-
1
-
-
0023879748
-
A reappraisal of the development of the eyelids
-
Sevel, D. (1988) A reappraisal of the development of the eyelids. Eye 2, 123-129.
-
(1988)
Eye
, vol.2
, pp. 123-129
-
-
Sevel, D.1
-
2
-
-
0027317843
-
Eyelid development, fusion and subsequent reopening in the mouse
-
Findlater, G.S., McDougall, R.D. and Kaufman, M.H. (1993) Eyelid development, fusion and subsequent reopening in the mouse. J. Anat. 183, 121-129.
-
(1993)
J. Anat.
, vol.183
, pp. 121-129
-
-
Findlater, G.S.1
McDougall, R.D.2
Kaufman, M.H.3
-
3
-
-
0028176755
-
Activin/inhibin βB subunit gene disruption leads to defects in eyelid development and female reproduction
-
Vassalli, A., Matzuk, M.M., Gadnr, H.A.R., Lee, K.-F. and Jaenisch, R. (1994) Activin/inhibin βB subunit gene disruption leads to defects in eyelid development and female reproduction. Genes Dev. 8, 414-427.
-
(1994)
Genes Dev.
, vol.8
, pp. 414-427
-
-
Vassalli, A.1
Matzuk, M.M.2
Gadnr, H.A.R.3
Lee, K.-F.4
Jaenisch, R.5
-
4
-
-
0023875626
-
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)
-
Oley, C. and Baraitser, M. (1988) Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome). J. Med. Genet. 25, 47-51.
-
(1988)
J. Med. Genet.
, vol.25
, pp. 47-51
-
-
Oley, C.1
Baraitser, M.2
-
5
-
-
0027485381
-
Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) associated with intersitital deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3-3q23
-
Jewett, T.P., Rao, N., Weaver, G.R., Stewart, W., Thomas, I.T. and Pettenati, M.J. (1993) Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) associated with intersitital deletion of band 3q22: review and gene assignment to the interface of band 3q22.3-3q23. Am. J. Med. Genet. 47, 1147-1150.
-
(1993)
Am. J. Med. Genet.
, vol.47
, pp. 1147-1150
-
-
Jewett, T.P.1
Rao, N.2
Weaver, G.R.3
Stewart, W.4
Thomas, I.T.5
Pettenati, M.J.6
-
6
-
-
0023634915
-
Interstitial deletion of the long arm of chromosome 3: Case report, review, and definition of a phenotype
-
Alvarado, M., Bocain, M. and Walker, A.P. (1987) Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype. Am. J. Med. Genet. 27, 781-786.
-
(1987)
Am. J. Med. Genet.
, vol.27
, pp. 781-786
-
-
Alvarado, M.1
Bocain, M.2
Walker, A.P.3
-
7
-
-
0028926103
-
Blepharophimosis syndrome is linked to chromosome 3q
-
Small, K.W., Stalvey, M., Fisher, L., Mullen, L., Dickle, C., Beadles, K., Reimer, R., Lessner, A., Lewis, K. and Pericak-Vance, M. (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.W.1
Stalvey, M.2
Fisher, L.3
Mullen, L.4
Dickle, C.5
Beadles, K.6
Reimer, R.7
Lessner, A.8
Lewis, K.9
Pericak-Vance, M.10
-
8
-
-
0029091076
-
Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24
-
Harrar, H.S., Jeffery, S. and Patton, M.A. (1995) Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24. J. Med. Genet. 32, 774-777.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 774-777
-
-
Harrar, H.S.1
Jeffery, S.2
Patton, M.A.3
-
9
-
-
0029029527
-
A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23
-
Amati, P., Choml, J.-C., Nivelon-Chevalier, A., Gilgenkrantz, S., Kitzis, A., Kaplan, J. and 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
Choml, J.-C.2
Nivelon-Chevalier, A.3
Gilgenkrantz, S.4
Kitzis, A.5
Kaplan, J.6
Bonneau, D.7
-
10
-
-
0024544039
-
Regional mapping of RBP4 to 10q23-24 and RBP1 to 3q21-q22 in man. Somat
-
Rocchi, M., Covone, A., Romeo, G., Faraonio, R. and Colantuoni, V. (1989) Regional mapping of RBP4 to 10q23-24 and RBP1 to 3q21-q22 in man. Somat. Cell Mol. Genet. 15, 185-190.
-
(1989)
Cell Mol. Genet.
