-
1
-
-
48249123755
-
A variant in the sonic hedgehog regulatory sequence (ZRS)is associated with triphalangeal thumb and deregulates expression in the developing limb
-
Furniss D, Lettice LA, Taylor IB, Critchley PS, Giele H, Hill RE, Wilkie AO. 2008. A variant in the sonic hedgehog regulatory sequence (ZRS)is associated with triphalangeal thumb and deregulates expression in the developing limb. Hum Mol Genet 17:2417-2423.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2417-2423
-
-
Furniss, D.1
Lettice, L.A.2
Taylor, I.B.3
Critchley, P.S.4
Giele, H.5
Hill, R.E.6
Wilkie, A.O.7
-
2
-
-
0026078949
-
Bilateral complete polysyndactyly (type IV Haas)
-
Gillessen-Kaesbach G, Majewski F. 1991. Bilateral complete polysyndactyly (type IV Haas). Am J Med Genet 38:29-31.
-
(1991)
Am J Med Genet
, vol.38
, pp. 29-31
-
-
Gillessen-Kaesbach, G.1
Majewski, F.2
-
3
-
-
33846021644
-
Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly
-
Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MB. 2007. Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly. Am J Med Genet Part A 143A:27-32.
-
(2007)
Am J Med Genet
, vol.143 A
, Issue.PART A
, pp. 27-32
-
-
Gurnett, C.A.1
Bowcock, A.M.2
Dietz, F.R.3
Morcuende, J.A.4
Murray, J.C.5
Dobbs, M.B.6
-
4
-
-
50349122207
-
Bilateral complete syndactylism of all fingers
-
Haas SL. 1940. Bilateral complete syndactylism of all fingers. Am J Surg 50:363-366.
-
(1940)
Am J Surg
, vol.50
, pp. 363-366
-
-
Haas, S.L.1
-
5
-
-
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
-
6
-
-
0034679874
-
Are triphalangeal thumb-polysyn-dactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly- tripha-langeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family
-
Kantaputra PN, Chalidapong P. 2000. Are triphalangeal thumb-polysyn-dactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly- tripha-langeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family. Am J Med Genet 93:126-131.
-
(2000)
Am J Med Genet
, vol.93
, pp. 126-131
-
-
Kantaputra, P.N.1
Chalidapong, P.2
-
7
-
-
45249110444
-
A microduplication of the long range SHH limb regulator (ZRS)is associated with triphalangeal thumb-polysyndactyly syndrome
-
Klopocki E, Ott CE, Benatar N, Ullmann R, Mundlos S, Lehmann K. 2008. A microduplication of the long range SHH limb regulator (ZRS)is associated with triphalangeal thumb-polysyndactyly syndrome. J Med Genet 45:370-375.
-
(2008)
J Med Genet
, vol.45
, pp. 370-375
-
-
Klopocki, E.1
Ott, C.E.2
Benatar, N.3
Ullmann, R.4
Mundlos, S.5
Lehmann, K.6
-
8
-
-
0037188510
-
Disruption ofa long-range cis-acting regulator for Shh causes preaxial polydactyly
-
Lettice LA, Horikoshi T, Heaney SJ, van Baren MJ, van der Linde HC, Breedveld GJ, Joosse M, Akarsu N, Oostra BA, Endo N, Shibata M, Suzuki M, Takahashi E, Shinka T, Nakahori Y, Ayusawa D, Nakabayashi K, Scherer SW, Heutink P, Hill RE, Noji S. 2002. Disruption ofa long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci USA 99:7548-7553.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 7548-7553
-
-
Lettice, L.A.1
Horikoshi, T.2
Heaney, S.J.3
van Baren, M.J.4
van der Linde, H.C.5
Breedveld, G.J.6
Joosse, M.7
Akarsu, N.8
Oostra, B.A.9
Endo, N.10
Shibata, M.11
Suzuki, M.12
Takahashi, E.13
Shinka, T.14
Nakahori, Y.15
Ayusawa, D.16
Nakabayashi, K.17
Scherer, S.W.18
Heutink, P.19
Hill, R.E.20
Noji, S.21
more..
