1
Schneider, R.A.2
-
88
-
-
33846930620
-
Sonic hedgehog in the pharyngeal endoderm controls arch pattern via regulation of Fgf8 in head ectoderm
-
Haworth K.E., Wilson J.M., Grevellec A., Cobourne M.T., Healy C., Helms J.A., et al. Sonic hedgehog in the pharyngeal endoderm controls arch pattern via regulation of Fgf8 in head ectoderm. Dev Biol 2007, 303:244-258.
-
(2007)
Dev Biol
, vol.303
, pp. 244-258
-
-
Haworth, K.E.1
Wilson, J.M.2
Grevellec, A.3
Cobourne, M.T.4
Healy, C.5
Helms, J.A.6
-
90
-
-
79251475596
-
Cranial neural crest cells on the move: their roles in craniofacial development
-
Cordero D.R., Brugmann S., Chu Y., Bajpai R., Jame M., Helms J.A. Cranial neural crest cells on the move: their roles in craniofacial development. Am J Med Genet A 2011, 155A:270-279.
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 270-279
-
-
Cordero, D.R.1
Brugmann, S.2
Chu, Y.3
Bajpai, R.4
Jame, M.5
Helms, J.A.6
-
91
-
-
29644441705
-
Dysfunctional cilia lead to altered ependyma and choroid plexus function, and result in the formation of hydrocephalus
-
Banizs B., Pike M.M., Millican C.L., Ferguson W.B., Komlosi P., Sheetz J., et al. Dysfunctional cilia lead to altered ependyma and choroid plexus function, and result in the formation of hydrocephalus. Development 2005, 132:5329-5339.
-
(2005)
Development
, vol.132
, pp. 5329-5339
-
-
Banizs, B.1
Pike, M.M.2
Millican, C.L.3
Ferguson, W.B.4
Komlosi, P.5
Sheetz, J.6
-
92
-
-
84872182391
-
The assessment of bulging fontanel and splitting of sutures in premature infants: an interrater reliability study by the Hydrocephalus Clinical Research Network
-
Wellons J.C., Holubkov R., Browd S.R., Riva-Cambrin J., Whitehead W., Kestle J., et al. The assessment of bulging fontanel and splitting of sutures in premature infants: an interrater reliability study by the Hydrocephalus Clinical Research Network. J Neurosurg Pediatr 2013, 11:12-14.
-
(2013)
J Neurosurg Pediatr
, vol.11
, pp. 12-14
-
-
Wellons, J.C.1
Holubkov, R.2
Browd, S.R.3
Riva-Cambrin, J.4
Whitehead, W.5
Kestle, J.6
-
93
-
-
42649101326
-
Impaired meningeal development in association with apical expansion of calvarial bone osteogenesis in the Foxc1 mutant
-
Vivatbutsiri P., Ichinose S., Hytonen M., Sainio K., Eto K., Iseki S. Impaired meningeal development in association with apical expansion of calvarial bone osteogenesis in the Foxc1 mutant. J Anat 2008, 212:603-611.
-
(2008)
J Anat
, vol.212
, pp. 603-611
-
-
Vivatbutsiri, P.1
Ichinose, S.2
Hytonen, M.3
Sainio, K.4
Eto, K.5
Iseki, S.6
-
94
-
-
0032749014
-
The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis
-
Hu D., Helms J.A. The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis. Development 1999, 126:4873-4884.
-
(1999)
Development
, vol.126
, pp. 4873-4884
-
-
Hu, D.1
Helms, J.A.2
-
95
-
-
33750338717
-
The Wnt/beta-catenin pathway regulates Gli-mediated Myf5 expression during somitogenesis
-
Borello U., Berarducci B., Murphy P., Bajard L., Buffa V., Piccolo S., et al. The Wnt/beta-catenin pathway regulates Gli-mediated Myf5 expression during somitogenesis. Development 2006, 133:3723-3732.
-
(2006)
Development
, vol.133
, pp. 3723-3732
-
-
Borello, U.1
Berarducci, B.2
Murphy, P.3
Bajard, L.4
Buffa, V.5
Piccolo, S.6
-
96
-
-
13444302715
-
Sequential roles of Hedgehog and Wnt signaling in osteoblast development
-
Hu H., Hilton M.J., Tu X., Yu K., Ornitz D.M., Long F. Sequential roles of Hedgehog and Wnt signaling in osteoblast development. Development 2005, 132:49-60.
-
(2005)
Development
, vol.132
, pp. 49-60
-
-
Hu, H.1
Hilton, M.J.2
Tu, X.3
Yu, K.4
Ornitz, D.M.5
Long, F.6
-
97
-
-
84865856693
-
Antagonistic cross-regulation between Wnt and Hedgehog signalling pathways controls post-embryonic retinal proliferation
-
Borday C., Cabochette P., Parain K., Mazurier N., Janssens S., Tran H.T., et al. Antagonistic cross-regulation between Wnt and Hedgehog signalling pathways controls post-embryonic retinal proliferation. Development 2012, 139:3499-3509.
-
(2012)
Development
, vol.139
, pp. 3499-3509
-
-
Borday, C.1
Cabochette, P.2
Parain, K.3
Mazurier, N.4
Janssens, S.5
Tran, H.T.6
-
98
-
-
77956564468
-
Inhibition of Wnt signaling by Wise (Sostdc1) and negative feedback from Shh controls tooth number and patterning
-
Ahn Y., Sanderson B.W., Klein O.D., Krumlauf R. Inhibition of Wnt signaling by Wise (Sostdc1) and negative feedback from Shh controls tooth number and patterning. Development 2010, 137:3221-3231.