, vol.15
, pp. 185-190
-
-
Rocchi, M.1
Covone, A.2
Romeo, G.3
Faraonio, R.4
Colantuoni, V.5
-
11
-
-
0028168007
-
Genetic analysis of RXRa developmental function: Convergence of RXR and RAR signalling pathways in heart and eye morphogenesis
-
Kastner, P., Grondona, J.M., Mark, M., Gansmuller, A., LeMeur, M., Decimo, D., Vonesch, J.-L., Dolle, P. and Chambon, P. (1994) Genetic analysis of RXRa developmental function: convergence of RXR and RAR signalling pathways in heart and eye morphogenesis. Cell 78, 987-1003.
-
(1994)
Cell
, vol.78
, pp. 987-1003
-
-
Kastner, P.1
Grondona, J.M.2
Mark, M.3
Gansmuller, A.4
LeMeur, M.5
Decimo, D.6
Vonesch, J.-L.7
Dolle, P.8
Chambon, P.9
-
12
-
-
0019447567
-
Interstitial deletion of the short arm of chromosome 7 without craniosynostosis
-
Bianchi, D.W., Cirillo-Silengo, M., Luzzatti, L. and Greenstein, R.M. (1981) Interstitial deletion of the short arm of chromosome 7 without craniosynostosis. Clin. Genet. 19, 456-461.
-
(1981)
Clin. Genet.
, vol.19
, pp. 456-461
-
-
Bianchi, D.W.1
Cirillo-Silengo, M.2
Luzzatti, L.3
Greenstein, R.M.4
-
13
-
-
0028912894
-
Cytogenetic findings indicate heterogeneity in patients with blepharophmoisis, epicanthus inversus and developmental delay
-
Warburg, M., Bugge, M. and Brondum-Nielsen, K. (1995) Cytogenetic findings indicate heterogeneity in patients with blepharophmoisis, epicanthus inversus and developmental delay. J. Med. Genet. 32, 19-24.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 19-24
-
-
Warburg, M.1
Bugge, M.2
Brondum-Nielsen, K.3
-
14
-
-
0028946924
-
Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p
-
Moncla, A., Philip, N. and Matttei J.F. (1995) Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p. J. Med. Genet. 32, 245-248.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 245-248
-
-
Moncla, A.1
Philip, N.2
Matttei, J.F.3
-
15
-
-
0020508397
-
The blepharophimosis, ptosis and epicanthus inversus syndrome; delineation of two types
-
Zlotogora, J., Sagi, M. and Cohen, T. (1983) The blepharophimosis, ptosis and epicanthus inversus syndrome; delineation of two types. Am. J. Hum. Genet. 35, 1020-1027.
-
(1983)
Am. J. Hum. Genet.
, vol.35
, pp. 1020-1027
-
-
Zlotogora, J.1
Sagi, M.2
Cohen, T.3
-
16
-
-
0024370323
-
Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus invresus syndrome (BPES)
-
Temple, I.K. and Baraitser, M. (1989) Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus invresus syndrome (BPES). J. Med. Genet. 26, 517-519.
-
(1989)
J. Med. Genet.
, vol.26
, pp. 517-519
-
-
Temple, I.K.1
Baraitser, M.2
-
17
-
-
0017258328
-
High resolution of human chromosomes
-
Yunis, J.J. (1976) High resolution of human chromosomes. Science 191, 1268-1270.
