-
1
-
-
0019730904
-
Chorio-retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome
-
Tenconi R, Clementi M, Moschini GB, et al. Chorio-retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome. Clin Genet 1981;20(5): 347-351.
-
(1981)
Clin Genet
, vol.20
, Issue.5
, pp. 347-351
-
-
Tenconi, R.1
Clementi, M.2
Moschini, G.B.3
-
2
-
-
0029975724
-
Chorioretinal dysplasia-microcephaly-mental retardation syndrome: Another family with autosomal dominant inheritance
-
Hordijk R, Van De Logt F, Houtman WA, et al. Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance. Genet Couns 1996;7(2):113-122.
-
(1996)
Genet Couns
, vol.7
, Issue.2
, pp. 113-122
-
-
Hordijk, R.1
Van De Logt, F.2
Houtman, W.A.3
-
3
-
-
0027305960
-
Chorioretinal dysplasia-microcephaly-mental retardation syndrome: Report of an American family
-
Sadler LS, Robinson LK. Chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family. Am J Med Genet 1993;47(1):65-68.
-
(1993)
Am J Med Genet
, vol.47
, Issue.1
, pp. 65-68
-
-
Sadler, L.S.1
Robinson, L.K.2
-
4
-
-
0027981131
-
Chorioretinal dysplasia-microcephaly-mental retardation syndrome
-
Warburg M, Heuer HE. Chorioretinal dysplasia-microcephaly-mental retardation syndrome. Am J Med Genet 1994;52(1):117.
-
(1994)
Am J Med Genet
, vol.52
, Issue.1
, pp. 117
-
-
Warburg, M.1
Heuer, H.E.2
-
5
-
-
0035063072
-
Autosomal dominant microcephaly--lymphoedemachorioretinal dysplasia syndrome
-
Casteels I, Devriendt K, Van Cleynenbreugel H, et al. Autosomal dominant microcephaly--lymphoedemachorioretinal dysplasia syndrome. Br J Ophthalmol 2001;85(4):499-500.
-
(2001)
Br J Ophthalmol
, vol.85
, Issue.4
, pp. 499-500
-
-
Casteels, I.1
Devriendt, K.2
Van Cleynenbreugel, H.3
-
6
-
-
0036745302
-
An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration
-
Simonell F, Testa F, Nesti A, et al. An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration. J Pediatr Ophthalmol Strabismus 2002;39(5):288-292.
-
(2002)
J Pediatr Ophthalmol Strabismus
, vol.39
, Issue.5
, pp. 288-292
-
-
Simonell, F.1
Testa, F.2
Nesti, A.3
-
7
-
-
34249875684
-
Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype
-
Trzupek KM, Falk RE, Demer JL, et al. Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype. Am J Med Genet A 2007;143A(11):1218-1222.
-
(2007)
Am J Med Genet A
, vol.143 A
, Issue.11
, pp. 1218-1222
-
-
Trzupek, K.M.1
Falk, R.E.2
Demer, J.L.3
-
8
-
-
0031460809
-
Microcephaly with chorioretinopathy. A report of two dominant families and three sporadic cases
-
van Genderen MM, Schuil J, Meire FM. Microcephaly with chorioretinopathy. A report of two dominant families and three sporadic cases. Ophthalmic Genet 1997;18(4):199-207.
-
(1997)
Ophthalmic Genet
, vol.18
, Issue.4
, pp. 199-207
-
-
Van Genderen, M.M.1
Schuil, J.2
Meire, F.M.3
-
9
-
-
18744416962
-
Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic child
-
Nguyen TN, Der Kaloustian VM, Barsoum-Homsy M, et al. Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic child. Can J Ophthalmol 2005;40(2):195-199.
-
(2005)
Can J Ophthalmol
, vol.40
, Issue.2
, pp. 195-199
-
-
Nguyen, T.N.1
Der Kaloustian, V.M.2
Barsoum-Homsy, M.3
-
10
-
-
37649014348
-
Chorioretinopathy and microcephaly with normal development
-
Ahmadi H, Bradfield YS. Chorioretinopathy and microcephaly with normal development. Ophthalmic Genet 2007;28(4):210-215.
-
(2007)
Ophthalmic Genet
, vol.28
, Issue.4
, pp. 210-215
-
-
Ahmadi, H.1
Bradfield, Y.S.2
-
11
-
-
61849183228
-
Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: A case report and review of the literature
-
Eventov-Friedman S, Singer A, Shinwell ES. Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature. Acta Paediatr 2009; 98(4): 758-759.
-
(2009)
Acta Paediatr
, vol.98
, Issue.4
, pp. 758-759
-
-
Eventov-Friedman, S.1
Singer, A.2
Shinwell, E.S.3
-
12
-
-
0027945988
-
Microcephaly, lymphedema, and chorioretinal dysplasia: Report of two additional cases
-
Angle B, Holgado S, Burton BK, et al. Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases. Am J Med Genet 1994;53(2):99-101.
