-
1
-
-
0001432383
-
Une affection congenitale et symetrique du developpement osseux: La dyschondrosteose
-
A. Leri, and J. Weill Une affection congenitale et symetrique du developpement osseux: la dyschondrosteose Bull Mem Soc Med Hop (Paris) 53 1929 1491
-
(1929)
Bull Mem Soc Med Hop (Paris)
, vol.53
, pp. 1491
-
-
Leri, A.1
Weill, J.2
-
2
-
-
76549209070
-
Dyschondrosteosis, a hereditable bone dysplasia with characteristic roentgenographic features
-
L.O. Langer Jr. Dyschondrosteosis, a hereditable bone dysplasia with characteristic roentgenographic features Am J Roentgenol 95 1965 178 188
-
(1965)
Am J Roentgenol
, vol.95
, pp. 178-188
-
-
Langer Jr., L.O.1
-
3
-
-
2442641275
-
Statural growth in 31 Japanese patients with SHOX haploinsufficiency: Support for a disadvantageous effect of gonadal estrogens
-
M. Fukami, Y. Nishi, Y. Hasegawa, Y. Miyoshi, T. Okabe, and N. Haga Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens Endocr J 51 2004 197 200
-
(2004)
Endocr J
, vol.51
, pp. 197-200
-
-
Fukami, M.1
Nishi, Y.2
Hasegawa, Y.3
Miyoshi, Y.4
Okabe, T.5
Haga, N.6
-
4
-
-
17344363774
-
Shox mutations in dyschondrosteosis (Leri-Weill-Syndrome)
-
V. Belin, V. Cusin, G. Viot, D. Girlich, A. Toutain, and A. Moncla Shox mutations in dyschondrosteosis (Leri-Weill-Syndrome) Nat Genet 19 1998 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
-
5
-
-
0033431823
-
SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome
-
V. Cormier-Daire, V. Belin, V. Cusin, G. Viot, D. Girlich, and A. Toutain SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome Acta Paediatr Suppl 88 1999 55 59
-
(1999)
Acta Paediatr Suppl
, vol.88
, pp. 55-59
-
-
Cormier-Daire, V.1
Belin, V.2
Cusin, V.3
Viot, G.4
Girlich, D.5
Toutain, A.6
-
6
-
-
0033596978
-
Leri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3
-
S. Spranger, S. Schiller, A. Jauch, K. Wolff, I. Rauterberg-Ruland, and D. Hager Leri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3 Am J Med Genet 83 1999 367 371
-
(1999)
Am J Med Genet
, vol.83
, pp. 367-371
-
-
Spranger, S.1
Schiller, S.2
Jauch, A.3
Wolff, K.4
Rauterberg-Ruland, I.5
Hager, D.6
-
7
-
-
0033994671
-
Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome
-
S. Schiller, S. Spranger, B. Schechinger, M. Fukami, S. Merker, and S.L. Drop Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome Eur J Hum Genet 8 2000 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
-
8
-
-
0031747158
-
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
-
D.J. Shears, H.J. Vassal, F.R. Goodman, R.W. Palmer, W. Reardon, and A. Superti-Furga Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis Nat Genet 19 1998 70 73
-
(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
-
9
-
-
18044404490
-
Histopathological analysis of Leri-Weill dyschondrosteosis: Disordered growth plate
-
C.F. Munns, I.A. Glass, R. LaBrom, M. Hayes, S. Flanagan, and M. Berry Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate Hand Surg 6 2001 13 23
-
(2001)
Hand Surg
, vol.6
, pp. 13-23
-
-
Munns, C.F.1
Glass, I.A.2
Labrom, R.3
Hayes, M.4
Flanagan, S.5
Berry, M.6
-
10
-
-
0035451571
-
A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis from his father
-
F. Wei, C. Scott, L. Nicholson, J.L. Ross, and A.R. Zinn A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis from his father Am J Med Genet 102 2001 353 358
-
(2001)
Am J Med Genet
, vol.102
, pp. 353-358
-
-
Wei, F.1
Scott, C.2
Nicholson, L.3
Ross, J.L.4
Zinn, A.R.5
-
11
-
-
18044379322
-
Phenotypes Associated with SHOX Deficiency
-
J.L. Ross, C. Scott Jr., P. Marttila, K. Kowal, A. Nass, and P. Papenhausen Phenotypes Associated with SHOX Deficiency J Clin Endocrinol Metab 86 2001 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
-
13
-
-
0018345654
-
Physical growth: National Center for Health Statistics percentiles
-
P.V. Hamill, T.A. Drizd, C.L. Johnson, R.B. Reed, A.F. Roche, and W.M. Moore Physical growth: National Center for Health Statistics percentiles Am J Clin Nutr 32 1979 607 629
-
(1979)
Am J Clin Nutr
, vol.32
, pp. 607-629
-
-
Hamill, P.V.1
Drizd, T.A.2
Johnson, C.L.3
Reed, R.B.4
Roche, A.F.5
Moore, W.M.6
-
15
-
-
0014524644
-
Variations in pattern of pubertal changes in girls
