-
1
-
-
0029820166
-
Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the expressed sequence tags database
-
Allikmets, R., B. Gerrard, A. Hutchinson, and M. Dean. 1996. Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the expressed sequence tags database. Hum. Mol. Genet. 10: 1649-1655.
-
(1996)
Hum. Mol. Genet.
, vol.10
, pp. 1649-1655
-
-
Allikmets, R.1
Gerrard, B.2
Hutchinson, A.3
Dean, M.4
-
2
-
-
0031037951
-
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
-
Allikmets, R., N. Singh, H. Sun, N.F. Shroyer, A. Hutchinson, A. Chidambaram, B. Gerrard, L. Baird, D. Stauffer, A. Peiffer, A. Rattner, P. Smallwood, Y. Li, K.L. Anderson, R.A. Lewis, J. Nathans, M. Leppert, M. Dean, and J.R. Lupski. 1997. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genet. 15: 236-247.
-
(1997)
Nature Genet.
, vol.15
, pp. 236-247
-
-
Allikmets, R.1
Singh, N.2
Sun, H.3
Shroyer, N.F.4
Hutchinson, A.5
Chidambaram, A.6
Gerrard, B.7
Baird, L.8
Stauffer, D.9
Peiffer, A.10
Rattner, A.11
Smallwood, P.12
Li, Y.13
Anderson, K.L.14
Lewis, R.A.15
Nathans, J.16
Leppert, M.17
Dean, M.18
Lupski, J.R.19
-
3
-
-
0027399171
-
Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning
-
Bergen, A.A.B., M.C. Wapenaar, E.J.M. Schuurman, P.J. Diergaarde, H. Lerach, A.P. Monaco, E. Bakker, E.M. Bleeker-Wagemakers, and G.J.B. van Ommen. 1993. Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning. Cytogenet. Cell Genet. 62: 231-235.
-
(1993)
Cytogenet. Cell Genet.
, vol.62
, pp. 231-235
-
-
Bergen, A.A.B.1
Wapenaar, M.C.2
Schuurman, E.J.M.3
Diergaarde, P.J.4
Lerach, H.5
Monaco, A.P.6
Bakker, E.7
Bleeker-Wagemakers, E.M.8
Van Ommen, G.J.B.9
-
4
-
-
0023093963
-
Clinical characteristics of choroidal neovascular membrane
-
Bressler, N.M., S.B. Bressler, and E.S. Gragoudas. 1987. Clinical characteristics of choroidal neovascular membrane. Arch. Ophthalmol. 105: 209-213.
-
(1987)
Arch. Ophthalmol.
, vol.105
, pp. 209-213
-
-
Bressler, N.M.1
Bressler, S.B.2
Gragoudas, E.S.3
-
5
-
-
44049123201
-
Workshop on pseudoxanthoma elasticum: Molecular biology and pathology of the elastic fibers
-
Jefferson Medical College, Philadelphia, Pennsylvania, June 10, 1992.
-
Christiano, A.M., M.B. Lebwohl, C.D. Boyd, and J. Uitto. 1992. Workshop on pseudoxanthoma elasticum: Molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, Pennsylvania, June 10, 1992. J. Invest. Dermatol. 5: 660-663.
-
(1992)
J. Invest. Dermatol.
, vol.5
, pp. 660-663
-
-
Christiano, A.M.1
Lebwohl, M.B.2
Boyd, C.D.3
Uitto, J.4
-
6
-
-
0001645843
-
Pseudoxanthoma elasticum: A clinical and histopathological study
-
Goodman, R.M., E.W. Smith, D. Paton, R.A. Bergman, Ch.L. Siegel, O.E. Ottesen, W.M. Shelly, A.L. Pusch, and V.A. McKusick. 1963. Pseudoxanthoma elasticum: A clinical and histopathological study. Medicine 42: 297-334.
-
(1963)
Medicine
, vol.42
, pp. 297-334
-
-
Goodman, R.M.1
Smith, E.W.2
Paton, D.3
Bergman, R.A.4
Siegel, Ch.L.5
Ottesen, O.E.6
Shelly, W.M.7
Pusch, A.L.8
McKusick, V.A.9
-
7
-
-
0026001088
-
Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk
-
Hausser, I. and I. Anton-Lamprecht. 1991. Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk. Hum. Genet. 87: 693-700.
-
(1991)
Hum. Genet.
, vol.87
, pp. 693-700
-
-
Hausser, I.1
Anton-Lamprecht, I.2
-
8
-
-
0028122479
-
Missense rhodopsin mutation in a family with recessive RP
-
Kumaramanickavel, G., M. Maw, M.J. Denton, S. John, C.R. Srisailapathy Srikumari, U. Orth, R. Oehlmann, and A. Gal. 1994. Missense rhodopsin mutation in a family with recessive RP. Nature Genet. 8: 10.
-
(1994)
Nature Genet.
, vol.8
, pp. 10
-
-
Kumaramanickavel, G.1
Maw, M.2
Denton, M.J.3
John, S.4
Srisailapathy Srikumari, C.R.5
Orth, U.6
Oehlmann, R.7
Gal, A.8
-
9
-
-
0021344005
-
Easy calculations of lod scores and genetic risks on small computers
-
Lathrop, G.M. and J.M. Lalouel. 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
-
10
-
-
0027159871
-
Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum
-
Lebwohl, M., E. Schwartz, G. Lemlich, O. Lovelace, F. Shaikh-Bahai, and R. Fleischmajer. 1993. Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum. Arch. Dermatol. Res. 285: 121-126.