-
(1994)
Am J Med Genet
, vol.53
, Issue.2
, pp. 99-101
-
-
Angle, B.1
Holgado, S.2
Burton, B.K.3
-
13
-
-
0035213853
-
Lissencephaly with cerebellar hypoplasia (LCH): A heterogeneous group of cortical malformations
-
Ross ME, Swanson K, Dobyns WB. Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics 2001;32(5):256-263.
-
(2001)
Neuropediatrics
, vol.32
, Issue.5
, pp. 256-263
-
-
Ross, M.E.1
Swanson, K.2
Dobyns, W.B.3
-
14
-
-
0013913226
-
Chorioretinopathy with hereditary microcephaly
-
McKusick VA, Stauffer M, Knox DL, et al. Chorioretinopathy with hereditary microcephaly. Arch Ophthalmol 1966;75(5):597-600.
-
(1966)
Arch Ophthalmol
, vol.75
, Issue.5
, pp. 597-600
-
-
McKusick, V.A.1
Stauffer, M.2
Knox, D.L.3
-
15
-
-
0015354065
-
Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation
-
Mirhosseini SA, Holmes LB, Walton DS. Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation. J Med Genet 1972;9(2):193-196.
-
(1972)
J Med Genet
, vol.9
, Issue.2
, pp. 193-196
-
-
Mirhosseini, S.A.1
Holmes, L.B.2
Walton, D.S.3
-
16
-
-
0017352456
-
Autosomal recessive microcephaly associated with chorioretinopathy
-
Cantu JM, Rojas JA, Garcia-Cruz D, et al. Autosomal recessive microcephaly associated with chorioretinopathy. Hum Genet 1977;36(2):243-247.
-
(1977)
Hum Genet
, vol.36
, Issue.2
, pp. 243-247
-
-
Cantu, J.M.1
Rojas, J.A.2
Garcia-Cruz, D.3
-
17
-
-
0019425448
-
Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome
-
Jarmas AL, Weaver DD, Ellis FD, et al. Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome. Am J Dis Child 1981;135(10):930-933.
-
(1981)
Am J Dis Child
, vol.135
, Issue.10
, pp. 930-933
-
-
Jarmas, A.L.1
Weaver, D.D.2
Ellis, F.D.3
-
18
-
-
0021358419
-
A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia
-
Parke JT, Riccardi VM, Lewis RA, et al. A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia. Am J Med Genet 1984;17(3):585-594.
-
(1984)
Am J Med Genet
, vol.17
, Issue.3
, pp. 585-594
-
-
Parke, J.T.1
Riccardi, V.M.2
Lewis, R.A.3
-
19
-
-
0022222065
-
The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): Report of two patients
-
Mendez HM, Paskulin GA, Vallandro C. The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes- Walton syndrome): report of two patients. Am J Med Genet 1985;22(2):223-228.
-
(1985)
Am J Med Genet
, vol.22
, Issue.2
, pp. 223-228
-
-
Mendez, H.M.1
Paskulin, G.A.2
Vallandro, C.3
-
20
-
-
0023152488
-
Microcephaly, microphthalmos, and retinal folds: Report of a family
-
Young ID, Fielder AR, Simpson K. Microcephaly, microphthalmos, and retinal folds: report of a family. J Med Genet 1987;24(3):172-174.
-
(1987)
J Med Genet
, vol.24
, Issue.3
, pp. 172-174
-
-
Young, I.D.1
Fielder, A.R.2
Simpson, K.3
-
21
-
-
0025266231
-
Electroretinograms in microcephaly with chorioretinal degeneration
-
Manning FJ, Bruce AM, Berson EL. Electroretinograms in microcephaly with chorioretinal degeneration. Am J Ophthalmol 1990;109(4):457-463.
-
(1990)
Am J Ophthalmol
, vol.109
, Issue.4
, pp. 457-463
-
-
Manning, F.J.1
Bruce, A.M.2
Berson, E.L.3
-
22
-
-
0026665918
-
Microcephaly, lymphedema, and chorioretinal dysplasia: A distinct syndrome?
-
Feingold M, Bartoshesky L. Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome? Am J Med Genet 1992;43(6):1030-1031.
-
(1992)
Am J Med Genet
, vol.43
, Issue.6
, pp. 1030-1031
-
-
Feingold, M.1
Bartoshesky, L.2
-
23
-
-
0029047520
-
On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association
-
Fryns JP, Smeets E, Van Den Berghe H. On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association. Clin Genet 1995;48(3):131-133.
-
(1995)
Clin Genet
, vol.48
, Issue.3
, pp. 131-133
-
-
Fryns, J.P.1
Smeets, E.2
Van Den Berghe, H.3
-
24
-
-
0030059072
-
The microcephaly-lymphoedema syndrome: Report of an additional family
-
Kozma C, Scribanu N, Gersh E. The microcephaly-lymphoedema syndrome: report of an additional family. Clin Dysmorphol 1996;5(1):49-54.
