-
2
-
-
45849092258
-
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations
-
Passos-Bueno MR, Serti Eacute AE, Jehee FS, Fanganiello R, Yeh E, (2008) Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. Front Oral Biol 12: 107-143.
-
(2008)
Front Oral Biol
, vol.12
, pp. 107-143
-
-
Passos-Bueno, M.R.1
Serti Eacute, A.E.2
Jehee, F.S.3
Fanganiello, R.4
Yeh, E.5
-
4
-
-
0027394497
-
Visceral anomalies in the Apert syndrome
-
Cohen MM Jr, Kreiborg S, (1993) Visceral anomalies in the Apert syndrome. Am J Med Genet 45: 758-760.
-
(1993)
Am J Med Genet
, vol.45
, pp. 758-760
-
-
Cohen Jr, M.M.1
Kreiborg, S.2
-
5
-
-
0029983638
-
Exclusive paternal origin of new mutations in Apert syndrome
-
Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, et al. (1996) Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet 13: 48-53.
-
(1996)
Nat Genet
, vol.13
, pp. 48-53
-
-
Moloney, D.M.1
Slaney, S.F.2
Oldridge, M.3
Wall, S.A.4
Sahlin, P.5
-
6
-
-
0026595985
-
Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods
-
Cohen MM Jr, Kreiborg S, (1992) Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. Clin Genet 41: 12-15.
-
(1992)
Clin Genet
, vol.41
, pp. 12-15
-
-
Cohen Jr, M.M.1
Kreiborg, S.2
-
7
-
-
5444250989
-
Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities
-
Ibrahimi OA, Zhang F, Eliseenkova AV, Itoh N, Linhardt RJ, et al. (2004) Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. Hum Mol Genet 13: 2313-2324.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2313-2324
-
-
Ibrahimi, O.A.1
Zhang, F.2
Eliseenkova, A.V.3
Itoh, N.4
Linhardt, R.J.5
-
8
-
-
0028846512
-
Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome
-
Neilson KM, Friesel RE, (1995) Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome. J Biol Chem 270: 26037-26040.
-
(1995)
J Biol Chem
, vol.270
, pp. 26037-26040
-
-
Neilson, K.M.1
Friesel, R.E.2
-
9
-
-
34548492521
-
Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells
-
Fanganiello RD, Sertie AL, Reis EM, Yeh E, Oliveira NA, et al. (2007) Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells. Mol Med 13: 422-442.
-
(2007)
Mol Med
, vol.13
, pp. 422-442
-
-
Fanganiello, R.D.1
Sertie, A.L.2
Reis, E.M.3
Yeh, E.4
Oliveira, N.A.5
-
10
-
-
16844363879
-
Sox2 induction by FGF and FGFR2 activating mutations inhibits Wnt signaling and osteoblast differentiation
-
Mansukhani A, Ambrosetti D, Holmes G, Cornivelli L, Basilico C, (2005) Sox2 induction by FGF and FGFR2 activating mutations inhibits Wnt signaling and osteoblast differentiation. J Cell Biol 168: 1065-1076.
-
(2005)
J Cell Biol
, vol.168
, pp. 1065-1076
-
-
Mansukhani, A.1
Ambrosetti, D.2
Holmes, G.3
Cornivelli, L.4
Basilico, C.5
-
11
-
-
24344453489
-
Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse
-
Wang Y, Xiao R, Yang F, Karim BO, Iacovelli AJ, et al. (2005) Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. Development 132: 3537-3548.
-
(2005)
Development
, vol.132
, pp. 3537-3548
-
-
Wang, Y.1
Xiao, R.2
Yang, F.3
Karim, B.O.4
Iacovelli, A.J.5
-
12
-
-
84887820787
-
FGFR2 Mutation Confers a Less Drastic Gain of Function in Mesenchymal Stem Cells Than in Fibroblasts
-
Yeh E, Atique R, Ishiy FA, Fanganiello RD, Alonso N, et al. (2011) FGFR2 Mutation Confers a Less Drastic Gain of Function in Mesenchymal Stem Cells Than in Fibroblasts. Stem Cell Rev.
