-
1
-
-
0029065179
-
Outcome of Sturge-Weber syndrome in 52 adults
-
Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet 1995;57:35-45.
-
(1995)
Am J Med Genet
, vol.57
, pp. 35-45
-
-
Sujansky, E.1
Conradi, S.2
-
2
-
-
0023677776
-
Prognosis in Sturge-Weber disease: Comparison of unihemispheric and bihemispheric involvement
-
Bebin EM, Gomez MR. Prognosis in Sturge-Weber disease: comparison of unihemispheric and bihemispheric involvement. J Child Neurol 1988;3:181-4.
-
(1988)
J Child Neurol
, vol.3
, pp. 181-184
-
-
Bebin, E.M.1
Gomez, M.R.2
-
3
-
-
0027525945
-
Magnetic resonance imaging. Its role in the neuroradiologic evaluation of neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome
-
Truhan AP, Filipek PA. Magnetic resonance imaging. Its role in the neuroradiologic evaluation of neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome. Arch Dematol 1993;129:219-26.
-
(1993)
Arch Dematol
, vol.129
, pp. 219-226
-
-
Truhan, A.P.1
Filipek, P.A.2
-
4
-
-
0038520329
-
Sturge-Weber syndrome. Encephalotrigeminal angiomatosis
-
Gold DH, Weingeist TA, editors. Philadelphia: J B Lippincott
-
Tripathi BJ, Tripathi RC, Cibis GW. Sturge-Weber syndrome. Encephalotrigeminal angiomatosis. In: Gold DH, Weingeist TA, editors. The eye in systemic disease. Philadelphia: J B Lippincott, 1990:443-7.
-
(1990)
The Eye in Systemic Disease
, pp. 443-447
-
-
Tripathi, B.J.1
Tripathi, R.C.2
Cibis, G.W.3
-
5
-
-
0028842234
-
Sturge-Weber syndrome: Age of onset of seizures and glaucoma and the prognosis for affected children
-
Sujansky E, Conradi S. Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol 1995;10:49-58.
-
(1995)
J Child Neurol
, vol.10
, pp. 49-58
-
-
Sujansky, E.1
Conradi, S.2
-
7
-
-
0018523994
-
Przyoadel dziedziczenia zespolu Sturge'a-Webera
-
Debicka A, Adamczak P. Przyoadel dziedziczenia zespolu Sturge'a-Webera. Klin Oczna 1979;81:541-2.
-
(1979)
Klin Oczna
, vol.81
, pp. 541-542
-
-
Debicka, A.1
Adamczak, P.2
-
8
-
-
0021807948
-
Facial port-wine stains and Sturge-Weber syndrome
-
Enjolras O, Riche MC, Merland JJ. Facial port-wine stains and Sturge-Weber syndrome. Pediatrics 1985;76:48-51.
-
(1985)
Pediatrics
, vol.76
, pp. 48-51
-
-
Enjolras, O.1
Riche, M.C.2
Merland, J.J.3
-
9
-
-
84899772748
-
Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17
-
Barker D, Wright E, Nguyent K, et al. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 1987;49:589-94.
-
(1987)
Science
, vol.49
, pp. 589-594
-
-
Barker, D.1
Wright, E.2
Nguyent, K.3
-
10
-
-
0022495380
-
Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma
-
Seizinger BR, Martuza RL, Gusella JF. Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature 1986;322:644-7.
-
(1986)
Nature
, vol.322
, pp. 644-647
-
-
Seizinger, B.R.1
Martuza, R.L.2
Gusella, J.F.3
-
11
-
-
0025455386
-
NIH Conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis): An update
-
Mulvihill JJ, Parry DM, Sherman JL, Pikus A, Kaiser-Kupfer MI. NIH Conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis): an update. Ann Intern Med 1990;113:39-52.
-
(1990)
Ann Intern Med
, vol.113
, pp. 39-52
-
-
Mulvihill, J.J.1
Parry, D.M.2
Sherman, J.L.3
Pikus, A.4
Kaiser-Kupfer, M.I.5
-
12
-
-
0023109969
-
Ophthalmic manifestations of neurofibromatosis
-
Huson S, Jones D, Beck L. Ophthalmic manifestations of neurofibromatosis. Br J Ophthalmol 1987;71:235-8.
