-
1
-
-
17344363774
-
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
-
Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V (1998) SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet 19:67-69
-
(1998)
Nat Genet
, vol.19
, pp. 67-69
-
-
Belin, V.1
Cusin, V.2
Viot, G.3
Girlich, D.4
Toutain, A.5
Moncla, A.6
Vekemans, M.7
Le Merrer, M.8
Munnich, A.9
Cormier-Daire, V.10
-
2
-
-
0030940217
-
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
-
Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16:54-63
-
(1997)
Nat Genet
, vol.16
, pp. 54-63
-
-
Rao, E.1
Weiss, B.2
Fukami, M.3
Rump, A.4
Niesler, B.5
Mertz, A.6
Muroya, K.7
Binder, G.8
Kirsch, S.9
Winkelmann, M.10
Nordsiek, G.11
Heinrich, U.12
Breuning, M.H.13
Ranke, M.B.14
Rosenthal, A.15
Ogata, T.16
Rappold, G.A.17
-
3
-
-
0031681330
-
Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: Isolation of the gene ASMTL
-
Ried K, Rao E, Schiebel K, Rappold GA (1998) Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL. Hum Mol Genet 7:1771-1778
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1771-1778
-
-
Ried, K.1
Rao, E.2
Schiebel, K.3
Rappold, G.A.4
-
4
-
-
0033846539
-
The Turner syndrome-associated neurocognitive phenotype maps to distal Xp
-
Ross JL, Roeltgen D, Kushner H, Wei F, Zinn AR (2000) The Turner syndrome-associated neurocognitive phenotype maps to distal Xp. Am J Hum Genet 67:672-681
-
(2000)
Am J Hum Genet
, vol.67
, pp. 672-681
-
-
Ross, J.L.1
Roeltgen, D.2
Kushner, H.3
Wei, F.4
Zinn, A.R.5
-
5
-
-
18044379322
-
Phenotypes associated with SHOX deficiency
-
Ross JL, Scott C Jr, Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn AR (2001) Phenotypes associated with SHOX deficiency. J Clin Endocrinol Metab 86:5674-5680
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 5674-5680
-
-
Ross, J.L.1
Scott Jr., C.2
Marttila, P.3
Kowal, K.4
Nass, A.5
Papenhausen, P.6
Abboudi, J.7
Osterman, L.8
Kushner, H.9
Carter, P.10
Ezaki, M.11
Elder, F.12
Wei, F.13
Chen, H.14
Zinn, A.R.15
-
6
-
-
0033994671
-
Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome
-
Schiller S, Spranger S, Schechinger B, Fukami M, Merker S, Drop SL, Troger J, Knoblauch H, Kunze J, Seidel J, Rappold GA (2000) Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome. Eur J Hum Genet 8:54-62
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 54-62
-
-
Schiller, S.1
Spranger, S.2
Schechinger, B.3
Fukami, M.4
Merker, S.5
Drop, S.L.6
Troger, J.7
Knoblauch, H.8
Kunze, J.9
Seidel, J.10
Rappold, G.A.11
-
7
-
-
20544466466
-
Identification of a major recombination hotspot in patients with short stature and SHOX deficiency
-
Schneider KU, Sabherwal N, Jantz K, Röth R, Muncke N, Blum WF, Cutler GB Jr, Rappold G (2005) Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. Am J Hum Genet 77:89-96
-
(2005)
Am J Hum Genet
, vol.77
, pp. 89-96
-
-
Schneider, K.U.1
Sabherwal, N.2
Jantz, K.3
Röth, R.4
Muncke, N.5
Blum, W.F.6
Cutler Jr., G.B.7
Rappold, G.8
-
8
-
-
20544462642
-
Segmental duplications and copy-number variation in the human genome
-
Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, Oseroff W, Albertson DG, Pinkel D, Eichler EE (2005) Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 77:78-88
-
(2005)
Am J Hum Genet
, vol.77
, pp. 78-88
-
-
Sharp, A.J.1
Locke, D.P.2
McGrath, S.D.3
Cheng, Z.4
Bailey, J.A.5
Vallente, R.U.6
Pertz, L.M.7
Clark, R.A.8
Schwartz, S.9
Segraves, R.10
Oseroff, W.11
Albertson, D.G.12
Pinkel, D.13
Eichler, E.E.14
-
9
-
-
0035451571
-
A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father
-
Wei F, Cheng S, Badie N, Elder F, Scott C Jr, Nicholson L, Ross JL, Zinn AR (2001) A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father. Am J Med Genet 102:353-358
-
(2001)
Am J Med Genet
, vol.102
, pp. 353-358
-
-
Wei, F.1
Cheng, S.2
Badie, N.3
Elder, F.4
Scott Jr., C.5
Nicholson, L.6
Ross, J.L.7
Zinn, A.R.8
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