-
(1993)
Arch. Dermatol. Res.
, vol.285
, pp. 121-126
-
-
Lebwohl, M.1
Schwartz, E.2
Lemlich, G.3
Lovelace, O.4
Shaikh-Bahai, F.5
Fleischmajer, R.6
-
11
-
-
0027954572
-
Classification of pseudoxanthoma elasticum: Report of a consensus conference
-
Lebwohl, M., K. Neldner, F.M. Pope, A. De Paepe, A.M. Christiano, C.D. Boyd, J. Uitto, and V.A. McKusick. 1994. Classification of pseudoxanthoma elasticum: Report of a consensus conference. J. Am. Acad. Dermat. 30: 103-107.
-
(1994)
J. Am. Acad. Dermat.
, vol.30
, pp. 103-107
-
-
Lebwohl, M.1
Neldner, K.2
Pope, F.M.3
De Paepe, A.4
Christiano, A.M.5
Boyd, C.D.6
Uitto, J.7
McKusick, V.A.8
-
12
-
-
0023785140
-
Macular degeneration in angioid streaks
-
Mansour, A.M., J.A. Shields, W.H. Annesley, Jr., F. El-Baba, W. Tasman, and T.L. Tomer. 1988. Macular degeneration in angioid streaks. Ophthalmologica 197: 36-41.
-
(1988)
Ophthalmologica
, vol.197
, pp. 36-41
-
-
Mansour, A.M.1
Shields, J.A.2
Annesley Jr., W.H.3
El-Baba, F.4
Tasman, W.5
Tomer, T.L.6
-
13
-
-
0023744791
-
Pseudoxanthoma elasticum
-
Neldner, K.H. 1988a. Pseudoxanthoma elasticum. Clin. Dermatol. 6: 1-159.
-
(1988)
Clin. Dermatol.
, vol.6
, pp. 1-159
-
-
Neldner, K.H.1
-
14
-
-
0023945660
-
Pseudoxanthoma elasticum
-
_. 1988b. Pseudoxanthoma elasticum. Int. J. Dermatol. 27: 98-100.
-
(1988)
Int. J. Dermatol.
, vol.27
, pp. 98-100
-
-
-
15
-
-
0028949919
-
Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus
-
Nikali K., A Suomalainen, J. Terwilliger, T. Koskinen, J. Weissenbach, and L. Peltonen. 1995. Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus. Am. J. Hum. Genet. 56: 1088-1095.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1088-1095
-
-
Nikali, K.1
Suomalainen, A.2
Terwilliger, J.3
Koskinen, T.4
Weissenbach, J.5
Peltonen, L.6
-
16
-
-
0028047232
-
Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family
-
Raybould, M.C., A.J. Birley, C. Moss, M. Hulten, and C.M. McKeown. 1994. Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family. Clin. Genet. 45: 48-51.
-
(1994)
Clin. Genet.
, vol.45
, pp. 48-51
-
-
Raybould, M.C.1
Birley, A.J.2
Moss, C.3
Hulten, M.4
McKeown, C.M.5
-
17
-
-
0027452148
-
Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa
-
Sung, C.-H., C.M. Davenport, and J. Nathans. 1993. Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. J. Biol. Chem. 35: 26645-26649.
-
(1993)
J. Biol. Chem.
, vol.35
, pp. 26645-26649
-
-
Sung, C.-H.1
Davenport, C.M.2
Nathans, J.3
-
18
-
-
0026604387
-
Cloning and characterization of a novel human cDNA that has a DNA similarity to the conserved region of the collagenase gene family
-
Templeton, N.S., L.A. Rodgers, A.T. Levy, K.L. Ting, H.C. Krutzsch, L.A. Liotta, and W.G. Stetler-Stevenson. 1992. Cloning and characterization of a novel human cDNA that has a DNA similarity to the conserved region of the collagenase gene family. Genomics 12: 175-176.
-
(1992)
Genomics
, vol.12
, pp. 175-176
-
-
Templeton, N.S.1
Rodgers, L.A.2
Levy, A.T.3
Ting, K.L.4
Krutzsch, H.C.5
Liotta, L.A.6
Stetler-Stevenson, W.G.7
-
19
-
-
0029893291
-
Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC). Cytogenet
-
van Soest, S., S. te Nijenhuis, L.I. van den Born, E.M. Bleeker-Wagemakers, E. Sharp, L.A. Sandkuijl, A. Westerveld, and A.A.B. Bergen. 1996. Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC). Cytogenet. Cell Genet. 73: 81-85.
-
(1996)
Cell Genet.
, vol.73
, pp. 81-85
-
-
Van Soest, S.1
Te Nijenhuis, S.2
Van Den Born, L.I.3
Bleeker-Wagemakers, E.M.4
Sharp, E.5
Sandkuijl, L.A.6
Westerveld, A.7
Bergen, A.A.B.8
-
20
-
-
0024582686
-
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
-
Weber, J.L. and P.E. May. 1989. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44: 388-396.
-
(1989)
Am. J. Hum. Genet.
, vol.44
, pp. 388-396
-
-
Weber, J.L.1
May, P.E.2
|