-
(1987)
Br J Ophthalmol
, vol.71
, pp. 235-238
-
-
Huson, S.1
Jones, D.2
Beck, L.3
-
13
-
-
0345609763
-
Further diagnostic thoughts about the Elephant Man
-
Cohen MM Jr. Further diagnostic thoughts about the Elephant Man. Am J Med Genet 1988;29:777-82.
-
(1988)
Am J Med Genet
, vol.29
, pp. 777-782
-
-
Cohen Jr., M.M.1
-
14
-
-
0025297599
-
Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients
-
Wallace MR, Marchuk DA, Andersen LB, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990;249:181-6.
-
(1990)
Science
, vol.249
, pp. 181-186
-
-
Wallace, M.R.1
Marchuk, D.A.2
Andersen, L.B.3
-
15
-
-
0025201012
-
The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins
-
Ballester R, Marchuk D, Boguski M, Saulino A, Letcher R, et al. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 1990;63:851-9.
-
(1990)
Cell
, vol.63
, pp. 851-859
-
-
Ballester, R.1
Marchuk, D.2
Boguski, M.3
Saulino, A.4
Letcher, R.5
-
16
-
-
0025251137
-
The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21
-
Martin GA, Viskochil D, Bollag G, McCabe PC, Crosier WJ, et al. The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell 1990;63:843-9.
-
(1990)
Cell
, vol.63
, pp. 843-849
-
-
Martin, G.A.1
Viskochil, D.2
Bollag, G.3
McCabe, P.C.4
Crosier, W.J.5
-
17
-
-
0025091465
-
The neurofibromatosis type 1 gene encodes a protein related to GAP
-
Xu G, O'Connell P, Viskochil D, Cawthon R, Robertson M, et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 1990;62:599-608.
-
(1990)
Cell
, vol.62
, pp. 599-608
-
-
Xu, G.1
O'Connell, P.2
Viskochil, D.3
Cawthon, R.4
Robertson, M.5
-
18
-
-
0028349997
-
Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues
-
Brannan CI, Perkins AS, Vogel KS, Ratner N, Nordlund ML, et al. Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev 1994;8:1019-29.
-
(1994)
Genes Dev
, vol.8
, pp. 1019-1029
-
-
Brannan, C.I.1
Perkins, A.S.2
Vogel, K.S.3
Ratner, N.4
Nordlund, M.L.5
-
19
-
-
0027468594
-
Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis
-
Legius E, Marchuk DA, Collins FS, Glover TW. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nature Genet 1993;3:122-6.
-
(1993)
Nature Genet
, vol.3
, pp. 122-126
-
-
Legius, E.1
Marchuk, D.A.2
Collins, F.S.3
Glover, T.W.4
-
20
-
-
0026521070
-
Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients
-
Basu TN, Gutmann DH, Fletcher JA, et al. Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature 1992;356:713-5.
-
(1992)
Nature
, vol.356
, pp. 713-715
-
-
Basu, T.N.1
Gutmann, D.H.2
Fletcher, J.A.3
-
22
-
-
0028865482
-
Frequent disruption of the NF1 gene by a novel murine AIDS virus-related provirus in BXH-2 murine myeloid lymphomas
-
Cho BC, Shaughnessy JD Jr, Largaespada DA, Bedigian HG, Buchberg AM, et al. Frequent disruption of the NF1 gene by a novel murine AIDS virus-related provirus in BXH-2 murine myeloid lymphomas. J Virol 1995;69: 7138-46.
-
(1995)
J Virol
, vol.69
, pp. 7138-7146
-
-
Cho, B.C.1
Shaughnessy Jr., J.D.2
Largaespada, D.A.3
Bedigian, H.G.4
Buchberg, A.M.5
-
23
-
-
0026319619
-
cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product
-
Marchuk DA, Saulino AM, Favakkol R, et al. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics 1991;11: 931-40.
-
(1991)
Genomics
, vol.11
, pp. 931-940
-
-
Marchuk, D.A.1
Saulino, A.M.2
Favakkol, R.3
-
24
-
-
0030062955
-
RAS-GTP levels are elevated in human NF1 peripheral nerve tumors
-
Gahu A, Lau N, Huvar I, Gutmann D, Provias J, et al. RAS-GTP levels are elevated in human NF1 peripheral nerve tumors. Oncogene 1996;12:507-13.
