-
1
-
-
0029029527
-
A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23
-
Amati P, Chomel J-C, Nivelon-Chevalier A, Gilgenkrantz S, Kitzis A, Kaplan J, Bonneau D (1995) A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Hum Genet 96:213-215
-
(1995)
Hum Genet
, vol.96
, pp. 213-215
-
-
Amati, P.1
Chomel, J.-C.2
Nivelon-Chevalier, A.3
Gilgenkrantz, S.4
Kitzis, A.5
Kaplan, J.6
Bonneau, D.7
-
2
-
-
0026700965
-
Chromosomal assignment of human YAC clones by fluorescence in situ hybridization: Use of single-yeast-colony PCR and multiple labeling
-
Baldini A, Ross M, Nizetic D, Vatcheva R, Lindsay EA, Lehrach H, Siniscalco M (1992) Chromosomal assignment of human YAC clones by fluorescence in situ hybridization: use of single-yeast-colony PCR and multiple labeling. Genomics 14:181-184
-
(1992)
Genomics
, vol.14
, pp. 181-184
-
-
Baldini, A.1
Ross, M.2
Nizetic, D.3
Vatcheva, R.4
Lindsay, E.A.5
Lehrach, H.6
Siniscalco, M.7
-
3
-
-
0006544225
-
Hereditary congenital ptosis with report of 64 cases conforming to the Medelian rule of dominance
-
Briggs H (1919) Hereditary congenital ptosis with report of 64 cases conforming to the Medelian rule of dominance. Am J Ophthalmol 2:408-417
-
(1919)
Am J Ophthalmol
, vol.2
, pp. 408-417
-
-
Briggs, H.1
-
4
-
-
0015295677
-
Congenital ptosis: A new pedigree and classification
-
Cohen MA (1972) Congenital ptosis: a new pedigree and classification. Arch Ophthal 87:161-163
-
(1972)
Arch Ophthal
, vol.87
, pp. 161-163
-
-
Cohen, M.A.1
-
5
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
-
6
-
-
0031058836
-
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles
-
Engle EC, Goumernov B, McKeown CA, Schatz M, Johns DR, Porter JD, Beggs AH (1997) Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol 41:314-325
-
(1997)
Ann Neurol
, vol.41
, pp. 314-325
-
-
Engle, E.C.1
Goumernov, B.2
McKeown, C.A.3
Schatz, M.4
Johns, D.R.5
Porter, J.D.6
Beggs, A.H.7
-
7
-
-
0028168147
-
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12
-
Engle EC, Kunkel LM, Specht LA, Beggs AH (1994) Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet 7: 69-73
-
(1994)
Nat Genet
, vol.7
, pp. 69-73
-
-
Engle, E.C.1
Kunkel, L.M.2
Specht, L.A.3
Beggs, A.H.4
-
8
-
-
0028784357
-
Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): Genetic homogeneity, linkage refinement, and physical mapping on chromosome 12
-
Engle EC, Marondel I, Houtman WA, de Vries B, Lowenstein A, Lazar M, Ward DC, et al (1995) Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet 57:1086-1094
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1086-1094
-
-
Engle, E.C.1
Marondel, I.2
Houtman, W.A.3
De Vries, B.4
Lowenstein, A.5
Lazar, M.6
Ward, D.C.7
-
9
-
-
0029091076
-
Linkage analysis in blepharophimosis-ptosis syndrome confirms localization to 3q21-24
-
Harrar H, Jeffery S, Patton M (1995) Linkage analysis in blepharophimosis-ptosis syndrome confirms localization to 3q21-24. J Med Genet 32:774-777
-
(1995)
J Med Genet
, vol.32
, pp. 774-777
-
-
Harrar, H.1
Jeffery, S.2
Patton, M.3
-
10
-
-
0018893694
-
Bilateral Duane's retraction syndrome: A clinical-pathological case report
-
Hotchkiss MG, Miller NR, Clark AW, Green WG (1980) Bilateral Duane's retraction syndrome: a clinical-pathological case report. Arch Ophthalmol 98:870-874
-
(1980)
Arch Ophthalmol
, vol.98
, pp. 870-874
-
-
Hotchkiss, M.G.1
Miller, N.R.2
Clark, A.W.3
Green, W.G.4
-
11
-
-
0029416826
-
An STS-based map of the human genome
-
with supplementary data from the Whitehead Institute/MIT Center for Genome Research, Human Genetic Mapping Project, data release 10 [May 1996]
-
Hudson T, Stein L, Gerety S, Ma J, Castle A, Suva J, Slonim D, et al (1995) An STS-based map of the human genome. Science 270:1945-1954 (with supplementary data from the Whitehead Institute/MIT Center for Genome Research, Human Genetic Mapping Project, data release 10 [May 1996])
-
(1995)
Science
, vol.270
