-
2
-
-
0029021639
-
Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features
-
(1995)
Hum Genet
, vol.95
, pp. 607-629
-
-
Ogata, T.1
Matsuo, N.2
-
3
-
-
0030940217
-
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
-
(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
Rowenthal, A.15
Ogata, T.16
Rappold, G.17
-
5
-
-
17344363774
-
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
-
(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
-
6
-
-
0031747158
-
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
-
(1998)
Nat Genet
, vol.19
, pp. 70-73
-
-
Shears, D.J.1
Vassal, H.J.2
Goodman, F.R.3
Palmer, R.W.4
Reardon, W.5
Superti-Furga, A.6
Scambler, P.H.7
Winter, R.M.8
-
7
-
-
0033305653
-
Skeletal features and growth Patterns in 14 patients with haploinsufficiency of SHOX: Implications for the development of Turner syndrome
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4613-4621
-
-
Kosho, T.1
Muroya, K.2
Nagai, T.3
Fujimoto, M.4
Yokoya, S.5
Sakamoto, H.6
Hirano, T.7
Terasaki, H.8
Ohashi, H.9
Nishimura, G.10
Sato, S.11
Matsuo, N.12
Ogata, T.13
-
8
-
-
17144464108
-
The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
-
(2000)
Hum Mol Genet
, vol.9
, pp. 695-702
-
-
Clement-Jones, M.1
Schiller, S.2
Rao, E.3
Blaschke, R.J.4
Zuniga, A.5
Zeller, R.6
Robson, S.C.7
Binder, G.8
Glass, I.9
Strachan, T.10
Lindsay, S.11
Rappold, G.A.12
-
9
-
-
0033994671
-
Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome
-
(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
-
10
-
-
0002109872
-
Gonadal dysgenesis in sex chromosome aberrations is explained by meiotic pairing failure
-
Hibi I, Tanaka T, eds. Rome: Ares-Serono Symposia Publications
-
(1996)
Frontiers in endocrinology
, vol.17
, pp. 15-22
-
-
Ogata, T.1
Matsuo, N.2
-
17
-
-
0027219490
-
Sex chromosome aberrations and stature: Deduction of the principal factors involved in the determination of adult height
-
(1993)
Hum Genet
, vol.91
, pp. 551-562
-
-
Ogata, T.1
Matsuo, N.2
-
22
-
-
0029071144
-
Refinement of the locus for X-linked recessive chondrodysplasia punctata
-
(1995)
Hum Genet
, vol.95
, pp. 577-580
-
-
Muroya, K.1
Ogata, T.2
Rappold, G.3
Klink, A.4
Nakahori, Y.5
Fukushima, Y.6
Aizu, I.7
Matsuo, N.8
-
28
-
-
76549209070
-
Dyschondrosteosis, a heritable bone dysplasia with characteristic roentogenographic features
-
(1965)
Am J Roentgenol
, vol.95
, pp. 178-188
-
-
Langer L.O., Jr.1
-
30
-
-
0026629176
-
Standards for growth and growth velocity in Turner's syndrome
-
(1992)
Acta Paediatr Jpn
, vol.34
, pp. 206-220
-
-
Suwa, S.1
-
32
-
-
0032977875
-
A decade of growth hormone treatrnent in girls with Turner syndrome in the UK
-
(1999)
Arch Dis Child
, vol.80
, pp. 221-225
-
-
Betts, P.R.1
Butler, G.E.2
Donaldson, M.D.C.3
Dunger, D.B.4
Johnston, K.I.5
Kelnar, C.J.6
Kirk, J.7
Price, D.A.8
Wilton, P.9
-
33
-
-
0002964154
-
Puberty: Ontogeny, neuroendocrinology, physiology, and disorders
-
Wilson JD, Foster DW, Kronenberg HM, Larsen PR, eds. Philadelphia: Saunders
-
(1998)
Williams textbook of endocrinology, 9th Ed.
, pp. 1509-1625
-
-
Grumbach, M.M.1
Styne, D.M.2
-
37
-
-
0032471420
-
Evidence for a Turner syndrome locus or 1oc4 at Xp12.2-22.1
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1757-1766
-
-
Zinn, A.R.1
Tonk, V.S.2
Chen, Z.3
Flejter, W.L.4
Gardner, H.A.5
Guerra, R.6
Kushner, H.7
Schwartz, S.8
Sybert, V.P.9
Van Dyke, D.L.10
Ross, J.L.11
-
38
-
-
0031798509
-
A study of females with deletions of the short arm of the X chromosome
-
(1998)
Hum Genet
, vol.123
, pp. 507-516
-
-
James, R.J.1
Coppin, B.2
Dalton, P.3
Dennis, N.R.4
Mitchell, C.5
Sharp, A.H.6
Skuse, D.H.7
Thomas, N.S.8
Jacobs, P.A.9
-
39
-
-
0021740877
-
Random X inactivation resulting in mosaic nullisomy of region X21.1-p21.3 associated with heterozygosity for ornithine transcaramylase deficiency and for chronic granulomatous disease
-
(1984)
Cytogenet Cell Genet
, vol.38
, pp. 298-307
-
-
Francke, U.1
-
44
-
-
0023754181
-
Somatic mosaicism: Observations related to clinical genetics
-
(1988)
Am J Hum Genet
, vol.43
, pp. 355-363
-
-
Hall, J.G.1
|