-
(1996)
Oncogene
, vol.12
, pp. 507-513
-
-
Gahu, A.1
Lau, N.2
Huvar, I.3
Gutmann, D.4
Provias, J.5
-
26
-
-
0025780420
-
Ataxia-telangiectasia: An interdisciplinary approach to pathogenesis
-
Gatti RA, Boder E, Vinters HV, Sparkes RS, Norman A, et al. Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine 1991;70:99-117.
-
(1991)
Medicine
, vol.70
, pp. 99-117
-
-
Gatti, R.A.1
Boder, E.2
Vinters, H.V.3
Sparkes, R.S.4
Norman, A.5
-
27
-
-
0005183045
-
Ataxia-telangiectasia
-
Gomez MR, editor. London: Butterworths
-
Boder E. Ataxia-telangiectasia. In: Gomez MR, editor. Neurocutaneous diseases: a practical approach. London: Butterworths, 1987;95-117.
-
(1987)
Neurocutaneous Diseases: A Practical Approach
, pp. 95-117
-
-
Boder, E.1
-
28
-
-
0028575693
-
Cancer risks in A-T heterozygotes
-
Easton DF. Cancer risks in A-T heterozygotes. Int J Radiat Biol 1994;66:S177-82.
-
(1994)
Int J Radiat Biol
, vol.66
-
-
Easton, D.F.1
-
29
-
-
0029946362
-
Breast cancer-predisposing genes: Their discovery marks a turning point in deciphering a complex disease
-
Paterson MC. Breast cancer-predisposing genes: their discovery marks a turning point in deciphering a complex disease. Ann Saudi Med 1996;16:243-8.
-
(1996)
Ann Saudi Med
, vol.16
, pp. 243-248
-
-
Paterson, M.C.1
-
30
-
-
0030049418
-
Mutations revealed by sequencing the 5' half of the gene for ataxia-telangiectasia
-
Byrd PJ, McConville CM, Cooper P, Parkhill J, Stankovic T, et al. Mutations revealed by sequencing the 5' half of the gene for ataxia-telangiectasia. Hum Mol Genet 1996;5: 145-9.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 145-149
-
-
Byrd, P.J.1
McConville, C.M.2
Cooper, P.3
Parkhill, J.4
Stankovic, T.5
-
31
-
-
0026409331
-
Incidence of cancer in 161 families affected by ataxia-telangiectasia
-
Swift M, Morrell D, Massey RBM, et al. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 1991;325:1831-6.
-
(1991)
N Engl J Med
, vol.325
, pp. 1831-1836
-
-
Swift, M.1
Morrell, D.2
Massey, R.B.M.3
-
32
-
-
0023148873
-
Ataxia-telangiectasia: An inherited disorder of ionizing-radiation sensitivity in man
-
McKinnon PJ. Ataxia-telangiectasia: an inherited disorder of ionizing-radiation sensitivity in man. Hum Genet 1987; 75:197-208.
-
(1987)
Hum Genet
, vol.75
, pp. 197-208
-
-
McKinnon, P.J.1
-
33
-
-
0018622263
-
Ataxia-telangiectasia - An inherited human disorder involving hypersensitivity to ionizing radiation and related DNA-damaging chemicals
-
Paterson MC, Smith PJ. Ataxia-telangiectasia - an inherited human disorder involving hypersensitivity to ionizing radiation and related DNA-damaging chemicals. Annu Rev Genet 1979;13:291-318.
-
(1979)
Annu Rev Genet
, vol.13
, pp. 291-318
-
-
Paterson, M.C.1
Smith, P.J.2
-
34
-
-
0029002103
-
Ataxia-telangiectasia: Closer to unravelling the mystery
-
Shiloh Y. Ataxia-telangiectasia: closer to unravelling the mystery. Eur J Hum Genet 1995;3:116-38.
-
(1995)
Eur J Hum Genet
, vol.3
, pp. 116-138
-
-
Shiloh, Y.1
-
35
-
-
0009529942
-
Biochemical defects in ataxia-telangiectasia
-
Gatti RA, Painter RB, editors. Berlin: Springer-Verlag
-
Lavin MF. Biochemical defects in ataxia-telangiectasia. In: Gatti RA, Painter RB, editors. Ataxia-telangiectasia. Vol H77 of NATO ASI series. Berlin: Springer-Verlag, 1993:235-55.
-
(1993)
Ataxia-telangiectasia. Vol H77 of NATO ASI Series
, vol.H77
, pp. 235-255
-
-
Lavin, M.F.1
-
36
-
-
0028269782
-
Ionizing radiation and cell cycle progression in ataxia-telangiectasia
-
Beamish H, Khanna KK, Lavin MF. Ionizing radiation and cell cycle progression in ataxia-telangiectasia. Radiat Res 1994;138(suppl):S130-3.
