-
1
-
-
0014231622
-
La miose congénitale et l'albinisme
-
Agoston I, Grof P (1968) La miose congénitale et l'albinisme. Ophthalmologica 155:399-408
-
(1968)
Ophthalmologica
, vol.155
, pp. 399-408
-
-
Agoston, I.1
Grof, P.2
-
3
-
-
0012425290
-
Die normale Entwicklung des menschlichen Auges
-
Thieme, Leipzig
-
Badtke G (1958) Die normale Entwicklung des menschlichen Auges. In: Der Augen-arzt. Vol 1. Thieme, Leipzig, p 316
-
(1958)
Der Augen-arzt
, vol.1
, pp. 316
-
-
Badtke, G.1
-
4
-
-
0028168957
-
Selection of cDNAs using chromosome-specific genomic clones: Application to human chromosome 13
-
Bonaldo MF, Yu MT, Jelenc P, Brown S, Su L, Lawton L, Deaven L, et al (1994) Selection of cDNAs using chromosome-specific genomic clones: application to human chromosome 13. Hum Mol Genet 3:1663-1673
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1663-1673
-
-
Bonaldo, M.F.1
Yu, M.T.2
Jelenc, P.3
Brown, S.4
Su, L.5
Lawton, L.6
Deaven, L.7
-
5
-
-
0028037142
-
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25
-
Collod G, Babron MC, Jondeau G, Coulon M, Weissenbach J, Dubourg O, Bourdarias JP, et al (1994) A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet 8:264-268
-
(1994)
Nat Genet
, vol.8
, pp. 264-268
-
-
Collod, G.1
Babron, M.C.2
Jondeau, G.3
Coulon, M.4
Weissenbach, J.5
Dubourg, O.6
Bourdarias, J.P.7
-
6
-
-
0022522804
-
La microcorie congénitale: Une observation avec étude histopathologique
-
Coulon G, Delbosc B, Jeffredo Y, Viennet G, Oppermann A, Royer J (1986) La microcorie congénitale: une observation avec étude histopathologique. J Fr Ophtalmol 9:35-39
-
(1986)
J Fr Ophtalmol
, vol.9
, pp. 35-39
-
-
Coulon, G.1
Delbosc, B.2
Jeffredo, Y.3
Viennet, G.4
Oppermann, A.5
Royer, J.6
-
8
-
-
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
-
9
-
-
0031570670
-
Cloning and chromosomal localization of a gene (GPR18) encoding a novel seven transmembrane receptor highly expressed in spleen and testis
-
Gantz I, Muraoka A, Yang YK, Samuelson W, Zimmerman EM, Cook H, Yamada T (1997) Cloning and chromosomal localization of a gene (GPR18) encoding a novel seven transmembrane receptor highly expressed in spleen and testis. Genomics 42:462-466
-
(1997)
Genomics
, vol.42
, pp. 462-466
-
-
Gantz, I.1
Muraoka, A.2
Yang, Y.K.3
Samuelson, W.4
Zimmerman, E.M.5
Cook, H.6
Yamada, T.7
-
10
-
-
0029091048
-
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)
-
Héon E, Sheth BP, Kalenak JW, Sunden SLF, Streb LM, Taylor CM, Alward WLM, et al (1995) Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum Mol Genet 4:1435-143
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1435-2143
-
-
Héon, E.1
Sheth, B.P.2
Kalenak, J.W.3
Sunden, S.L.F.4
Streb, L.M.5
Taylor, C.M.6
Alward, W.L.M.7
-
11
-
-
0442291967
-
Congenital miosis or pinhole pupils owing to developmental faults of the dilatator muscle
-
Holth S, Berner O (1923) Congenital miosis or pinhole pupils owing to developmental faults of the dilatator muscle. Br J Ophthalmol 401-419
-
(1923)
Br J Ophthalmol
, pp. 401-419
-
-
Holth, S.1
Berner, O.2
-
12
-
-
0030870983
-
Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly
-
Jordan T, Ebenezer N, Manners R, McGill J, Bhattacharya S (1997) Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly. Am J Hum Genet 61: 882-888
-
(1997)
Am J Hum Genet
, vol.61
, pp. 882-888
-
-
Jordan, T.1