, pp. 1945-1954
-
-
Hudson, T.1
Stein, L.2
Gerety, S.3
Ma, J.4
Castle, A.5
Suva, J.6
Slonim, D.7
-
12
-
-
0010503681
-
Congenital ptosis
-
Albert DM, Jakobiec FA (eds). WB Saunders, Philadelphia
-
Johnson CC (1994) Congenital ptosis. In: Albert DM, Jakobiec FA (eds) Principles and practice of ophthalmology: clinical practice. Vol 3. WB Saunders, Philadelphia, pp 2839-2846
-
(1994)
Principles and Practice of Ophthalmology: Clinical Practice
, vol.3
, pp. 2839-2846
-
-
Johnson, C.C.1
-
13
-
-
0000703709
-
In situ hybridization to metaphase chromosomes and interphase nuclei
-
Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, et al (eds). Green-Wiley, New York, unit 4.3
-
Knoll JHM, Lichter P (1994) In situ hybridization to metaphase chromosomes and interphase nuclei. In: Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, et al (eds) Current protocols in human genetics. Vol 1. Green-Wiley, New York, unit 4.3
-
(1994)
Current Protocols in Human Genetics
, vol.1
-
-
Knoll, J.H.M.1
Lichter, P.2
-
15
-
-
0027024713
-
Modification anatomtque du muscle releveur de la paupiere dans le ptosis congenital
-
Lemagne J, Colonval S, Moens B, Brucher J (1992) Modification anatomtque du muscle releveur de la paupiere dans le ptosis congenital. Bull Soc Belge Ophthalmol 243:23-27
-
(1992)
Bull Soc Belge Ophthalmol
, vol.243
, pp. 23-27
-
-
Lemagne, J.1
Colonval, S.2
Moens, B.3
Brucher, J.4
-
16
-
-
0008766456
-
Anatomy and physiology of normal and abnormal eyelid position and movement
-
Williams & Wilkins, Baltimore
-
Miller NR (1985) Anatomy and physiology of normal and abnormal eyelid position and movement, in Walsh and Hoyt's clinical neuro-ophthalmology. Williams & Wilkins, Baltimore, pp 932-995
-
(1985)
Walsh and Hoyt's Clinical Neuro-ophthalmology
, pp. 932-995
-
-
Miller, N.R.1
-
18
-
-
0027942568
-
A comprehensive human linkage map with centimorgan density
-
Murray JC, Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema T, Manion F, Quillen J, et al (1994) A comprehensive human linkage map with centimorgan density. Science 265:2049-2054
-
(1994)
Science
, vol.265
, pp. 2049-2054
-
-
Murray, J.C.1
Buetow, K.H.2
Weber, J.L.3
Ludwigsen, S.4
Scherpbier-Heddema, T.5
Manion, F.6
Quillen, J.7
-
19
-
-
0029997931
-
Muscles of a different "color": The unusual properties of the extraocular muscles may predispose or protect them in neurogenic and myogenic disease
-
Porter J, Baker R (1996) Muscles of a different "color": the unusual properties of the extraocular muscles may predispose or protect them in neurogenic and myogenic disease. Neurology 46:30-37
-
(1996)
Neurology
, vol.46
, pp. 30-37
-
-
Porter, J.1
Baker, R.2
-
20
-
-
84981811192
-
The genetic approach to hereditary congenital ptosis
-
Rank B, Thomson J (1959) The genetic approach to hereditary congenital ptosis. Aust New Zeal J Surg 28: 274-79
-
(1959)
Aust New Zeal J Surg
, vol.28
, pp. 274-279
-
-
Rank, B.1
Thomson, J.2
-
21
-
-
10244230901
-
A gene map of the human genome
-
Schuler GD, Boguski MS, Stewart EA, Stein LD, Gyapay G, Rice K, White RE, et al (1996) A gene map of the human genome. Science 274:540-546
-
(1996)
Science
, vol.274
, pp. 540-546
-
-
Schuler, G.D.1
Boguski, M.S.2
Stewart, E.A.3
Stein, L.D.4
Gyapay, G.5
Rice, K.6
White, R.E.7
-
22
-
-
0028926103
-
Blepharophimosis syndrome is linked to chromosome 3q
-
Small K, Stalvey M, Fisher L, Mullen L, Dickel C, Beadles K, Reimer R, et al (1995) Blepharophimosis syndrome is linked to chromosome 3q. Hum Mol Genet 4:443-448
-
(1995)
Hum Mol Genet
, vol.4
, pp. 443-448
-
-
Small, K.1
Stalvey, M.2
Fisher, L.3
Mullen, L.4
Dickel, C.5
Beadles, K.6
Reimer, R.7
-
23
-
-
0026864615
-
An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids
-
Tagle DA, Collins FS (1992) An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids. Hum Mol Genet 1:121-122
-
(1992)
Hum Mol Genet
, vol.1
, pp. 121-122
-
-
Tagle, D.A.1
Collins, F.S.2
|