-
1
-
-
0002070475
-
On brachydactyly and symphalangism
-
London: Cambridge University Press
-
Bell J. 1951. On brachydactyly and symphalangism. In: Treasury of human inheritance, vol 5. London: Cambridge University Press. pp 1-31.
-
(1951)
Treasury of Human Inheritance
, vol.5
, pp. 1-31
-
-
Bell, J.1
-
2
-
-
0037428241
-
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
-
Bonifati V, Rizzu P, Van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, Van Dongen JW, Vanacore N, Van Swieten JC, Brice A, Meco G, Van Duijn CM, Oostra BA, Heutink P. 2003. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 10:256-259.
-
(2003)
Science
, vol.10
, pp. 256-259
-
-
Bonifati, V.1
Rizzu, P.2
Van Baren, M.J.3
Schaap, O.4
Breedveld, G.J.5
Krieger, E.6
Dekker, M.C.7
Squitieri, F.8
Ibanez, P.9
Joosse, M.10
Van Dongen, J.W.11
Vanacore, N.12
Van Swieten, J.C.13
Brice, A.14
Meco, G.15
Van Duijn, C.M.16
Oostra, B.A.17
Heutink, P.18
-
3
-
-
10744232719
-
The phenotype of PARK7-linked parkinsonism in clinical features and neuroimaging
-
Dekker MCJ, Bonifati V, van Swieten JC, Galjaard RJ, Snijders PJLM, Horstink M, Heutink P, Oostra BA, van Duijn CM. 2003. The phenotype of PARK7-linked parkinsonism in clinical features and neuroimaging. Mov Disord 18:751-758.
-
(2003)
Mov Disord
, vol.18
, pp. 751-758
-
-
Dekker, M.C.J.1
Bonifati, V.2
Van Swieten, J.C.3
Galjaard, R.J.4
Snijders, P.J.L.M.5
Horstink, M.6
Heutink, P.7
Oostra, B.A.8
Van Duijn, C.M.9
-
6
-
-
0028342914
-
The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q
-
Heutink P, Zguricas J, van Oosterhout L, Breedveld GJ, Testers L, Sandkuijl LA, Snijders PJ, Weissenbach J, Lindhout D, Hovius SE, Oostra BA. 1994. The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q. Nat Genet 6:287-292.
-
(1994)
Nat Genet
, vol.6
, pp. 287-292
-
-
Heutink, P.1
Zguricas, J.2
Van Oosterhout, L.3
Breedveld, G.J.4
Testers, L.5
Sandkuijl, L.A.6
Snijders, P.J.7
Weissenbach, J.8
Lindhout, D.9
Hovius, S.E.10
Oostra, B.A.11
-
7
-
-
0028857541
-
Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping
-
Kruglyak L, Daly MJ, Lander ES. 1995. Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 56:519-527.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 519-527
-
-
Kruglyak, L.1
Daly, M.J.2
Lander, E.S.3
-
8
-
-
0034906096
-
Oxidized forms of peroxiredoxins and DJ-1 on two-dimensional gels increased in response to sublethal levels of paraquat
-
Mitsumoto A, Nakagawa Y, Takeuchi A, Okawa K, Iwamatsu A, Takanezawa Y. 2001. Oxidized forms of peroxiredoxins and DJ-1 on two-dimensional gels increased in response to sublethal levels of paraquat. Free Radic Res 35:301-310.
-
(2001)
Free Radic Res
, vol.35
, pp. 301-310
-
-
Mitsumoto, A.1
Nakagawa, Y.2
Takeuchi, A.3
Okawa, K.4
Iwamatsu, A.5
Takanezawa, Y.6
-
9
-
-
0031043741
-
Clinical and locus heterogeneity in brachydactyly type C
-
Robin NH, Gunay-Aygun M, Polinkovsky A, Warman ML, Morrison S. 1997. Clinical and locus heterogeneity in brachydactyly type C. Am J Med Genet 68:369-377.
-
(1997)
Am J Med Genet
, vol.68
, pp. 369-377
-
-
Robin, N.H.1
Gunay-Aygun, M.2
Polinkovsky, A.3
Warman, M.L.4
Morrison, S.5
-
10
-
-
0030870848
-
Chromosome 1p36 deletions: The clinical phenotype and molecular characterization of a common newly delineated syndrome
-
Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FFB, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG. 1997. Chromosome 1p36 deletions: The clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 61:642-650.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 642-650
-
-
Shapira, S.K.1
McCaskill, C.2
Northrup, H.3
Spikes, A.S.4
Elder, F.F.B.5
Sutton, V.R.6
Korenberg, J.R.7
Greenberg, F.8
Shaffer, L.G.9
-
11
-
-
0034892917
-
PARK7, a novel locus for autosomal-recessive early-onset parkinsonism on chromosome 1p36
-
Van Duijn CM, Dekker MCJ, Bonifati V, Galjaard RJ, Houwing-Duistermaat JJ, Snijders PJLM, Testers L, Breedveld GJ, Horstink M, Sandkuijl L, van Swieten JC, Oostra BA, Heutink P. 2001. PARK7, a novel locus for autosomal-recessive early-onset parkinsonism on chromosome 1p36. Am J Hum Genet 69:629-634.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 629-634
-
-
Van Duijn, C.M.1
Dekker, M.C.J.2
Bonifati, V.3
Galjaard, R.J.4
Houwing-Duistermaat, J.J.5
Snijders, P.J.L.M.6
Testers, L.7
Breedveld, G.J.8
Horstink, M.9
Sandkuijl, L.10
Van Swieten, J.C.11
Oostra, B.A.12
Heutink, P.13
-
12
-
-
0031019481
-
Metacarpophalangeal pattern (MCPP) profile analysis in a family with triphalangeal thumb
-
Zguricas J, Dijkstra PF, Gelsema ES, Snijders PJ, Wustefeld HP, Venema HW, Hovius SE, Lindhout D. 1997. Metacarpophalangeal pattern (MCPP) profile analysis in a family with triphalangeal thumb. J Med Genet 34:55-62.
-
(1997)
J Med Genet
, vol.34
, pp. 55-62
-
-
Zguricas, J.1
Dijkstra, P.F.2
Gelsema, E.S.3
Snijders, P.J.4
Wustefeld, H.P.5
Venema, H.W.6
Hovius, S.E.7
Lindhout, D.8
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