-
1
-
-
0029774769
-
Molecular basis of inherited growth hormone resistance
-
In Ross RJM., Savage MO., eds. Ballière Tindall
-
Amselem S, Sobrier ML, Dastot F, et al.: 1996. Molecular basis of inherited growth hormone resistance. In Ross RJM., Savage MO., eds. Clinical Endocrinology and Metabolism: Growth Hormone Resistance. Ballière Tindall, pp 353-369.
-
(1996)
Clinical Endocrinology and Metabolism: Growth Hormone Resistance
, pp. 353-369
-
-
Amselem, S.1
Sobrier, M.L.2
Dastot, F.3
-
2
-
-
0029090131
-
Evidence for partial growth hormone insensitivity among patients with idiopathic short stature
-
for the National Cooperative Growth Study, Attie KM, Carlsson LMS, Rundle AC, Sherman B Evidence for partial growth hormone insensitivity among patients with idiopathic short stature. J Pediatr. 127:1995;244-250.
-
(1995)
J Pediatr
, vol.127
, pp. 244-250
-
-
For The National Cooperative Growth Study1
Attie, K.M.2
Carlsson, L.M.S.3
Rundle, A.C.4
Sherman, B.5
-
3
-
-
0031133077
-
A dominant-negative mutation of the growth hormone receptor causes familial short stature [letter]
-
Ayling RM, Ross R, Towner Pet al. A dominant-negative mutation of the growth hormone receptor causes familial short stature [letter]. Nat Genet. 16:1997;13-14.
-
(1997)
Nat Genet
, vol.16
, pp. 13-14
-
-
Ayling, R.M.1
Ross, R.2
Towner, P.3
-
4
-
-
0027024834
-
Mutation creating a new splice site in the growth hormone receptor gene of 37 Ecuadorian patients with Laron syndrome
-
Berg MA, Guevara-Aguirre J, Rosenbloom AL, Rosenfeld RG, Franke U Mutation creating a new splice site in the growth hormone receptor gene of 37 Ecuadorian patients with Laron syndrome. Hum Mutat. 1:1992;24-34.
-
(1992)
Hum Mutat
, vol.1
, pp. 24-34
-
-
Berg, M.A.1
Guevara-Aguirre, J.2
Rosenbloom, A.L.3
Rosenfeld, R.G.4
Franke, U.5
-
5
-
-
0028411031
-
Improvement of diagnostic criteria in growth hormone insensitivity syndrome: Solutions and pitfalls
-
Blum WF, Cotterill AM, Postel-Vinay MC, Ranke MB, Savage MO, Wilton P Improvement of diagnostic criteria in growth hormone insensitivity syndrome: solutions and pitfalls. Acta Paediatr Suppl. 399:1994;117-124.
-
(1994)
Acta Paediatr Suppl
, vol.399
, pp. 117-124
-
-
Blum, W.F.1
Cotterill, A.M.2
Postel-Vinay, M.C.3
Ranke, M.B.4
Savage, M.O.5
Wilton, P.6
-
6
-
-
0029756506
-
Partial growth hormone insensitivity in childhood
-
In Ross RJM, Savage MO, eds. Ballière Tindall
-
Carlsson LMS: 1996. Partial growth hormone insensitivity in childhood. In Ross RJM, Savage MO, eds. Clinical Endocrinology and Metabolism: Growth Hormone Resistance. Ballière Tindall, pp 389-400.
-
(1996)
Clinical Endocrinology and Metabolism: Growth Hormone Resistance
, pp. 389-400
-
-
Carlsson, L.M.S.1
-
7
-
-
0029890609
-
No correlation of growth hormone receptor gene mutation P561T with body height
-
Chujo S, Kaji H, Takahashi Y, Okimura Y, Abe H, Chichara K No correlation of growth hormone receptor gene mutation P561T with body height. Eur J Endocrinol. 134:1996;560-562.
-
(1996)
Eur J Endocrinol
, vol.134
, pp. 560-562
-
-
Chujo, S.1
Kaji, H.2
Takahashi, Y.3
Okimura, Y.4
Abe, H.5
Chichara, K.6
-
8
-
-
0028294901
-
A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerisation
-
Duquesnoy P, Sobrier ML, Duriez Bet al. A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerisation. EMBO. J 13:1994;1386-1395.
-
(1994)
EMBO
, vol.13
, pp. 1386-1395
-
-
Duquesnoy, P.1
Sobrier, M.L.2
Duriez, B.3
-
9
-
-
85011454547
-
Activation of the signal transducers and activators of transcription signalling pathway by growth hormone (GH) in skin fibroblasts from normal and GH binding protein-positive Laron syndrome children
-
Freeth JS, Silva CM, Whatmore AJ, Clayton PE Activation of the signal transducers and activators of transcription signalling pathway by growth hormone (GH) in skin fibroblasts from normal and GH binding protein-positive Laron syndrome children. Endocrinology. 139:1998;20-28.
