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1
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85030585762
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Entry #101200, Apert Syndrome
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Online Mendelian Inheritance in Man Database, Entry #101200, Apert Syndrome, http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?101200.
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Online Mendelian Inheritance in Man Database
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2
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0026568156
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Birth prevalence study of the Apert Syndrome
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Cohen M.M. Jr., Kreiborg S., Lammer E.J., Cordero J.F., Mastroiacovo P., Erickson J.D.et al. Birth prevalence study of the Apert Syndrome. Am. J. Med. Genet. 42:1992;655-659.
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Cohen, M.M.Jr.1
Kreiborg, S.2
Lammer, E.J.3
Cordero, J.F.4
Mastroiacovo, P.5
Erickson, J.D.6
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4
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0030867052
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Birth prevalence, mutation rate, sex ratio, parents' age, and ethnicity in Apert syndrome
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Tolarova M.M., Harris J.A., Ordway D.E., Vargervik K. Birth prevalence, mutation rate, sex ratio, parents' age, and ethnicity in Apert syndrome. Am. J. Med. Genet. 72:1997;394-398.
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Tolarova, M.M.1
Harris, J.A.2
Ordway, D.E.3
Vargervik, K.4
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5
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0027522002
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Skeletal abnormalities in the Apert syndrome
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Cohen M.M. Jr., Kreiborg S. Skeletal abnormalities in the Apert syndrome. Am. J. Med. Genet. 47:1993;624-632.
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Cohen, M.M.Jr.1
Kreiborg, S.2
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6
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0027234483
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Comparative three-dimensional analysis of CT-scans of the calvaria and cranial base in Apert and Crouzon syndromes
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Kreiborg S., Marsh J.L., Cohen M.M. Jr., Liversage M., Pedersen H., Skovby F.et al. Comparative three-dimensional analysis of CT-scans of the calvaria and cranial base in Apert and Crouzon syndromes. J. Cranio-Maxillo-Facial Surg. 21:1993;181-188.
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Kreiborg, S.1
Marsh, J.L.2
Cohen, M.M.Jr.3
Liversage, M.4
Pedersen, H.5
Skovby, F.6
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8
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0023026695
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Congenital conductive hearing loss in Apert syndrome
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Phillips S.G., Miyamoto R.T. Congenital conductive hearing loss in Apert syndrome. Otolaryngol. H. N. Surg. 95:1986;429-433.
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Phillips, S.G.1
Miyamoto, R.T.2
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9
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0019964448
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Hearing and otopathology in Apert syndrome
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Gould H.J., Caldarelli D.D. Hearing and otopathology in Apert syndrome. Arch. Otolaryngol. 108:1982;347-354.
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Gould, H.J.1
Caldarelli, D.D.2
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10
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0032521181
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Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome
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Lomri A., Lemonnier J., Hott M., de Parseval N., Lajeunie E., Munnich A.et al. Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome. J. Clin. Invest. 101:1998;1310-1317.
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Lomri, A.1
Lemonnier, J.2
Hott, M.3
De Parseval, N.4
Lajeunie, E.5
Munnich, A.6
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11
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0016794494
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Acrocephalosyndactyly (Apert's syndrome): Temporal bone findings
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Lindsay J.R., Black F.O., Donnelly W.H. Jr. Acrocephalosyndactyly (Apert's syndrome): temporal bone findings. Ann. Otol. 84:1975;174-178.
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Lindsay, J.R.1
Black, F.O.2
Donnelly, W.H.Jr.3
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13
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0027156877
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Complications in stapes surgery. Options for prevention and management
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Wiet R.J., Harvey S.A., Bauer G.P. Complications in stapes surgery. Options for prevention and management. Otolaryngol. Clin. N. Am. 26:1993;471-490.
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Wiet, R.J.1
Harvey, S.A.2
Bauer, G.P.3
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14
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0028921130
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Stapedectomy for congenital fixation of the stapes
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Dornhoffer J.L., Helms J., Hoehmann D.H. Stapedectomy for congenital fixation of the stapes. Am. J. Otol. 16:1995;382-386.
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Dornhoffer, J.L.1
Helms, J.2
Hoehmann, D.H.3
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15
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0021047702
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Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery)
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Cremers C.W.R.J., Huygen P.L.M. Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery). Int. J. Pediatr. Oto-Rhino-Laryngol. 6:1983;179-185.