-
(1976)
Science
, vol.191
, pp. 1268-1270
-
-
Yunis, J.J.1
-
18
-
-
0029034110
-
Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies
-
Lawson, C.T., Toomes, C., Fryer, A., Carette, M.J.M., Taylor, G.M., Fukushima, Y. and Dixon, M.J. (1995) Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. Hum. Mol. Genet. 4, 963-967.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 963-967
-
-
Lawson, C.T.1
Toomes, C.2
Fryer, A.3
Carette, M.J.M.4
Taylor, G.M.5
Fukushima, Y.6
Dixon, M.J.7
-
19
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib, C., Faure, S., Fizames, C.,. Samson, D., Druot, N., Vignal, A., Milasseau, P., Marc, S., Hazan, J., Seboun, E., Lathrop, M., Gyapay, G., Morissette, J., and Weissenbach, J. (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
Druot, N.5
Vignal, A.6
Milasseau, P.7
Marc, S.8
Hazan, J.9
Seboun, E.10
Lathrop, M.11
Gyapay, G.12
Morissette, J.13
Weissenbach, J.14
-
20
-
-
0028865860
-
A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps
-
Sheffield, V.C., Weber, J.L., Buetow, K.H., Murray, J.C., Even, A., Wiles, K., Gastier, J.M., Pulido, J.C., Yandava, C., Sunden, S.L., Mattes, G., Businga, T., McClain, A., Beck, J., Scherpier, T., Gilliam, J., Zhong, J. and Duyk, G.M. (1995) A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum. Mol. Genet. 4, 1837-1844.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1837-1844
-
-
Sheffield, V.C.1
Weber, J.L.2
Buetow, K.H.3
Murray, J.C.4
Even, A.5
Wiles, K.6
Gastier, J.M.7
Pulido, J.C.8
Yandava, C.9
Sunden, S.L.10
Mattes, G.11
Businga, T.12
McClain, A.13
Beck, J.14
Scherpier, T.15
Gilliam, J.16
Zhong, J.17
Duyk, G.M.18
-
21
-
-
0028268123
-
Integration of physical, genetic and cytogenetic maps of human chromosome 7: Clones and analysis of yeast artificial chromosome clones for 117 mapped genetic markers
-
Green E.D., Idol, J.R., Mohr-Tidwell, R.M., Braden V.V., Peluso, D.C., Fulton, R.S., Massa, H.F., Magness, C.L., Wilson, A., Kimura, A.M., Weissenbach, J. and Trask, B.J. (1994) Integration of physical, genetic and cytogenetic maps of human chromosome 7: clones and analysis of yeast artificial chromosome clones for 117 mapped genetic markers. Hum. Mol. Genet. 3, 489-501.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 489-501
-
-
Green, E.D.1
Idol, J.R.2
Mohr-Tidwell, R.M.3
Braden, V.V.4
Peluso, D.C.5
Fulton, R.S.6
Massa, H.F.7
Magness, C.L.8
Wilson, A.9
Kimura, A.M.10
Weissenbach, J.11
Trask, B.J.12
-
22
-
-
0028929863
-
Functional analysis of activins during mammalian development
-
Matzuk, M.M., Kumar, T.R., Vassalli, A., Bickenbach, J.R., Roop, D.R., Jaenisch, R. and Bradley, A. (1995) Functional analysis of activins during mammalian development. Nature 374, 354-356.
-
(1995)
Nature
, vol.374
, pp. 354-356
-
-
Matzuk, M.M.1
Kumar, T.R.2
Vassalli, A.3
Bickenbach, J.R.4
Roop, D.R.5
Jaenisch, R.6
Bradley, A.7
-
23
-
-
0027688610
-
Dinucleotide repeat polymorphism in the INHBA gene
-
Pang, Z., Pardinas, J.R, Dermody, J. and Ozer, H.L. (1993) Dinucleotide repeat polymorphism in the INHBA gene. Hum. Mol. Genet. 2, 1982.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1982
-
-
Pang, Z.1
Pardinas, J.R.2
Dermody, J.3
Ozer, H.L.4
-
24
-
-
0026455704
-
Localization of genes and anonymous DNA probes on the short arm of chromosome 7
-
Wagner, K., Kroisel, P.M. and Rosenkranz, W. (1992) Localization of genes and anonymous DNA probes on the short arm of chromosome 7. Mammalian Genome 3, 9-41.
-
(1992)
Mammalian Genome
, vol.3
, pp. 9-41
-
-
Wagner, K.1
Kroisel, P.M.2
Rosenkranz, W.3
-
25
-
-
0026737403
-
Sublocalization of an invasion-inducing locus and other genes on human chromosome 7
-
Habets, G.G.M., vand der Kammen, R.A., Willemsen, V., Balemans, M., Wiegant, J. and Collard, J.G. (1992) Sublocalization of an invasion-inducing locus and other genes on human chromosome 7. Cytogenet. Cell Genet. 60, 200-205.
-
(1992)
Cytogenet. Cell Genet.
, vol.60
, pp. 200-205
-
-
Habets, G.G.M.1
Vand Der Kammen, R.A.2
Willemsen, V.3
Balemans, M.4
Wiegant, J.5
Collard, J.G.6
-
26
-
-
0021952545
-
Human transforming growth factor-alpha causes precocious eyelid opening in newborn mice
-
Smith, J.M., Sporn, M.B., Roberts, A.B., Derynck, R., Winkler, M.E. and Gregory, H. (1985) Human transforming growth factor-alpha causes precocious eyelid opening in newborn mice. Nature 315, 515-516.
