-
1
-
-
0017134214
-
Congenital ophthalmoplegia in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome): A clinicopathologic study and review of the literature
-
Aleksic S, Budzilovich G, Choy A, Reuben R, Randt C, Finegold M, McCarthy J, Converse, Feigin I. Congenital ophthalmoplegia in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome): a clinicopathologic study and review of the literature. Neurology. 1976;26:638-644.
-
(1976)
Neurology
, vol.26
, pp. 638-644
-
-
Aleksic, S.1
Budzilovich, G.2
Choy, A.3
Reuben, R.4
Randt, C.5
Finegold, M.6
McCarthy, J.7
Converse8
Feigin, I.9
-
2
-
-
18044382757
-
Autosomal dominant microtia and ocular coloboma: New syndrome or an extension of the oculo-auriculo-vertebral spectrum?
-
Beck AE, Hudgins L, Hoyme HE. Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? Am J Med Genet. 2005;134A:359-362.
-
(2005)
Am J Med Genet
, vol.134 A
, pp. 359-362
-
-
Beck, A.E.1
Hudgins, L.2
Hoyme, H.E.3
-
3
-
-
0042193658
-
Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)
-
Bergmann C, Zerres K, Peschgens T, Senderek J, Hornchen H, Rudnik-Schoneborn S. Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC). Am J Med Genet. 2003;121A:151-155.
-
(2003)
Am J Med Genet
, vol.121 A
, pp. 151-155
-
-
Bergmann, C.1
Zerres, K.2
Peschgens, T.3
Senderek, J.4
Hornchen, H.5
Rudnik-Schoneborn, S.6
-
4
-
-
1642295637
-
Goldenhar's Syndrome (oculo-auriculo-vertebral dysplasia) with congenital facial nerve palsy
-
Berker N, Acaroglu G, Soykan E. Goldenhar's Syndrome (oculo-auriculo- vertebral dysplasia) with congenital facial nerve palsy. Yonsei Med J. 2004;45: 157-160.
-
(2004)
Yonsei Med J
, vol.45
, pp. 157-160
-
-
Berker, N.1
Acaroglu, G.2
Soykan, E.3
-
6
-
-
0037438595
-
Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects
-
Derbent M, Yilmaz Z, Baltaci V, Saygili A, Varan B, Tokel K. Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. Am J Med Genet A. 2003;116A:129-135.
-
(2003)
Am J Med Genet A
, vol.116 A
, pp. 129-135
-
-
Derbent, M.1
Yilmaz, Z.2
Baltaci, V.3
Saygili, A.4
Varan, B.5
Tokel, K.6
-
7
-
-
0032863071
-
Oculo-auriculo-vertebral spectrum in Klinefelter syndrome
-
Garavelli L, Virdis R, Donadio A, Sigorini M, Banchini G, Balestrazzi P, Fryns JP. Oculo-auriculo-vertebral spectrum in Klinefelter syndrome. Genet Couns. 1999;10:321-324.
-
(1999)
Genet Couns
, vol.10
, pp. 321-324
-
-
Garavelli, L.1
Virdis, R.2
Donadio, A.3
Sigorini, M.4
Banchini, G.5
Balestrazzi, P.6
Fryns, J.P.7
-
10
-
-
0033008615
-
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?
-
Guion-Almeida ML, Richieri-Costa A. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? Clin Dysmorphol. 1999;8:1-4.
-
(1999)
Clin Dysmorphol
, vol.8
, pp. 1-4
-
-
Guion-Almeida, M.L.1
Richieri-Costa, A.2
-
11
-
-
0027967786
-
OEIS complex with craniofacial anomalies-defect of blastogenesis?
-
Haldar A, Sharma AK, Phadke SR, Jain A, Agarwal SS. OEIS complex with craniofacial anomalies-defect of blastogenesis? Am J Med Genet. 1994;53: 21-23.
-
(1994)
Am J Med Genet
, vol.53
, pp. 21-23
-
-
Haldar, A.1
Sharma, A.K.2
Phadke, S.R.3
Jain, A.4
Agarwal, S.S.5
-
12
-
-
3142666855
-
Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS)
-
Kallen K, Robert E, Castilla EE, Mastroiacovo P, Kallen B. Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS). Am J Med Genet. 2004;127A:26-34.
-
(2004)
Am J Med Genet
, vol.127 A
, pp. 26-34
-
-
Kallen, K.1
Robert, E.2
Castilla, E.E.3
Mastroiacovo, P.4
Kallen, B.5
-
13
-
-
18244364173
-
Hemifacial microsomia: Progress in understanding the genetic basis of a complex malformation syndrome
-
Kelberman D, Tyson J, Chandler DC, McInerney AM, Slee J, Albert D, Aymat A, Botma M, Calvert M, Goldblatt J, Haan EA, Laing NG, Lim J, Malcolm S, Singer SL, Winter RM, Bitner-Glindzicz M. Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. Hum Genet. 2001;109:638-645.