-
(1994)
Radiat Res
, vol.138
, Issue.SUPPL.
-
-
Beamish, H.1
Khanna, K.K.2
Lavin, M.F.3
-
37
-
-
0028568315
-
Cell cycle control and cancer
-
Hartwell LH, Kastan MB. Cell cycle control and cancer. Science 1994;266:1821-8.
-
(1994)
Science
, vol.266
, pp. 1821-1828
-
-
Hartwell, L.H.1
Kastan, M.B.2
-
38
-
-
0029057336
-
A single ataxia-telangiectasia gene with a product similar to PI-3 kinase
-
Savitsky K, Bar-Shira A, Gilad S, et al. A single ataxia-telangiectasia gene with a product similar to PI-3 kinase. Science 1995;268:1749-53.
-
(1995)
Science
, vol.268
, pp. 1749-1753
-
-
Savitsky, K.1
Bar-Shira, A.2
Gilad, S.3
-
39
-
-
0024205754
-
Localisation of an ataxia-telangiectasia gene to chromosome 11q22-23
-
Gatti RA, Berkel I, Boder E, et al. Localisation of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 1988;336:577-80.
-
(1988)
Nature
, vol.336
, pp. 577-580
-
-
Gatti, R.A.1
Berkel, I.2
Boder, E.3
-
40
-
-
0029127643
-
ATM-related genes: What do they tell us about functions of the human gene?
-
Zakian VA. ATM-related genes: What do they tell us about functions of the human gene? Cell 1995;82:685-7.
-
(1995)
Cell
, vol.82
, pp. 685-687
-
-
Zakian, V.A.1
-
41
-
-
0024493153
-
Von Hippel-Lindau disease affecting 43 members of a single kindred
-
Lamiell JM, Salazar FG, Hsia YE. Von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine 1989;68:1-29.
-
(1989)
Medicine
, vol.68
, pp. 1-29
-
-
Lamiell, J.M.1
Salazar, F.G.2
Hsia, Y.E.3
-
42
-
-
0025000210
-
Clinical features and natural history of von Hippel-Lindau disease
-
Maher ER, Yates JRW, Harris R, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med 1990;77:1151-63.
-
(1990)
Q J Med
, vol.77
, pp. 1151-1163
-
-
Maher, E.R.1
Yates, J.R.W.2
Harris, R.3
-
44
-
-
0028874469
-
Clinical features and molecular genetics of von Hippel-Lindau disease
-
Maher ER, Webster AR, Moore AT. Clinical features and molecular genetics of von Hippel-Lindau disease. Ophthalmic Pediatr Genet 1995;16:79-84.
-
(1995)
Ophthalmic Pediatr Genet
, vol.16
, pp. 79-84
-
-
Maher, E.R.1
Webster, A.R.2
Moore, A.T.3
-
45
-
-
0017145711
-
Pheochromocytoma and von Hippel-Lindau's disease
-
Lowden BA, Harris GS. Pheochromocytoma and von Hippel-Lindau's disease. Can J Ophthalmol 1976;11: 282-9.
-
(1976)
Can J Ophthalmol
, vol.11
, pp. 282-289
-
-
Lowden, B.A.1
Harris, G.S.2
-
46
-
-
1842271279
-
Phakomatoses
-
Tasman W, editor. chapt 34. Philadelphia: J B Lippincott
-
Palena PV, Augsburger JJ. Phakomatoses. In: Tasman W, editor. Duane's clinical ophthalmology. Vol 3, chapt 34. Philadelphia: J B Lippincott, 1995:1-12.
-
(1995)
Duane's Clinical Ophthalmology
, vol.3
, pp. 1-12
-
-
Palena, P.V.1
Augsburger, J.J.2
-
47
-
-
0022828267
-
Retinal angiomatosis: The ocular manifestations of von Hippel-Lindau disease
-
Ridley M, Green J, Johnson G. Retinal angiomatosis: the ocular manifestations of von Hippel-Lindau disease. Can J Ophthalmol 1986;21:276-83.