-
(1998)
Endocrinology
, vol.139
, pp. 20-28
-
-
Freeth, J.S.1
Silva, C.M.2
Whatmore, A.J.3
Clayton, P.E.4
-
10
-
-
0028863809
-
Growth hormone receptor mutations in idiopathic short stature
-
Goddard AD, Covello R, Luoh SMet al. Growth hormone receptor mutations in idiopathic short stature. New Engl J Med. 333:1995;1093-1098.
-
(1995)
New Engl J Med
, vol.333
, pp. 1093-1098
-
-
Goddard, A.D.1
Covello, R.2
Luoh, S.M.3
-
11
-
-
0030659549
-
Partial growth hormone insensitivity: The role of growth hormone receptor mutations in idiopathic short stature
-
Goddard AM, Dowd P, Chernausek Set al. Partial growth hormone insensitivity: the role of growth hormone receptor mutations in idiopathic short stature. J Pediatr. 131:1997;S51-S55.
-
(1997)
J Pediatr
, vol.131
, pp. 51-S55
-
-
Goddard, A.M.1
Dowd, P.2
Chernausek, S.3
-
12
-
-
0346628520
-
Characterisation of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism
-
Godowski PJ, Leung DW, Meacham LRet al. Characterisation of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. Proc Natl Acad Sci USA. 86:1989;8083-8087.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 8083-8087
-
-
Godowski, P.J.1
Leung, D.W.2
Meacham, L.R.3
-
13
-
-
0344553452
-
Growth hormone receptor deficiency in Ecuador: Clinical and biochemical phenotype in two populations
-
Guevara-Aguirre J, Rosenbloom AL, Fielder PJ, Diamond FB Jr., Rosenfeld RG Growth hormone receptor deficiency in Ecuador: clinical and biochemical phenotype in two populations. J Clin Endocrinol Metab. 78:1993;11-16.
-
(1993)
J Clin Endocrinol Metab
, vol.78
, pp. 11-16
-
-
Guevara-Aguirre, J.1
Rosenbloom, A.L.2
Fielder, P.J.3
Diamond F.B., Jr.4
Rosenfeld, R.G.5
-
14
-
-
0031732473
-
Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain
-
Iida K, Takahashi Y, Kaji Het al. Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain. J Clin Endocrinol Metab. 83:1998;531-537.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 531-537
-
-
Iida, K.1
Takahashi, Y.2
Kaji, H.3
-
15
-
-
0027469409
-
Amino acid substitutions in the intracellular part of the growth hormone receptor in a patient with the Laron syndrome
-
Kou K, Lajara R, Rotwein P Amino acid substitutions in the intracellular part of the growth hormone receptor in a patient with the Laron syndrome. J Clin Endocrinol Metab. 76:1993;54-59.
-
(1993)
J Clin Endocrinol Metab
, vol.76
, pp. 54-59
-
-
Kou, K.1
Lajara, R.2
Rotwein, P.3
-
16
-
-
0028046063
-
Laron syndrome: Clinical features, molecular pathology and treatment
-
Laron Z, Klinger B Laron syndrome: clinical features, molecular pathology and treatment. Horm Res. 42:1994;198-202.
-
(1994)
Horm Res
, vol.42
, pp. 198-202
-
-
Laron, Z.1
Klinger, B.2
-
17
-
-
0027439736
-
Classification of growth hormone insensitivity syndrome
-
Laron Z, Blum W, Chatelain Pet al. Classification of growth hormone insensitivity syndrome. J Pediatr. 122:1992;241.
-
(1992)
J Pediatr
, vol.122
, pp. 241
-
-
Laron, Z.1
Blum, W.2
Chatelain, P.3
-
18
-
-
0027745204
-
Laron syndrome due to a post-receptor defect: Response to IGF-I treatment
-
Laron Z, Klinger B, Eshet Ret al. Laron syndrome due to a post-receptor defect: response to IGF-I treatment. Isr J Med Sci. 29:1993;757-763.
-
(1993)
Isr J Med Sci
, vol.29
, pp. 757-763
-
-
Laron, Z.1
Klinger, B.2
Eshet, R.3
-
20
-
-
0025222960
-
The little women of Loja: Growth hormone receptor deficiency in an inbred population of southern Ecuador
-
Rosenbloom AL, Guevara-Aguirre J, Rosenfeld RG, Fielder PJ The little women of Loja: growth hormone receptor deficiency in an inbred population of southern Ecuador. New Engl J Med. 323:1990;1367-1374.