-
W.A. Marshall, and J.M. Tanner Variations in pattern of pubertal changes in girls Arch Dis Child 44 1969 291 303
-
(1969)
Arch Dis Child
, vol.44
, pp. 291-303
-
-
Marshall, W.A.1
Tanner, J.M.2
-
16
-
-
0032471420
-
Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1
-
A.R. Zinn, V.S. Tonk, Z. Chen, W.L. Flejter, H.A. Gardner, and R. Guerra Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1 Am J Hum Genet 63 1998 1757 1766
-
(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
-
18
-
-
0034621779
-
CDC growth charts: United States
-
R.J. Kuczmarski, C.L. Ogden, L.M. Grummer-Strawn, K.M. Flegal, S.S. Guo, and R. Wei CDC growth charts: United States Adv Data 314 2000 1 27
-
(2000)
Adv Data
, vol.314
, pp. 1-27
-
-
Kuczmarski, R.J.1
Ogden, C.L.2
Grummer-Strawn, L.M.3
Flegal, K.M.4
Guo, S.S.5
Wei, R.6
-
19
-
-
0014525649
-
Intrauterine growth of live-born Caucasian infants at sea level: Standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation
-
R. Usher, and F. McLean Intrauterine growth of live-born Caucasian infants at sea level: standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation J Pediatr 74 1969 901 910
-
(1969)
J Pediatr
, vol.74
, pp. 901-910
-
-
Usher, R.1
McLean, F.2
-
22
-
-
0035869223
-
Prediction of deleterious human alleles
-
S. Sunyaev, V. Ramensky, I. Koch, W. Lathe III, A.S. Kondrashov, and P. Bork Prediction of deleterious human alleles Hum Mol Genet 10 2001 591 597
-
(2001)
Hum Mol Genet
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe III, W.4
Kondrashov, A.S.5
Bork, P.6
-
23
-
-
0035034187
-
SHOX point mutations in dyschondrosteosis
-
C. Huber, V. Cusin, M. Le Merrer, M. Mathieu, V. Sulmont, and N. Dagoneau SHOX point mutations in dyschondrosteosis J Med Genet 38 2001 323
-
(2001)
J Med Genet
, vol.38
, pp. 323
-
-
Huber, C.1
Cusin, V.2
Le Merrer, M.3
Mathieu, M.4
Sulmont, V.5
Dagoneau, N.6
-
24
-
-
0036599370
-
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis
-
C. Falcinelli, L. Iughetti, A. Percesepe, G. Calabrese, F. Chiarelli, and M. Cisternino SHOX point mutations and deletions in Leri-Weill dyschondrosteosis J Med Genet 39 2002 E33
-
(2002)
J Med Genet
, vol.39
, pp. 33
-
-
Falcinelli, C.1
Iughetti, L.2
Percesepe, A.3
Calabrese, G.4
Chiarelli, F.5
Cisternino, M.6
-
25
-
-
0036160517
-
Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)
-
V. Cormier-Daire, C. Huber, and A. Munnich Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome) Am J Med Genet 106 2001 272 274
-
(2001)
Am J Med Genet
, vol.106
, pp. 272-274
-
-
Cormier-Daire, V.1
Huber, C.2
Munnich, A.3
-
26
-
-
10744226905
-
Familial growth and skeletal features associated with SHOX haploinsufficiency
-
C.F. Munns, I.A. Glass, S. Flanagan, M. Hayes, B. Williams, and M. Berry Familial growth and skeletal features associated with SHOX haploinsufficiency J Pediatr Endocrinol Metab 16 2003 987 996
-
(2003)
J Pediatr Endocrinol Metab
, vol.16
, pp. 987-996
-
-
Munns, C.F.1
Glass, I.A.2
Flanagan, S.3
Hayes, M.4
Williams, B.5
Berry, M.6
-
27
-
-
0030979167
-
Rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina
-
T. Furukawa, C.A. Kozak, and C.L. Cepko Rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina Proc Natl Acad Sci U S A 94 1997 3088 3093
-
(1997)
Proc Natl Acad Sci U S a
, vol.94
, pp. 3088-3093
-
-
Furukawa, T.1
Kozak, C.A.2
Cepko, C.L.3
-
28
-
-
0035894660
-
The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator
-
E. Rao, R.J. Blaschke, A. Marchini, B. Niesler, M. Burnett, and G.A. Rappold The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator Hum Mol Genet 10 2001 3083 3091
-
(2001)
Hum Mol Genet
, vol.10
, pp. 3083-3091
-
-
Rao, E.1
Blaschke, R.J.2
Marchini, A.3
Niesler, B.4
Burnett, M.5
Rappold, G.A.6
-
29
-
-
19444385219
-
A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Leri-Weill dyschondrosteosis and Langer dysplasia
-
N. Sabherwal, R.J. Blaschke, A. Marchini, D. Heine-Suner, J. Rosell, and J. Ferragut A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Leri-Weill dyschondrosteosis and Langer dysplasia J Med Genet 41 2004 e83
-
(2004)
J Med Genet
, vol.41
, pp. 83
-
-
Sabherwal, N.1
Blaschke, R.J.2
Marchini, A.3
Heine-Suner, D.4
Rosell, J.5