-
(1986)
Can J Ophthalmol
, vol.21
, pp. 276-283
-
-
Ridley, M.1
Green, J.2
Johnson, G.3
-
48
-
-
84966142620
-
Ophthalmological screening for von Hippel-Lindau disease
-
Moore AT, Maher ER, Rosen P, et al. Ophthalmological screening for von Hippel-Lindau disease. Eye 1991;5: 723-8.
-
(1991)
Eye
, vol.5
, pp. 723-728
-
-
Moore, A.T.1
Maher, E.R.2
Rosen, P.3
-
49
-
-
0023865666
-
Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma
-
Seizinger BR, Rouleau GA, Ozelius LF, et al. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature 1988;332: 268-9.
-
(1988)
Nature
, vol.332
, pp. 268-269
-
-
Seizinger, B.R.1
Rouleau, G.A.2
Ozelius, L.F.3
-
50
-
-
0027240519
-
Identification of the von Hippel-Lindau disease tumor suppressor gene
-
Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993;260:1317-20.
-
(1993)
Science
, vol.260
, pp. 1317-1320
-
-
Latif, F.1
Tory, K.2
Gnarra, J.3
-
51
-
-
0028030581
-
Identification of intragenic mutations in the von Hippel-Lindau disease tumor suppressor gene and correlation with disease phenotype
-
Crossey PA, Richards FM, Foster K, et al. Identification of intragenic mutations in the von Hippel-Lindau disease tumor suppressor gene and correlation with disease phenotype. Hum Mol Genet 1994;3:1303-8.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1303-1308
-
-
Crossey, P.A.1
Richards, F.M.2
Foster, K.3
-
52
-
-
0028981766
-
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype
-
Chen F, Kishida T, Yao M, et al. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat 1995;5:66-75.
-
(1995)
Hum Mutat
, vol.5
, pp. 66-75
-
-
Chen, F.1
Kishida, T.2
Yao, M.3
-
53
-
-
0026542913
-
Screening for von Hippel-Lindau disease by DNA polymorphism analysis
-
Glenn GM, Linehan WM, Hosoe S, et al. Screening for von Hippel-Lindau disease by DNA polymorphism analysis. JAMA 1992;267:1226-31.
-
(1992)
JAMA
, vol.267
, pp. 1226-1231
-
-
Glenn, G.M.1
Linehan, W.M.2
Hosoe, S.3
-
54
-
-
0027064978
-
Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers
-
Maher ER, Bentley E, Payne SJ, et al. Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers. J Med Genet l992;29:902-5.
-
(1992)
J Med Genet
, vol.29
, pp. 902-905
-
-
Maher, E.R.1
Bentley, E.2
Payne, S.J.3
-
56
-
-
84899773297
-
The phakomatoses
-
Peyman GA, Sanders DR, Goldberg MF, editors. Philadelphia: W B Saunders Company
-
Asdourian GK, Lewis RA. The phakomatoses. In: Peyman GA, Sanders DR, Goldberg MF, editors. Principles and practice of ophthalmology. Philadelphia: W B Saunders Company, 1980:1186-1204.
-
(1980)
Principles and Practice of Ophthalmology
, pp. 1186-1204
-
-
Asdourian, G.K.1
Lewis, R.A.2
-
57
-
-
0018724770
-
Demyelination of the brain in tuberous sclerosis: Computed tomography evidence
-
Garrick R, Gomez MR, Houser OW. Demyelination of the brain in tuberous sclerosis: computed tomography evidence. Mayo Clin Proc 1979;54:685-9.
-
(1979)
Mayo Clin Proc
, vol.54
, pp. 685-689
-
-
Garrick, R.1
Gomez, M.R.2
Houser, O.W.3
-
58
-
-
0026844336
-
Report of the diagnostic criteria committee of the National Tuberous Sclerosis Association
-
Roach ES, Smith M, Juttenlocher P, Bhat M, Alcorn D, et al. Report of the diagnostic criteria committee of the National Tuberous Sclerosis Association. J Child Neurol 1992;7:221-4.
-
(1992)
J Child Neurol
, vol.7
, pp. 221-224
-
-
Roach, E.S.1
Smith, M.2
Juttenlocher, P.3
Bhat, M.4
Alcorn, D.5
-
59
-
-
84899783170
-
Ophthalmic findings
-
Gomez MR, editor. New York: Raven Press
-
Robertson DM. Ophthalmic findings. In: Gomez MR, editor. Tuberous sclerosis. 2nd ed. New York: Raven Press, 1988:89-109.
-
(1988)
Tuberous Sclerosis. 2nd Ed.