Ebenezer, N.2
Manners, R.3
McGill, J.4
Bhattacharya, S.5
-
13
-
-
0026490380
-
Assignment of the human gene propionyl coenzyme A carboxylase, alpha-chain, (PCCA), to chromosome 13q32 by in situ hybridization
-
Kennerknecht I, Klett C, Hameister H (1992) Assignment of the human gene propionyl coenzyme A carboxylase, alpha-chain, (PCCA), to chromosome 13q32 by in situ hybridization. Genomics 14:550-551
-
(1992)
Genomics
, vol.14
, pp. 550-551
-
-
Kennerknecht, I.1
Klett, C.2
Hameister, H.3
-
14
-
-
0030066955
-
Chromosomal assignment of the gene encoding the human 58kDa inhibitor (PRKRI) of the interferon-induced ds RNA-activated protein kinasre to chromosome 13q32
-
Korth MJ, Edelhoff S, Disteche CM, Katze MG (1996) Chromosomal assignment of the gene encoding the human 58kDa inhibitor (PRKRI) of the interferon-induced ds RNA-activated protein kinasre to chromosome 13q32. Genomics 31: 238-239
-
(1996)
Genomics
, vol.31
, pp. 238-239
-
-
Korth, M.J.1
Edelhoff, S.2
Disteche, C.M.3
Katze, M.G.4
-
15
-
-
0021344005
-
Easy calculations of lod scores and genetic risks on small computers
-
Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
16
-
-
0028296424
-
Genetic heterogeneity in Rieger eye malformation
-
Legius E, de Die-Smulders CE, Verbraak F, Habex H, Decorte R, Marynen P, Fryns JP et al. (1994) Genetic heterogeneity in Rieger eye malformation. J Med Genet 31:340-341
-
(1994)
J Med Genet
, vol.31
, pp. 340-341
-
-
Legius, E.1
De Die-Smulders, C.E.2
Verbraak, F.3
Habex, H.4
Decorte, R.5
Marynen, P.6
Fryns, J.P.7
-
17
-
-
84907113877
-
Hereditary cases of congenital microcoria and goniodysgenesis
-
Mazzeo V, Gaiba G, Rossi A (1986) Hereditary cases of congenital microcoria and goniodysgenesis. Ophthalmic Paediatr Genet 7:121-125
-
(1986)
Ophthalmic Paediatr Genet
, vol.7
, pp. 121-125
-
-
Mazzeo, V.1
Gaiba, G.2
Rossi, A.3
-
19
-
-
0029807866
-
Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25
-
Mears AJ, Mirzayans F, Gould DB, Pearce WG, Walter MA (1996) Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. Am J Hum Genet 59:1321-1327
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1321-1327
-
-
Mears, A.J.1
Mirzayans, F.2
Gould, D.B.3
Pearce, W.G.4
Walter, M.A.5
-
20
-
-
0003004185
-
Sequential test for the detection of linkage
-
Morton NE (1955) Sequential test for the detection of linkage. Am J Hum Genet 8:80-96
-
(1955)
Am J Hum Genet
, vol.8
, pp. 80-96
-
-
Morton, N.E.1
-
21
-
-
0028790963
-
The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance
-
O'Connell JR, Weeks DE (1995) The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance. Nat Genet 11:402-408
-
(1995)
Nat Genet
, vol.11
, pp. 402-408
-
-
O'Connell, J.R.1
Weeks, D.E.2
-
22
-
-
0029762015
-
A second locus for Rieger syndrome maps to chromosome 13q14
-
Phillips JC, Del Bono EA, Haines JL, Pralea AM, Cohen JS, Greif LJ, Wiggs JL (1996) A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet 59: 613-619
-
(1996)
Am J Hum Genet
, vol.59
, pp. 613-619
-
-
Phillips, J.C.1
Del Bono, E.A.2
Haines, J.L.3
Pralea, A.M.4
Cohen, J.S.5
Greif, L.J.6
Wiggs, J.L.7
-
24
-
-
0026521920
-
A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: Results of an International Consortium study
-
Sarfarazi M, Tsipouras P, Del Mastro R, Kilpatrick M, Farndon P, Boxer M, Bridges A, et al (1992) A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study. J Med Genet 29: 75-80