-
(2001)
Hum Genet
, vol.109
, pp. 638-645
-
-
Kelberman, D.1
Tyson, J.2
Chandler, D.C.3
McInerney, A.M.4
Slee, J.5
Albert, D.6
Aymat, A.7
Botma, M.8
Calvert, M.9
Goldblatt, J.10
Haan, E.A.11
Laing, N.G.12
Lim, J.13
Malcolm, S.14
Singer, S.L.15
Winter, R.M.16
Bitner-Glindzicz, M.17
-
14
-
-
0014722975
-
The syndrome of Goldenhar affecting two siblings
-
Krause VH. The syndrome of Goldenhar affecting two siblings. Acta Ophthalmol (Copenh). 1970;48:494-499.
-
(1970)
Acta Ophthalmol (Copenh)
, vol.48
, pp. 494-499
-
-
Krause, V.H.1
-
15
-
-
0034583692
-
A theory on the embryogenesis of oculo-auriculo-vertebral (Goldenhar) syndrome
-
Lam CH. A theory on the embryogenesis of oculo-auriculo-vertebral (Goldenhar) syndrome. J Craniofac Surg. 2000;11:547-552.
-
(2000)
J Craniofac Surg
, vol.11
, pp. 547-552
-
-
Lam, C.H.1
-
16
-
-
0004293174
-
-
New York: Churchill Livingstone
-
Larsen WJ. Human Embryology. New York: Churchill Livingstone; 1993.
-
(1993)
Human Embryology
-
-
Larsen, W.J.1
-
17
-
-
2442643033
-
Axial mesodermal dysplasia sequence: Autopsy findings
-
Merchant SN, Naimi TS, Khan A, Nadol JB Jr, Holmes LB. Axial mesodermal dysplasia sequence: autopsy findings. Clin Dysmorphol. 2004;13:21-24.
-
(2004)
Clin Dysmorphol
, vol.13
, pp. 21-24
-
-
Merchant, S.N.1
Naimi, T.S.2
Khan, A.3
Nadol Jr., J.B.4
Holmes, L.B.5
-
18
-
-
0019962350
-
Familial occurrence of hemifacial microsomia with radial limb defects
-
Moeschler J, Clarren SK. Familial occurrence of hemifacial microsomia with radial limb defects. Am J Med Genet. 1982;12:371-375.
-
(1982)
Am J Med Genet
, vol.12
, pp. 371-375
-
-
Moeschler, J.1
Clarren, S.K.2
-
19
-
-
0022939118
-
A patient with median cleft face anomaly and bilateral Goldenhar anomaly
-
Musarella MA, Young ID. A patient with median cleft face anomaly and bilateral Goldenhar anomaly. Am J Med Genet. 1986;2(suppl):135-141.
-
(1986)
Am J Med Genet
, vol.2
, Issue.SUPPL.
, pp. 135-141
-
-
Musarella, M.A.1
Young, I.D.2
-
20
-
-
4544321440
-
Severe abnormalities of the pons in two infants with goldenhar syndrome
-
Pane M, Baranello G, Battaglia D, Donvito V, Carnevale F, Stefanini MC, Guzzetta F, Mercuri E, Bertini E. Severe abnormalities of the pons in two infants with goldenhar syndrome. Neuropediatrics. 2004;35:234-238.
-
(2004)
Neuropediatrics
, vol.35
, pp. 234-238
-
-
Pane, M.1
Baranello, G.2
Battaglia, D.3
Donvito, V.4
Carnevale, F.5
Stefanini, M.C.6
Guzzetta, F.7
Mercuri, E.8
Bertini, E.9
-
21
-
-
0015593387
-
The pathogenesis of the first and second branchial arch syndrome
-
Poswillo D. The pathogenesis of the first and second branchial arch syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1973;35:302-329.
-
(1973)
Oral Surg Oral Med Oral Pathol Oral Radiol Endod
, vol.35
, pp. 302-329
-
-
Poswillo, D.1
-
22
-
-
0022939348
-
Hemifacial microsomia, ipsilateral facial palsy, and malformed auricle in two families: An autosomal dominant malformation
-
Robinow M, Reynolds JF, Fitzgerald J, Bryant JA. Hemifacial microsomia, ipsilateral facial palsy, and malformed auricle in two families: an autosomal dominant malformation. Am J Med Genet. 1986;2(suppl):129-133.
-
(1986)
Am J Med Genet
, vol.2
, Issue.SUPPL.
, pp. 129-133
-
-
Robinow, M.1
Reynolds, J.F.2
Fitzgerald, J.3
Bryant, J.A.4
-
23
-
-
0020631024
-
Hemifacial microsomia and variants: Pedigree data
-
Rollnick BR, Kaye CI. Hemifacial microsomia and variants: pedigree data. Am J Med Genet. 1983;15:233-253.
-
(1983)
Am J Med Genet
, vol.15
, pp. 233-253
-
-
Rollnick, B.R.1
Kaye, C.I.2
-
24
-
-
0020965378
-
Congenital horizontal gaze paralysis and ear dysplasia - A syndrome
-
Safran AB, Roth A, Haenggeli CA. Congenital horizontal gaze paralysis and ear dysplasia - a syndrome. Ophthalmologica. 1983;187:157-160.