, pp. 89-109
-
-
Robertson, D.M.1
-
60
-
-
0028952621
-
Long-term observation of retinal lesions in tuberous sclerosis
-
Zimmer-Galler IE, Robertson DM. Long-term observation of retinal lesions in tuberous sclerosis. Am J Ophthalmol 1995;119:318-24.
-
(1995)
Am J Ophthalmol
, vol.119
, pp. 318-324
-
-
Zimmer-Galler, I.E.1
Robertson, D.M.2
-
61
-
-
0027051372
-
Linkage investigation of three putative tuberous sclerosis determining loci on chromosome 9q, 11q and 12q
-
Sampson JR, Janssen JAJ, Sandkuijl LA, and Tuberous Sclerosis Collaborative Group. Linkage investigation of three putative tuberous sclerosis determining loci on chromosome 9q, 11q and 12q. J Med Genet 1992;29: 861-6.
-
(1992)
J Med Genet
, vol.29
, pp. 861-866
-
-
Sampson, J.R.1
Janssen, J.A.J.2
Sandkuijl, L.A.3
-
62
-
-
0028168936
-
Two loci for tuberous sclerosis: One on 9q34 and one on 16q13
-
Povey S, Burley MW, Attwood J, et al. Two loci for tuberous sclerosis: one on 9q34 and one on 16q13. Ann Hum Genet 1994;58:107-24.
-
(1994)
Ann Hum Genet
, vol.58
, pp. 107-124
-
-
Povey, S.1
Burley, M.W.2
Attwood, J.3
-
63
-
-
0026922021
-
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease
-
Kandt RS, Haines JL, Smith M, Northrup H, Gardner RJM, et al. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nature Genet 1992;2:37-41.
-
(1992)
Nature Genet
, vol.2
, pp. 37-41
-
-
Kandt, R.S.1
Haines, J.L.2
Smith, M.3
Northrup, H.4
Gardner, R.J.M.5
-
64
-
-
0027770784
-
Identification and characterization of the tuberous sclerosis gene on chromosome 16
-
European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993;75:1305-15.
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
65
-
-
0027992456
-
9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene
-
Carbonara C, Longa L, Grosso E, Borrone C, Garrè MG, et al. 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene. Hum Mol Genet 1994;3:1829-32.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1829-1832
-
-
Carbonara, C.1
Longa, L.2
Grosso, E.3
Borrone, C.4
Garrè, M.G.5
-
66
-
-
0030041515
-
Clonality of tuberous sclerosis hamartomas shown by non-random X chromosome inactivation
-
Green AJ, Sepp T, Yates JRW. Clonality of tuberous sclerosis hamartomas shown by non-random X chromosome inactivation. Hum Genet 1996;97:240-3.
-
(1996)
Hum Genet
, vol.97
, pp. 240-243
-
-
Green, A.J.1
Sepp, T.2
Yates, J.R.W.3
-
67
-
-
0029021621
-
Identification of tuberin, the tuberous sclerosis-2 product
-
Wienecke R, König A, DeClue JE. Identification of tuberin, the tuberous sclerosis-2 product. J Biol Chem 1995;270:16409-14.
-
(1995)
J Biol Chem
, vol.270
, pp. 16409-16414
-
-
Wienecke, R.1
König, A.2
DeClue, J.E.3
-
68
-
-
0021857470
-
Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982
-
Weiderholt WC, Gomez MR, Kurland LT. Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982. Neurology 1985;35:600-3.
-
(1985)
Neurology
, vol.35
, pp. 600-603
-
-
Weiderholt, W.C.1
Gomez, M.R.2
Kurland, L.T.3
-
70
-
-
0028866794
-
Mutation analysis of the TSC2 gene in an African-American family
-
Kumar A, Kandt RS, Wolpert C, Roses AD, Pericak-Vance MA, et al. Mutation analysis of the TSC2 gene in an African-American family. Hum Mol Genet 1995;4: 2295-8.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2295-2298
-
-
Kumar, A.1
Kandt, R.S.2
Wolpert, C.3
Roses, A.D.4
Pericak-Vance, M.A.5
-
71
-
-
0029147142
-
A de novo frame-shift mutation in the tuberin gene
-
Kumar A, Wolpert C, Kandt RS, Segal J, Pufky J, et al. A de novo frame-shift mutation in the tuberin gene. Hum Mol Genet 1995;4:1471-2.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1471-1472
-
-
Kumar, A.1
Wolpert, C.2
Kandt, R.S.3
Segal, J.4
Pufky, J.5
-
72
-
-
19144372534
-
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex
-
Vrtel R, Verhoef S, Bouman K, Maheshwar MM, Nellist M, et al. Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. J Med Genet 1996;33: 47-51.