-
(2011)
Stem Cell Rev
-
-
Yeh, E.1
Atique, R.2
Ishiy, F.A.3
Fanganiello, R.D.4
Alonso, N.5
-
13
-
-
0034687699
-
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome
-
Yu K, Herr AB, Waksman G, Ornitz DM, (2000) Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. Proc Natl Acad Sci U S A 97: 14536-14541.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 14536-14541
-
-
Yu, K.1
Herr, A.B.2
Waksman, G.3
Ornitz, D.M.4
-
14
-
-
12344330424
-
limmaGUI: a graphical user interface for linear modeling of microarray data
-
Wettenhall JM, Smyth GK, (2004) limmaGUI: a graphical user interface for linear modeling of microarray data. Bioinformatics 20: 3705-3706.
-
(2004)
Bioinformatics
, vol.20
, pp. 3705-3706
-
-
Wettenhall, J.M.1
Smyth, G.K.2
-
15
-
-
33751006151
-
RankProd: a bioconductor package for detecting differentially expressed genes in meta-analysis
-
Hong F, Breitling R, McEntee CW, Wittner BS, Nemhauser JL, et al. (2006) RankProd: a bioconductor package for detecting differentially expressed genes in meta-analysis. Bioinformatics 22: 2825-2827.
-
(2006)
Bioinformatics
, vol.22
, pp. 2825-2827
-
-
Hong, F.1
Breitling, R.2
McEntee, C.W.3
Wittner, B.S.4
Nemhauser, J.L.5
-
16
-
-
0035942271
-
Significance analysis of microarrays applied to the ionizing radiation response
-
Tusher VG, Tibshirani R, Chu G, (2001) Significance analysis of microarrays applied to the ionizing radiation response. Proc Natl Acad Sci U S A 98: 5116-5121.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 5116-5121
-
-
Tusher, V.G.1
Tibshirani, R.2
Chu, G.3
-
17
-
-
35748932917
-
A review of feature selection techniques in bioinformatics
-
Saeys Y, Inza I, Larranaga P, (2007) A review of feature selection techniques in bioinformatics. Bioinformatics 23: 2507-2517.
-
(2007)
Bioinformatics
, vol.23
, pp. 2507-2517
-
-
Saeys, Y.1
Inza, I.2
Larranaga, P.3
-
18
-
-
0037129827
-
Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes
-
Vandesompele J, De Preter K, Pattyn F, Poppe B, Van Roy N, et al. (2002) Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol 3: RESEARCH0034.
-
(2002)
Genome Biol
, vol.3
-
-
Vandesompele, J.1
De Preter, K.2
Pattyn, F.3
Poppe, B.4
Van Roy, N.5
-
19
-
-
56249093091
-
Stereocilin-deficient mice reveal the origin of cochlear waveform distortions
-
Verpy E, Weil D, Leibovici M, Goodyear RJ, Hamard G, et al. (2008) Stereocilin-deficient mice reveal the origin of cochlear waveform distortions. Nature 456: 255-258.
-
(2008)
Nature
, vol.456
, pp. 255-258
-
-
Verpy, E.1
Weil, D.2
Leibovici, M.3
Goodyear, R.J.4
Hamard, G.5
-
20
-
-
36349033602
-
Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review
-
Raybaud C, Di Rocco C, (2007) Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review. Childs Nerv Syst 23: 1379-1388.
-
(2007)
Childs Nerv Syst
, vol.23
, pp. 1379-1388
-
-
Raybaud, C.1
Di Rocco, C.2
-
21
-
-
77149127680
-
Brain phenotypes in two FGFR2 mouse models for Apert syndrome
-
Aldridge K, Hill CA, Austin JR, Percival C, Martinez-Abadias N, et al. (2010) Brain phenotypes in two FGFR2 mouse models for Apert syndrome. Dev Dyn 239: 987-997.
-
(2010)
Dev Dyn
, vol.239
, pp. 987-997
-
-
Aldridge, K.1
Hill, C.A.2
Austin, J.R.3
Percival, C.4
Martinez-Abadias, N.5
-
22
-
-
0026736833
-
The FGF family of growth factors and oncogenes
-
Basilico C, Moscatelli D, (1992) The FGF family of growth factors and oncogenes. Adv Cancer Res 59: 115-165.
-
(1992)
Adv Cancer Res
, vol.59
, pp. 115-165
-
-
Basilico, C.1
Moscatelli, D.2
-
23
-
-
0032557555
-
Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia
-
Legeai-Mallet L, Benoist-Lasselin C, Delezoide AL, Munnich A, Bonaventure J, (1998) Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia. J Biol Chem 273: 13007-13014.