-
(1996)
Clin Dysmorphol
, vol.5
, Issue.1
, pp. 49-54
-
-
Kozma, C.1
Scribanu, N.2
Gersh, E.3
-
25
-
-
0032829238
-
Microcephaly-lymphedema-chorioretinal dysplasia: A unique genetic syndrome with variable expression and possible characteristic facial appearance
-
Limwongse C, Wyszynski RE, Dickerman LH, et al. Microcephaly-lymphedema- chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance. Am J Med Genet 1999;86(3):215-218.
-
(1999)
Am J Med Genet
, vol.86
, Issue.3
, pp. 215-218
-
-
Limwongse, C.1
Wyszynski, R.E.2
Dickerman, L.H.3
-
26
-
-
0034684731
-
Microcephaly with chorioretinal dysplasia: Characteristic facial features
-
Abdel-Salam GM, Czeizel AE, Vogt G, et al. Microcephaly with chorioretinal dysplasia: characteristic facial features. Am J Med Genet 2000;95(5):513-515.
-
(2000)
Am J Med Genet
, vol.95
, Issue.5
, pp. 513-515
-
-
Abdel-Salam, G.M.1
Czeizel, A.E.2
Vogt, G.3
-
27
-
-
27744491289
-
Microcephalylymphoedema-chorioretinal-dysplasia syndrome with atrial septal defect
-
Strauss RM, Ferguson AD, Rittey CD, et al. Microcephalylymphoedema- chorioretinal-dysplasia syndrome with atrial septal defect. Pediatr Dermatol 2005;22(4):373-374.
-
(2005)
Pediatr Dermatol
, vol.22
, Issue.4
, pp. 373-374
-
-
Strauss, R.M.1
Ferguson, A.D.2
Rittey, C.D.3
-
28
-
-
21244505424
-
Microcephaly-lymphoedema-chorioretinal dysplasia: Three cases to delineate the facial phenotype and review of the literature
-
Vasudevan PC, Garcia-Minaur S, Botella MP, et al. Microcephaly- lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature. Clin Dysmorphol 2005;14(3):109-116.
-
(2005)
Clin Dysmorphol
, vol.14
, Issue.3
, pp. 109-116
-
-
Vasudevan, P.C.1
Garcia-Minaur, S.2
Botella, M.P.3
-
29
-
-
61849183228
-
Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: A case report and review of the literature
-
Eventov-Friedman S, Singer A, Shinwell ES. Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature. Acta Paediatr 2009;98(4):758-759.
-
(2009)
Acta Paediatr
, vol.98
, Issue.4
, pp. 758-759
-
-
Eventov-Friedman, S.1
Singer, A.2
Shinwell, E.S.3
-
30
-
-
35548954131
-
Microcephaly syndromes
-
Abuelo D. Microcephaly syndromes. Semin Pediatr Neurol 2007;14(3):118-127.
-
(2007)
Semin Pediatr Neurol
, vol.14
, Issue.3
, pp. 118-127
-
-
Abuelo, D.1
-
31
-
-
0035956478
-
Classification system for malformations of cortical development: Update 2001
-
Barkovich AJ, Kuzniecky RI, Jackson GD, et al. Classification system for malformations of cortical development: update 2001. Neurology 2001;57(12):2168-2178.
-
(2001)
Neurology
, vol.57
, Issue.12
, pp. 2168-2178
-
-
Barkovich, A.J.1
Kuzniecky, R.I.2
Jackson, G.D.3
-
32
-
-
0035066971
-
Molecular genetics of human microcephaly
-
Mochida GH, Walsh CA. Molecular genetics of human microcephaly. Curr Opin Neurol 2001;14(2):151-156.
-
(2001)
Curr Opin Neurol
, vol.14
, Issue.2
, pp. 151-156
-
-
Mochida, G.H.1
Walsh, C.A.2
-
33
-
-
0037390829
-
Lissencephaly and the molecular basis of neuronal migration
-
Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 2003;12 Spec No 1:R89-96.
-
(2003)
Hum Mol Genet
, vol.12
, Issue.SPEC. NO. 1
-
-
Kato, M.1
Dobyns, W.B.2
-
35
-
-
20044383749
-
Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: The key questions answered
-
Leventer RJ. Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered. Journal of Child Neurology 2005;20(4):307-312.
-
(2005)
Journal of Child Neurology
, vol.20
, Issue.4
, pp. 307-312
-
-
Leventer, R.J.1
-
36
-
-
34249873778
-
Lissencephalies: Aspects cliniques et genetiques
-
Verloes A, Elmaleh M, Gonzales M, et al. Lissencephalies: aspects cliniques et genetiques. Revue Neurologique 2007;163(5):533-547.
-
(2007)
Revue Neurologique
, vol.163
, Issue.5
, pp. 533-547
-
-
Verloes, A.1
Elmaleh, M.2
Gonzales, M.3
-
37
-
-
0033595252
-
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly
-
Dobyns WB, Truwit CL, Ross ME, et al. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 1999;53(2):270-277.
-
(1999)
Neurology
, vol.53
, Issue.2
, pp. 270-277
-
-
Dobyns, W.B.1
Truwit, C.L.2
Ross, M.E.3
|