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Cremers, C.W.R.J.1
Huygen, P.L.M.2
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16
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0021964111
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X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery
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Cremers C.W.R.J., Hombergen G.C.H.J., Scaf J.J., Huygen P.L.M., Volkers W.S., Pinckers A.J.L.G. X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery. Arch. Otolaryngol. 111:1985;249-254.
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Cremers, C.W.R.J.1
Hombergen, G.C.H.J.2
Scaf, J.J.3
Huygen, P.L.M.4
Volkers, W.S.5
Pinckers, A.J.L.G.6
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17
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0032215599
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X-linked deafness with stapes gusher in females
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Papadaki E., Prassopoulos P., Bizakis J., Karampekios S., Papadakis H., Gourtsoyiannis N. X-linked deafness with stapes gusher in females. Eur. J. Radiol. 29:1998;71-75.
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Papadaki, E.1
Prassopoulos, P.2
Bizakis, J.3
Karampekios, S.4
Papadakis, H.5
Gourtsoyiannis, N.6
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19
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0027240243
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Enlargement of the cochlear aqueduct: Fact or fiction?
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Jackler R.K., Hwang P.H. Enlargement of the cochlear aqueduct: fact or fiction? Otolaryngol. H. N. Surg. 109:1993;14-25.
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Jackler, R.K.1
Hwang, P.H.2
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20
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0023376032
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Fluid flow in the cochlear aqueduct and cochlea: Hydrodynamic considerations in perilymph fistula, stapes gusher, and secondary endolymphatic hydrops
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Allen G.W. Fluid flow in the cochlear aqueduct and cochlea: hydrodynamic considerations in perilymph fistula, stapes gusher, and secondary endolymphatic hydrops. Amer. J. Otol. 8:1987;319-322.
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, vol.8
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Allen, G.W.1
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21
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0013866172
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Cerebrospinal fluid otorrhea
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Kinnman J., Lee C.W. Cerebrospinal fluid otorrhea. J. Laryngol. Otol. 80(1):1966;66-72.
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Kinnman, J.1
Lee, C.W.2
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23
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0025870974
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X-linked deafness, stapes gushers and a distinctive defect of the inner ear
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Phelps P.D., Reardon W., Pembrey M., Bellman S., Luxom L. X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiol. 33:1991;326-330.
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Neuroradiol
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Phelps, P.D.1
Reardon, W.2
Pembrey, M.3
Bellman, S.4
Luxom, L.5
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24
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0033781176
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Sensorineural and conductive hearing loss associated with lateral semicircular canal malformation
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Johnson J., Lalwani A.K. Sensorineural and conductive hearing loss associated with lateral semicircular canal malformation. Laryngoscope. 110:2000;1673-1679.
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Laryngoscope
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Johnson, J.1
Lalwani, A.K.2
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25
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0025244308
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Isolated congenital stapes ankylosis: Surgical results in 32 ears and a review of the literature
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Teunissen R., Cremers C.W.R.J., Huygen P.L.M., Pouwels T.P.B.M. Isolated congenital stapes ankylosis: surgical results in 32 ears and a review of the literature. Laryngoscope. 11:1990;1331-1336.
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Teunissen, R.1
Cremers, C.W.R.J.2
Huygen, P.L.M.3
Pouwels, T.P.B.M.4
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26
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0017990680
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Stapes gusher and Klippel-Feil syndome
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Danilidis J., Maganaris T., Dimitriadis A., Iliades T., Manolidis L. Stapes gusher and Klippel-Feil syndome. Laryngoscope. 88:1978;1178-1183.
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Laryngoscope
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Danilidis, J.1
Maganaris, T.2
Dimitriadis, A.3
Iliades, T.4
Manolidis, L.5
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27
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0014267104
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Cerebrospinal fluid otorrhea and the congenitally fixed stapes
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Olson N.R., Lehman R.H. Cerebrospinal fluid otorrhea and the congenitally fixed stapes. Laryngoscope. 78:1968;352-360.
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Laryngoscope
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Olson, N.R.1
Lehman, R.H.2
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29
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Selected syndromes and conditions
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Tewfik T.L., Der Kaloustian V.M. (Eds.), Oxford University Press, Oxford
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Tewfik T.L., Teebi A.S., Der Kaloustian V.M., Selected syndromes and conditions, in: Tewfik T.L., Der Kaloustian V.M. (Eds.), Congenital Anomalies of the Ear, Nose, and Throat, Oxford University Press, Oxford, 1997, pp. 445-446.
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Congenital Anomalies of the Ear, Nose, and Throat
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Tewfik, T.L.1
Teebi, A.S.2
Der Kaloustian, V.M.3
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