-
(1998)
J Biol Chem
, vol.273
, pp. 13007-13014
-
-
Legeai-Mallet, L.1
Benoist-Lasselin, C.2
Delezoide, A.L.3
Munnich, A.4
Bonaventure, J.5
-
24
-
-
0033151612
-
FGF signaling inhibits chondrocyte proliferation and regulates bone development through the STAT-1 pathway
-
Sahni M, Ambrosetti DC, Mansukhani A, Gertner R, Levy D, et al. (1999) FGF signaling inhibits chondrocyte proliferation and regulates bone development through the STAT-1 pathway. Genes Dev 13: 1361-1366.
-
(1999)
Genes Dev
, vol.13
, pp. 1361-1366
-
-
Sahni, M.1
Ambrosetti, D.C.2
Mansukhani, A.3
Gertner, R.4
Levy, D.5
-
25
-
-
0033830925
-
FGF signals for cell proliferation and migration through different pathways
-
Boilly B, Vercoutter-Edouart AS, Hondermarck H, Nurcombe V, Le Bourhis X, (2000) FGF signals for cell proliferation and migration through different pathways. Cytokine Growth Factor Rev 11: 295-302.
-
(2000)
Cytokine Growth Factor Rev
, vol.11
, pp. 295-302
-
-
Boilly, B.1
Vercoutter-Edouart, A.S.2
Hondermarck, H.3
Nurcombe, V.4
Le Bourhis, X.5
-
26
-
-
0034649608
-
Attenuation of FGF signalling in mouse beta-cells leads to diabetes
-
Hart AW, Baeza N, Apelqvist A, Edlund H, (2000) Attenuation of FGF signalling in mouse beta-cells leads to diabetes. Nature 408: 864-868.
-
(2000)
Nature
, vol.408
, pp. 864-868
-
-
Hart, A.W.1
Baeza, N.2
Apelqvist, A.3
Edlund, H.4
-
27
-
-
0030871359
-
Mutation associated with Crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2
-
Mangasarian K, Li Y, Mansukhani A, Basilico C, (1997) Mutation associated with Crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2. J Cell Physiol 172: 117-125.
-
(1997)
J Cell Physiol
, vol.172
, pp. 117-125
-
-
Mangasarian, K.1
Li, Y.2
Mansukhani, A.3
Basilico, C.4
-
28
-
-
0026409098
-
Differential localization and possible functions of aFGF and bFGF in the central and peripheral nervous systems
-
Eckenstein F, Woodward WR, Nishi R, (1991) Differential localization and possible functions of aFGF and bFGF in the central and peripheral nervous systems. Ann N Y Acad Sci 638: 348-360.
-
(1991)
Ann N Y Acad Sci
, vol.638
, pp. 348-360
-
-
Eckenstein, F.1
Woodward, W.R.2
Nishi, R.3
-
29
-
-
77956327220
-
Expression and functions of fibroblast growth factor 2 (FGF-2) in hippocampal formation
-
Zechel S, Werner S, Unsicker K, von Bohlen und Halbach O, (2010) Expression and functions of fibroblast growth factor 2 (FGF-2) in hippocampal formation. Neuroscientist 16: 357-373.
-
(2010)
Neuroscientist
, vol.16
, pp. 357-373
-
-
Zechel, S.1
Werner, S.2
Unsicker, K.3
von Bohlen und Halbach, O.4
-
30
-
-
0024792582
-
Basic fibroblast growth factor (FGF) in the central nervous system: identification of specific loci of basic FGF expression in the rat brain
-
Emoto N, Gonzalez AM, Walicke PA, Wada E, Simmons DM, et al. (1989) Basic fibroblast growth factor (FGF) in the central nervous system: identification of specific loci of basic FGF expression in the rat brain. Growth Factors 2: 21-29.
-
(1989)
Growth Factors
, vol.2
, pp. 21-29
-
-
Emoto, N.1
Gonzalez, A.M.2
Walicke, P.A.3
Wada, E.4
Simmons, D.M.5
-
31
-
-
0027740184
-
Protective actions of human recombinant basic fibroblast growth factor on MPTP-lesioned nigrostriatal dopamine neurons after intraventricular infusion
-
Chadi G, Moller A, Rosen L, Janson AM, Agnati LA, et al. (1993) Protective actions of human recombinant basic fibroblast growth factor on MPTP-lesioned nigrostriatal dopamine neurons after intraventricular infusion. Exp Brain Res 97: 145-158.
-
(1993)
Exp Brain Res
, vol.97
, pp. 145-158
-
-
Chadi, G.1
Moller, A.2
Rosen, L.3
Janson, A.M.4
Agnati, L.A.5
-
32
-
-
0028044181
-
Fibroblast growth factors in the nervous system
-
Eckenstein FP, (1994) Fibroblast growth factors in the nervous system. J Neurobiol 25: 1467-1480.