-
(2010)
Development
, vol.137
, pp. 3221-3231
-
-
Ahn, Y.1
Sanderson, B.W.2
Klein, O.D.3
Krumlauf, R.4
-
99
-
-
69949120070
-
Primary cilia are not required for normal canonical Wnt signaling in the mouse embryo
-
Ocbina P.J., Tuson M., Anderson K.V. Primary cilia are not required for normal canonical Wnt signaling in the mouse embryo. PLoS ONE 2009, 4:e6839.
-
(2009)
PLoS ONE
, vol.4
-
-
Ocbina, P.J.1
Tuson, M.2
Anderson, K.V.3
-
100
-
-
0033062278
-
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
-
Beales P.L., Elcioglu N., Woolf A.S., Parker D., Flinter F.A. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999, 36:437-446.
-
(1999)
J Med Genet
, vol.36
, pp. 437-446
-
-
Beales, P.L.1
Elcioglu, N.2
Woolf, A.S.3
Parker, D.4
Flinter, F.A.5
-
101
-
-
19944431708
-
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study
-
Moore S.J., Green J.S., Fan Y., Bhogal A.K., Dicks E., Fernandez B.A., et al. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A 2005, 132:352-360.
-
(2005)
Am J Med Genet A
, vol.132
, pp. 352-360
-
-
Moore, S.J.1
Green, J.S.2
Fan, Y.3
Bhogal, A.K.4
Dicks, E.5
Fernandez, B.A.6
-
103
-
-
37249092507
-
The face of Joubert syndrome: a study of dysmorphology and anthropometry
-
Braddock S.R., Henley K.M., Maria B.L. The face of Joubert syndrome: a study of dysmorphology and anthropometry. Am J Med Genet A 2007, 143A:3235-3242.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 3235-3242
-
-
Braddock, S.R.1
Henley, K.M.2
Maria, B.L.3
-
104
-
-
0032851825
-
Clinical features and revised diagnostic criteria in Joubert syndrome
-
discussion 590-1
-
Maria B.L., Boltshauser E., Palmer S.C., Tran T.X. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999, 14:583-590. discussion 590-1.
-
(1999)
J Child Neurol
, vol.14
, pp. 583-590
-
-
Maria, B.L.1
Boltshauser, E.2
Palmer, S.C.3
Tran, T.X.4
-
106
-
-
0021956991
-
Brain pathology in the Meckel syndrome: a study of 59 cases
-
Paetau A., Salonen R., Haltia M. Brain pathology in the Meckel syndrome: a study of 59 cases. Clin Neuropathol 1985, 4:56-62.
-
(1985)
Clin Neuropathol
, vol.4
, pp. 56-62
-
-
Paetau, A.1
Salonen, R.2
Haltia, M.3
-
107
-
-
0021280772
-
The Meckel syndrome: clinicopathological findings in 67 patients
-
Salonen R. The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet 1984, 18:671-689.
-
(1984)
Am J Med Genet
, vol.18
, pp. 671-689
-
-
Salonen, R.1
-
108
-
-
55349129995
-
Oral-facial-digital type ICG. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients
-
Prattichizzo C., Macca M., Novelli V., Giorgio G., Barra A., Franco B. Oral-facial-digital type ICG. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Hum Mutat 2008, 29:1237-1246.
-
(2008)
Hum Mutat
, vol.29
, pp. 1237-1246
-
-
Prattichizzo, C.1
Macca, M.2
Novelli, V.3
Giorgio, G.4
Barra, A.5
Franco, B.6
-
109
-
-
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., Cossee 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
Cossee, M.2
Cormier-Daire, V.3
Van Maldergem, L.4
Toutain, A.5
Alembik, Y.6
-
110
-
-
0025208291
-
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies
-
Meinecke P., Hayek H. Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies. J Med Genet 1990, 27:200-202.
-
(1990)
J Med Genet
, vol.27
, pp. 200-202
-
-
Meinecke, P.1
Hayek, H.2
-
111
-
-
0037369840
-
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome
-
Ruiz-Perez V.L., Tompson S.W., Blair H.J., Espinoza-Valdez C., Lapunzina P., Silva E.O., et al. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet 2003, 72:728-732.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 728-732
-
-
Ruiz-Perez, V.L.1
Tompson, S.W.2
Blair, H.J.3
Espinoza-Valdez, C.4
Lapunzina, P.5
Silva, E.O.6
-
112
-
-
0031472220
-
Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus
-
Howard T.D., Guttmacher A.E., McKinnon W., Sharma M., McKusick V.A., Jabs E.W. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. Am J Hum Genet 1997, 61:1405-1412.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1405-1412
-
-
Howard, T.D.1
Guttmacher, A.E.2
McKinnon, W.3
Sharma, M.4
McKusick, V.A.5
Jabs, E.W.6
-
113
-
-
77956393882
-
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
-
Gilissen C., Arts H.H., Hoischen A., Spruijt L., Mans D.A., Arts P., et al. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet 2010, 87:418-423.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 418-423
-
-
Gilissen, C.1
Arts, H.H.2
Hoischen, A.3
Spruijt, L.4
Mans, D.A.5
Arts, P.6
-
114
-
-
0017327514
-
A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia
-
Levin L.S., Perrin J.C., Ose L., Dorst J.P., Miller J.D., McKusick V.A. A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia. J Pediatr 1977, 90:55-61.
-
(1977)
J Pediatr
, vol.90
, pp. 55-61
-
-
Levin, L.S.1
Perrin, J.C.2
Ose, L.3
Dorst, J.P.4
Miller, J.D.5
McKusick, V.A.6
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