-
(1985)
Nature
, vol.315
, pp. 515-516
-
-
Smith, J.M.1
Sporn, M.B.2
Roberts, A.B.3
Derynck, R.4
Winkler, M.E.5
Gregory, H.6
-
27
-
-
0028343233
-
Automated construction of genetic linkage maps using an expert system (MultiMap): A human genome linkage map
-
Matise, T.C., Perlin, M. and Chakravarti, A. (1994) Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map. Nature Genet. 6, 384-390.
-
(1994)
Nature Genet.
, vol.6
, pp. 384-390
-
-
Matise, T.C.1
Perlin, M.2
Chakravarti, A.3
-
28
-
-
0024711784
-
Isolation, chromosomal localization, and nucleotide sequence of the human HOX 1.4 homeobox
-
Ferguson-Smith, A.C., Fienberg, A. and Ruddle, F.H. (1989) Isolation, chromosomal localization, and nucleotide sequence of the human HOX 1.4 homeobox. Genomics 5, 250-258.
-
(1989)
Genomics
, vol.5
, pp. 250-258
-
-
Ferguson-Smith, A.C.1
Fienberg, A.2
Ruddle, F.H.3
-
29
-
-
0024353975
-
Craniofacial abnormalities induced by ectopic expression of the homeobox gene Hox-1.1 in transgenic mice
-
Balling, R., Mutter, G., Gruss, P. and Kessel, M. (1989) Craniofacial abnormalities induced by ectopic expression of the homeobox gene Hox-1.1 in transgenic mice. Cell 58, 337-347.
-
(1989)
Cell
, vol.58
, pp. 337-347
-
-
Balling, R.1
Mutter, G.2
Gruss, P.3
Kessel, M.4
-
30
-
-
0024412008
-
Blepharophimosis plus ovarian failure: A likely candidate for a contiguous gene syndrome
-
Smith, A., Fraser, I.S., Shearman, R.P. and Russell, P. (1989) Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome. J. Med. Genet. 26, 434-438.
-
(1989)
J. Med. Genet.
, vol.26
, pp. 434-438
-
-
Smith, A.1
Fraser, I.S.2
Shearman, R.P.3
Russell, P.4
-
31
-
-
0028847380
-
Mitochondrial tRNA mutation associated with non-syndromic deafness
-
Fischel-Ghodsian, N., Prezant, T.R., Fournier, P., Stewart, I.A. and Maw, M. (1995) Mitochondrial tRNA mutation associated with non-syndromic deafness. Am. J. Otolaryng. 16, 403-408.
-
(1995)
Am. J. Otolaryng.
, vol.16
, pp. 403-408
-
-
Fischel-Ghodsian, N.1
Prezant, T.R.2
Fournier, P.3
Stewart, I.A.4
Maw, M.5
-
32
-
-
0029079382
-
Oguchi disease: Suggestion of linkage to markers on chromosome 2q
-
Maw, M.A., John, S., Jablonka, S., Muller, B., Kumaramanickavel, G., Oehlmann, R., Denton, M.J. and Gal, A. (1994) Oguchi disease: suggestion of linkage to markers on chromosome 2q. J. Med. Genet. 32, 396-398.
-
(1994)
J. Med. Genet.
, vol.32
, pp. 396-398
-
-
Maw, M.A.1
John, S.2
Jablonka, S.3
Muller, B.4
Kumaramanickavel, G.5
Oehlmann, R.6
Denton, M.J.7
Gal, A.8
-
33
-
-
0342499587
-
Strategies for multilocus linkage analysis in humans
-
Lathrop, G.M., Lalouel, J.M., Julier, C. and Ott, J. (1984) Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. USA 81, 3443-3446.
-
(1984)
Proc. Natl. Acad. Sci. USA
, vol.81
, pp. 3443-3446
-
-
Lathrop, G.M.1
Lalouel, J.M.2
Julier, C.3
Ott, J.4
-
34
-
-
0000801438
-
SLINK: A general simulation program for linkage analysis
-
Weeks, D.E., Ott, J. and Lanthrop, G.M. (1990) SLINK: A general simulation program for linkage analysis. Am. J. Hum. Genet. 47, A204.
-
(1990)
Am. J. Hum. Genet.
, vol.47
-
-
Weeks, D.E.1
Ott, J.2
Lanthrop, G.M.3
|