-
(1990)
New Engl J Med
, vol.323
, pp. 1367-1374
-
-
Rosenbloom, A.L.1
Guevara-Aguirre, J.2
Rosenfeld, R.G.3
Fielder, P.J.4
-
22
-
-
0028260333
-
Growth hormone (GH) insensitivity due to primary GH receptor deficiency
-
Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev. 15:1994;369-390.
-
(1994)
Endocr Rev
, vol.15
, pp. 369-390
-
-
Rosenfeld, R.G.1
Rosenbloom, A.L.2
Guevara-Aguirre, J.3
-
23
-
-
0031044017
-
A short form of the human growth hormone receptor functions as a dominant negative inhibitor of the full-length receptor and generates large amounts of binding protein
-
Ross RJM, Esposito N, Shen XYet al. A short form of the human growth hormone receptor functions as a dominant negative inhibitor of the full-length receptor and generates large amounts of binding protein. Mol Endocrinol. 11:1997;265-273.
-
(1997)
Mol Endocrinol
, vol.11
, pp. 265-273
-
-
Ross, R.J.M.1
Esposito, N.2
Shen, X.Y.3
-
24
-
-
0027142429
-
Clinical features and endocrine status in patients with growth hormone insensitivity (Laron syndrome)
-
Savage MO, Blum WF, Ranke MBet al. Clinical features and endocrine status in patients with growth hormone insensitivity (Laron syndrome). J Clin Endocrinol Metab. 77:1993;1465-1471.
-
(1993)
J Clin Endocrinol Metab
, vol.77
, pp. 1465-1471
-
-
Savage, M.O.1
Blum, W.F.2
Ranke, M.B.3
-
25
-
-
0030918549
-
Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high GH binding protein: Extended phenotypic study in a very large pedigree
-
Silbergeld A, Dastot F, Klinger Bet al. Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high GH binding protein: extended phenotypic study in a very large pedigree. J Pediatr Endocrinol Metab. 10:1997;265-274.
-
(1997)
J Pediatr Endocrinol Metab
, vol.10
, pp. 265-274
-
-
Silbergeld, A.1
Dastot, F.2
Klinger, B.3
-
26
-
-
0009465049
-
Severe growth hormone (GH) insensitivity associated with homozygous missense mutations in intracellular coding regions of the GH receptor
-
Thanakitcharu K, Woods KA, Mullis PE, Savage MO, Clark AJL Severe growth hormone (GH) insensitivity associated with homozygous missense mutations in intracellular coding regions of the GH receptor. Horm Res. 48(Suppl. 2):1997;457.
-
(1997)
Horm Res
, vol.48
, Issue.SUPPL. 2
, pp. 457
-
-
Thanakitcharu, K.1
Woods, K.A.2
Mullis, P.E.3
Savage, M.O.4
Clark, A.J.L.5
-
27
-
-
0029805072
-
Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene
-
Woods KA, Camacho-Hübner C, Savage MO, Clark AJL Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. New Engl J Med. 335:1996;1363-1367.
-
(1996)
New Engl J Med
, vol.335
, pp. 1363-1367
-
-
Woods, K.A.1
Camacho-Hübner, C.2
Savage, M.O.3
Clark, A.J.L.4
-
28
-
-
0029879642
-
A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein
-
Woods KA, Fraser NC, Postel-Vinay MC, Savage MO, Clark AJL A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein. J Clin Endocrinol Metab. 81:1996;1686-1690.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 1686-1690
-
-
Woods, K.A.1
Fraser, N.C.2
Postel-Vinay, M.C.3
Savage, M.O.4
Clark, A.J.L.5
-
29
-
-
9844256098
-
Phenotype: Genotype relationships in growth hormone insensitivity syndrome
-
Woods KA, Dastot F, Preece MAet al. Phenotype: genotype relationships in growth hormone insensitivity syndrome. J Clin Endocrinol Metab. 82:1997;3529-3535.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 3529-3535
-
-
Woods, K.A.1
Dastot, F.2
Preece Ma3
-
30
-
-
0028804272
-
Review of Turkish patients with growth hormone insensitivity (Laron type)
-
Yordam N, Kandemir N, Erkul I, Kurdoglu S, Hatun S Review of Turkish patients with growth hormone insensitivity (Laron type). Eur J Endocrinol. 133:1995;539-542.
-
(1995)
Eur J Endocrinol
, vol.133
, pp. 539-542
-
-
Yordam, N.1
Kandemir, N.2
Erkul, I.3
Kurdoglu, S.4
Hatun, S.5
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