Ferragut, J.6
-
30
-
-
4344560627
-
The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes
-
A. Marchini, T. Marttila, A. Winter, S. Caldeira, I. Malanchi, and R.J. Blaschke The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes J Biol Chem 279 2004 37103 37114
-
(2004)
J Biol Chem
, vol.279
, pp. 37103-37114
-
-
Marchini, A.1
Marttila, T.2
Winter, A.3
Caldeira, S.4
Malanchi, I.5
Blaschke, R.J.6
-
31
-
-
0242351788
-
Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature
-
G. Binder, M.B. Ranke, and D.D. Martin Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature J Clin Endocrinol Metab 88 2003 4891 4896
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 4891-4896
-
-
Binder, G.1
Ranke, M.B.2
Martin, D.D.3
-
32
-
-
4544383265
-
SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: Prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity
-
G. Binder, A. Renz, A. Martinez, A. Keselman, V. Hesse, and S.W. Riedl SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity J Clin Endocrinol Metab 89 2004 4403 4408
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 4403-4408
-
-
Binder, G.1
Renz, A.2
Martinez, A.3
Keselman, A.4
Hesse, V.5
Riedl, S.W.6
-
33
-
-
0029021639
-
Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features
-
T. Ogata, and N. Matsuo Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features Hum Genet 95 1995 607 629
-
(1995)
Hum Genet
, vol.95
, pp. 607-629
-
-
Ogata, T.1
Matsuo, N.2
-
34
-
-
0142216492
-
Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function
-
M. Fukami, N. Matsuo, T. Hasegawa, S. Sato, and T. Ogata Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function Eur J Endocrinol 149 2003 337 341
-
(2003)
Eur J Endocrinol
, vol.149
, pp. 337-341
-
-
Fukami, M.1
Matsuo, N.2
Hasegawa, T.3
Sato, S.4
Ogata, T.5
-
35
-
-
0035133355
-
SHOX haploinsufficiency and overdosage: Impact of gonadal function status
-
T. Ogata, N. Matsuo, and G. Nishimura SHOX haploinsufficiency and overdosage: impact of gonadal function status [in process citation] J Med Genet 38 2001 1 6
-
(2001)
J Med Genet
, vol.38
, pp. 1-6
-
-
Ogata, T.1
Matsuo, N.2
Nishimura, G.3
-
36
-
-
0036304536
-
Estrogen receptor-alpha and -beta are expressed throughout postnatal development in the rat and rabbit growth plate
-
O. Nilsson, V. Abad, D. Chrysis, E.M. Ritzen, L. Savendahl, and J. Baron Estrogen receptor-alpha and -beta are expressed throughout postnatal development in the rat and rabbit growth plate J Endocrinol 173 2002 407 414
-
(2002)
J Endocrinol
, vol.173
, pp. 407-414
-
-
Nilsson, O.1
Abad, V.2
Chrysis, D.3
Ritzen, E.M.4
Savendahl, L.5
Baron, J.6
-
37
-
-
0346220283
-
Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX
-
R.J. Blaschke, C. Topfer, A. Marchini, H. Steinbeisser, J.W. Janssen, and G.A. Rappold Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX J Biol Chem 278 2003 47820 47826
-
(2003)
J Biol Chem
, vol.278
, pp. 47820-47826
-
-
Blaschke, R.J.1
Topfer, C.2
Marchini, A.3
Steinbeisser, H.4
Janssen, J.W.5
Rappold, G.A.6
-
39
-
-
3543004180
-
Wrist anomalies in Turner syndrome compared with Leri-Weill dyschondrosteosis: A new feature in Turner syndrome
-
M. Tauber, N. Lounis, J. Coulet, C. Baunin, J.P. Cahuzac, and P. Rochiccioli Wrist anomalies in Turner syndrome compared with Leri-Weill dyschondrosteosis: a new feature in Turner syndrome Eur J Pediatr 163 2004 475 481
-
(2004)
Eur J Pediatr
, vol.163
, pp. 475-481
-
-
Tauber, M.1
Lounis, N.2
Coulet, J.3
Baunin, C.4
Cahuzac, J.P.5
Rochiccioli, P.6
-
40
-
-
17144464108
-
The short stature homeobox gene SHOX is involved in skeletal abnormalities in turner syndrome
-
M. Clement-Jones, S. Schiller, E. Rao, R.J. Blaschke, A. Zuniga, and R. Zeller The short stature homeobox gene SHOX is involved in skeletal abnormalities in turner syndrome [in process citation] Hum Mol Genet 9 2000 695 702
-
(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
-
41
-
-
0007001091
-
Dyschondrosteosis: Clinical study of a sixth generation family
-
L.G. Jackson Dyschondrosteosis: clinical study of a sixth generation family Proc Greenwood Genet Center 4 1985 147 148
-
(1985)
Proc Greenwood Genet Center
, vol.4
, pp. 147-148
-
-
Jackson, L.G.1
|