-
(1992)
J Med Genet
, vol.29
, pp. 75-80
-
-
Sarfarazi, M.1
Tsipouras, P.2
Del Mastro, R.3
Kilpatrick, M.4
Farndon, P.5
Boxer, M.6
Bridges, A.7
-
25
-
-
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
-
26
-
-
0027173920
-
Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31
-
Sheffield VC, Stone EM, Alward WLM, Drack AV, Johnson AT, Streb LM, Nichols BE (1993) Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet 4:47-50
-
(1993)
Nat Genet
, vol.4
, pp. 47-50
-
-
Sheffield, V.C.1
Stone, E.M.2
Alward, W.L.M.3
Drack, A.V.4
Johnson, A.T.5
Streb, L.M.6
Nichols, B.E.7
-
27
-
-
0020971487
-
Axenfeld-Rieger syndrome: A theory of mechanism and distinctions from the iridocorneal endothelial syndrome
-
Shields MB (1983) Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc 81:736-783
-
(1983)
Trans Am Ophthalmol Soc
, vol.81
, pp. 736-783
-
-
Shields, M.B.1
-
28
-
-
0024494057
-
The ultrastructural pathological features of congenital microcoria. A case report
-
Simpson WAC, Parson MA (1989) The ultrastructural pathological features of congenital microcoria. A case report. Arch Ophthalmol 107:99-102
-
(1989)
Arch Ophthalmol
, vol.107
, pp. 99-102
-
-
Simpson, W.A.C.1
Parson, M.A.2
-
29
-
-
0026446976
-
TRP-2/DT a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor
-
Steel KP, Davidson DR, Jackson IJ (1992) TRP-2/DT a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor. Development 115:1111-1119
-
(1992)
Development
, vol.115
, pp. 1111-1119
-
-
Steel, K.P.1
Davidson, D.R.2
Jackson, I.J.3
-
30
-
-
0028278262
-
Assignment of the tyrosinase-related protein-2 gene (TYRP2) to human chromosome 13q31-q32 by fluorescence in situ hybridization: Extended synteny with mouse chromosome 14
-
Sturm RA, Baker E, Sutherland GR (1994) Assignment of the tyrosinase-related protein-2 gene (TYRP2) to human chromosome 13q31-q32 by fluorescence in situ hybridization: extended synteny with mouse chromosome 14. Genomics 21:293-296
-
(1994)
Genomics
, vol.21
, pp. 293-296
-
-
Sturm, R.A.1
Baker, E.2
Sutherland, G.R.3
-
31
-
-
0027074079
-
Precise localization of the excision repair gene, ERCC5, to human chromosome 13q32.3-q33.1 by direct R-banding fluorescence in situ hybridization
-
Takahasi E, Shiomi N, Shiomi T (1992) Precise localization of the excision repair gene, ERCC5, to human chromosome 13q32.3-q33.1 by direct R-banding fluorescence in situ hybridization. Jpn J Cancer Res 83:117-1119
-
(1992)
Jpn J Cancer Res
, vol.83
, pp. 117-1119
-
-
Takahasi, E.1
Shiomi, N.2
Shiomi, T.3
-
32
-
-
0020522186
-
Familial cases of congenital microcoria associated with late onset congenital glaucoma and goniodysgenesis
-
Tawara A, Inomata H (1983) Familial cases of congenital microcoria associated with late onset congenital glaucoma and goniodysgenesis. Jpn J Ophthalomol 27:63-72
-
(1983)
Jpn J Ophthalomol
, vol.27
, pp. 63-72
-
-
Tawara, A.1
Inomata, H.2
-
33
-
-
0028800713
-
Association of congenital microcoria with myopia and glaucoma
-
Toulemont PJ, Urvoy M, Coscas G, Lecallonnec A, Cuvilliers AF (1995) Association of congenital microcoria with myopia and glaucoma. Ophthalmology 102:193-198
-
(1995)
Ophthalmology
, vol.102
, pp. 193-198
-
-
Toulemont, P.J.1
Urvoy, M.2
Coscas, G.3
Lecallonnec, A.4
Cuvilliers, A.F.5
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