-
(1996)
J Med Genet
, vol.33
, pp. 47-51
-
-
Vrtel, R.1
Verhoef, S.2
Bouman, K.3
Maheshwar, M.M.4
Nellist, M.5
-
73
-
-
0028051871
-
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease: A contiguous gene syndrome
-
Brook-Carter PT, Peral B, Ward CJ, Thompson P, Hughes J, et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease: a contiguous gene syndrome. Nature Genet 1994;8:328-32.
-
(1994)
Nature Genet
, vol.8
, pp. 328-332
-
-
Brook-Carter, P.T.1
Peral, B.2
Ward, C.J.3
Thompson, P.4
Hughes, J.5
-
74
-
-
0030032163
-
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients
-
Wilson PJ, Ramesh V, Kristiansen A, Bove C, Jozwiak S, et al. Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. Hum Mol Genet 1996;5:249-56.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 249-256
-
-
Wilson, P.J.1
Ramesh, V.2
Kristiansen, A.3
Bove, C.4
Jozwiak, S.5
-
75
-
-
0024528058
-
Genetic aspects of tuberous sclerosis in the west of Scotland
-
Sampson JR, Scahill SJ, Stephenson JBP, Mann L, Connor JM. Genetic aspects of tuberous sclerosis in the west of Scotland. J Med Genet 1989;26:28-31.
-
(1989)
J Med Genet
, vol.26
, pp. 28-31
-
-
Sampson, J.R.1
Scahill, S.J.2
Stephenson, J.B.P.3
Mann, L.4
Connor, J.M.5
-
76
-
-
0000958002
-
L'anévrysme cirsoïde de la rétine (anévrysme racémeux). Ses relations avec l'anévrysme cirsoïde de la face et avec l'anévrysme cirsoïde du cerveau
-
Bonnet P, Dechaume J, Blanc E. L'anévrysme cirsoïde de la rétine (anévrysme racémeux). Ses relations avec l'anévrysme cirsoïde de la face et avec l'anévrysme cirsoïde du cerveau. J Med Lyon 1937;18:165-78.
-
(1937)
J Med Lyon
, vol.18
, pp. 165-178
-
-
Bonnet, P.1
Dechaume, J.2
Blanc, E.3
-
77
-
-
77957182535
-
Arteriovenous aneurysm of midbrain and retina, facial nerve and mental changes
-
Wyburn-Mason R. Arteriovenous aneurysm of midbrain and retina, facial nerve and mental changes. Brain 1943;66:163-203.
-
(1943)
Brain
, vol.66
, pp. 163-203
-
-
Wyburn-Mason, R.1
-
78
-
-
0021591531
-
Optic atrophy and the Wyburn-Mason syndrome
-
Danis R, Appen RE. Optic atrophy and the Wyburn-Mason syndrome. J Clin Neuro Ophthalmol 1984;4:91-5.
-
(1984)
J Clin Neuro Ophthalmol
, vol.4
, pp. 91-95
-
-
Danis, R.1
Appen, R.E.2
-
79
-
-
1842357969
-
Bonnet-Dechaume-Blanc syndrome
-
Vinken PJ, Bruyn GW, editors. Amsterdam: North Holland Publishing Company
-
Lecuire J, Dechaume JP, Bret P. Bonnet-Dechaume-Blanc syndrome. In: Vinken PJ, Bruyn GW, editors. The phakomatoses, handbook of clinical neurology. Vol 14. Amsterdam: North Holland Publishing Company, 1972: 260-6.
-
(1972)
The Phakomatoses, Handbook of Clinical Neurology
, vol.14
, pp. 260-266
-
-
Lecuire, J.1
Dechaume, J.P.2
Bret, P.3
-
80
-
-
1242281400
-
Other phakomatoses
-
Ryan S, editor. St Louis: C V Mosby Company
-
Ferry A. Other phakomatoses. In: Ryan S, editor. Retina. 2nd ed. Vol 1. St Louis: C V Mosby Company, 1993:653-6.
-
(1993)
Retina. 2nd Ed.
, vol.1
, pp. 653-656
-
-
Ferry, A.1
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