-
(1994)
J Neurobiol
, vol.25
, pp. 1467-1480
-
-
Eckenstein, F.P.1
-
33
-
-
0025159354
-
The central nervous system in the Apert syndrome
-
Cohen MM Jr, Kreiborg S, (1990) The central nervous system in the Apert syndrome. Am J Med Genet 35: 36-45.
-
(1990)
Am J Med Genet
, vol.35
, pp. 36-45
-
-
Cohen Jr, M.M.1
Kreiborg, S.2
-
34
-
-
0028053396
-
Cranial size and configuration in the Apert syndrome
-
Cohen MM Jr, Kreiborg S, (1994) Cranial size and configuration in the Apert syndrome. J Craniofac Genet Dev Biol 14: 153-162.
-
(1994)
J Craniofac Genet Dev Biol
, vol.14
, pp. 153-162
-
-
Cohen Jr, M.M.1
Kreiborg, S.2
-
35
-
-
0033647448
-
Management of craniosynostoses
-
Renier D, Lajeunie E, Arnaud E, Marchac D, (2000) Management of craniosynostoses. Childs Nerv Syst 16: 645-658.
-
(2000)
Childs Nerv Syst
, vol.16
, pp. 645-658
-
-
Renier, D.1
Lajeunie, E.2
Arnaud, E.3
Marchac, D.4
-
36
-
-
1642359042
-
Apert syndrome: analysis of associated brain malformations and conformational changes determined by surgical treatment
-
Yacubian-Fernandes A, Palhares A, Giglio A, Gabarra RC, Zanini S, et al. (2004) Apert syndrome: analysis of associated brain malformations and conformational changes determined by surgical treatment. J Neuroradiol 31: 116-122.
-
(2004)
J Neuroradiol
, vol.31
, pp. 116-122
-
-
Yacubian-Fernandes, A.1
Palhares, A.2
Giglio, A.3
Gabarra, R.C.4
Zanini, S.5
-
37
-
-
0026184763
-
Agenesis of the corpus callosum. Its associated anomalies and syndromes with special reference to the Apert syndrome
-
Cohen MM Jr, Kreiborg S, (1991) Agenesis of the corpus callosum. Its associated anomalies and syndromes with special reference to the Apert syndrome. Neurosurg Clin N Am 2: 565-568.
-
(1991)
Neurosurg Clin N Am
, vol.2
, pp. 565-568
-
-
Cohen Jr, M.M.1
Kreiborg, S.2
-
38
-
-
0023576776
-
Male and female genotype mediate pheromonal regulation of the mouse estrous cycle
-
De Leon DD, Barkley MS, (1987) Male and female genotype mediate pheromonal regulation of the mouse estrous cycle. Biol Reprod 37: 1066-1074.
-
(1987)
Biol Reprod
, vol.37
, pp. 1066-1074
-
-
De Leon, D.D.1
Barkley, M.S.2
-
39
-
-
33744821349
-
Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome
-
Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson CB, et al. (2006) Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome. Am J Med Genet A 140: 1337-1338.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 1337-1338
-
-
Quintero-Rivera, F.1
Robson, C.D.2
Reiss, R.E.3
Levine, D.4
Benson, C.B.5
-
40
-
-
20244389145
-
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
-
Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, et al. (2001) Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. Nat Genet 29: 345-349.
-
(2001)
Nat Genet
, vol.29
, pp. 345-349
-
-
Verpy, E.1
Masmoudi, S.2
Zwaenepoel, I.3
Leibovici, M.4
Hutchin, T.P.5
-
41
-
-
78650229876
-
Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane
-
Verpy E, Leibovici M, Michalski N, Goodyear RJ, Houdon C, et al. (2011) Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane. J Comp Neurol 519: 194-210.
-
(2011)
J Comp Neurol
, vol.519
, pp. 194-210
-
-
Verpy, E.1
Leibovici, M.2
Michalski, N.3
Goodyear, R.J.4
Houdon, C.5
-
42
-
-
84866064317
-
Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses
-
Agochukwu NB, Solomon BD, Muenke M, (2012) Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst 28: 1447-1463.
-
(2012)
Childs Nerv Syst
, vol.28
, pp. 1447-1463
-
-
Agochukwu, N.B.1
Solomon, B.D.2
Muenke, M.3
|