-
(1983)
Ophthalmologica
, vol.187
, pp. 157-160
-
-
Safran, A.B.1
Roth, A.2
Haenggeli, C.A.3
-
25
-
-
0028528390
-
Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports
-
Singer SL, Haan E, Slee J, Goldblatt J. Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports. Aust Dent J. 1994;39:287-291.
-
(1994)
Aust Dent J
, vol.39
, pp. 287-291
-
-
Singer, S.L.1
Haan, E.2
Slee, J.3
Goldblatt, J.4
-
26
-
-
0034468140
-
Oculo-auriculo-vertebral (Goldenhar) spectrum associated with pericentric inversion 9: Coincidental findings or etiologic factor?
-
Stanojevic M, Stipoljev F, Koprcina B, Kurjak A. Oculo-auriculo-vertebral (Goldenhar) spectrum associated with pericentric inversion 9: coincidental findings or etiologic factor? J Craniofac Genet Dev Biol. 2000;20:150-154.
-
(2000)
J Craniofac Genet Dev Biol
, vol.20
, pp. 150-154
-
-
Stanojevic, M.1
Stipoljev, F.2
Koprcina, B.3
Kurjak, A.4
-
28
-
-
12344335016
-
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients
-
Tiab L, d'Alleves Manzi V, Borruat FX, Munier F, Schorderet D. Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. Ophthalmic Genet. 2004;25:241-246.
-
(2004)
Ophthalmic Genet
, vol.25
, pp. 241-246
-
-
Tiab, L.1
D'Alleves Manzi, V.2
Borruat, F.X.3
Munier, F.4
Schorderet, D.5
-
29
-
-
0026457151
-
Oculo-auriculo-vertebral complex and uncommon associated anomalies: Report on 8 unrelated Brazilian patients
-
van Bever Y, van den Ende JJ, Richieri-Costa A. Oculo-auriculo-vertebral complex and uncommon associated anomalies: report on 8 unrelated Brazilian patients. Am J Med Genet. 1992;44:683-690.
-
(1992)
Am J Med Genet
, vol.44
, pp. 683-690
-
-
Bever, Y.1
Van Den Ende, J.J.2
Richieri-Costa, A.3
-
30
-
-
0029814260
-
Oculo-auriculo-vertebral spectrum and the CHARGE association: Clinical evidence for a common pathogenetic mechanism
-
Van Meter TD, Weaver DD. Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism. Clin Dysmorphol. 1996;5:187-196.
-
(1996)
Clin Dysmorphol
, vol.5
, pp. 187-196
-
-
Van Meter, T.D.1
Weaver, D.D.2
-
31
-
-
0026849494
-
Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome-a case report
-
Verma MJ, Faridi MM. Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome-a case report. Indian J Ophthalmol. 1992;40:61-62.
-
(1992)
Indian J Ophthalmol
, vol.40
, pp. 61-62
-
-
Verma, M.J.1
Faridi, M.M.2
-
32
-
-
0344826532
-
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
-
Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkaemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL, Engle EC. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet. 2003;35:318-321.
-
(2003)
Nat Genet
, vol.35
, pp. 318-321
-
-
Yamada, K.1
Andrews, C.2
Chan, W.M.3
McKeown, C.A.4
Magli, A.5
De Berardinis, T.6
Loewenstein, A.7
Lazar, M.8
O'Keefe, M.9
Letson, R.10
London, A.11
Ruttum, M.12
Matsumoto, N.13
Saito, N.14
Morris, L.15
Del Monte, M.16
Johnson, R.H.17
Uyama, E.18
Houtman, W.A.19
De Vries, B.20
Carlow, T.J.21
Hart, B.L.22
Krawiecki, N.23
Shoffner, J.24
Vogel, M.C.25
Katowitz, J.26
Goldstein, S.M.27
Levin, A.V.28
Sener, E.C.29
Ozturk, B.T.30
Akarsu, A.N.31
Brodsky, M.C.32
Hanisch, F.33
Cruse, R.P.34
Zubcov, A.A.35
Robb, R.M.36
Roggenkaemper, P.37
Gottlob, I.38
Kowal, L.39
Battu, R.40
Traboulsi, E.I.41
Franceschini, P.42
Newlin, A.43
Demer, J.L.44
Engle, E.C.45
more..
-
33
-
-
0030951351
-
Goldenhar complex: A further case with uncommon associated anomalies
-
Zelante L, Gasparini P, Castriota Scanderbeg A, Dimitri L, Criconia M, Gorlin RJ. Goldenhar complex: a further case with uncommon associated anomalies. Am J Med Genet. 1997;69:418-421.
-
(1997)
Am J Med Genet
, vol.69
, pp. 418-421
-
-
Zelante, L.1
Gasparini, P.2
Castriota Scanderbeg, A.3
Dimitri, L.4
Criconia, M.5
Gorlin, R.J.6
|