-
9
-
-
0042810698
-
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
-
Lettice LA, Heaney SJ, Purdie LA, Li L, de Beer P, Oostra BA, Goode D, Elgar G, Hill RE, de Graaff E. 2003. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet 12:1725-1735.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1725-1735
-
-
Lettice, L.A.1
Heaney, S.J.2
Purdie, L.A.3
Li, L.4
de Beer, P.5
Oostra, B.A.6
Goode, D.7
Elgar, G.8
Hill, R.E.9
de Graaff, E.10
-
10
-
-
0025784624
-
Syndactyly type IV/hexadactyly of feet associated with unilateral absence of the tibia
-
Rambaud-Cousson A, Dudin AA, Zuaiter AS, Thalji A. 1991. Syndactyly type IV/hexadactyly of feet associated with unilateral absence of the tibia. Am J Med Genet 40:144-145.
-
(1991)
Am J Med Genet
, vol.40
, pp. 144-145
-
-
Rambaud-Cousson, A.1
Dudin, A.A.2
Zuaiter, A.S.3
Thalji, A.4
-
11
-
-
34249676423
-
A syndactyly type IV locus maps to 7q36
-
Sato D, Liang D, Wu L, Pan Q, Xia K, Dai H, Wang H, Nishimura G, Yoshiura K, Xia J, Niikawa N. 2007. A syndactyly type IV locus maps to 7q36. J Hum Genet 52:561-564.
-
(2007)
J Hum Genet
, vol.52
, pp. 561-564
-
-
Sato, D.1
Liang, D.2
Wu, L.3
Pan, Q.4
Xia, K.5
Dai, H.6
Wang, H.7
Nishimura, G.8
Yoshiura, K.9
Xia, J.10
Niikawa, N.11
-
12
-
-
51849131025
-
Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long-range, limb-specific SHH enhancer
-
Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo W, Zhang X. 2008. Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long-range, limb-specific SHH enhancer. J Med Genet 45:589-595.
-
(2008)
J Med Genet
, vol.45
, pp. 589-595
-
-
Sun, M.1
Ma, F.2
Zeng, X.3
Liu, Q.4
Zhao, X.L.5
Wu, F.X.6
Wu, G.P.7
Zhang, Z.F.8
Gu, B.9
Zhao, Y.F.10
Tian, S.H.11
Lin, B.12
Kong, X.Y.13
Zhang, X.L.14
Yang, W.15
Lo, W.16
Zhang, X.17
-
13
-
-
0028243574
-
A complex bilateral polysyndactyly disease locus maps to chromosome 7q36
-
Tsukurov O, Boehmer A, Flynn J, Nicolai JP, Hamel BCJ, Traill S, Zaleske D, Mankin HJ, Yeon H, Ho C, Tabin C, Seidman JG, Seidman C. 1994. A complex bilateral polysyndactyly disease locus maps to chromosome 7q36. Nat Genet 6:282-286.
-
(1994)
Nat Genet
, vol.6
, pp. 282-286
-
-
Tsukurov, O.1
Boehmer, A.2
Flynn, J.3
Nicolai, J.P.4
Hamel, B.C.J.5
Traill, S.6
Zaleske, D.7
Mankin, H.J.8
Yeon, H.9
Ho, C.10
Tabin, C.11
Seidman, J.G.12
Seidman, C.13
-
14
-
-
0032961403
-
Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36
-
Zguricas J, Heus H, Morales-Peralta E, Breedveld G, Kuyt B, Mumcu EF, Bakker W, Akarsu N, Kay SP, Hovius SE, Heredero-Baute L, Oostra BA, Heutink P. 1999. Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36. J Med Genet 36:32-40.
-
(1999)
J Med Genet
, vol.36
, pp. 32-40
-
-
Zguricas, J.1
Heus, H.2
Morales-Peralta, E.3
Breedveld, G.4
Kuyt, B.5
Mumcu, E.F.6
Bakker, W.7
Akarsu, N.8
Kay, S.P.9
Hovius, S.E.10
Heredero-Baute, L.11
Oostra, B.A.12
Heutink, P.13
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