-
1
-
-
0035115801
-
The Somatomedin hypothesis: 2001
-
Le Roith D, Bondy C, Yakar S, Liu J-L, Butler A: The Somatomedin hypothesis: 2001. Endocr Rev 2001;22:53-74.
-
(2001)
Endocr Rev
, vol.22
, pp. 53-74
-
-
Le Roith, D.1
Bondy, C.2
Yakar, S.3
Liu, J.-L.4
Butler, A.5
-
2
-
-
0013890168
-
Genetic pituitary dwarfism with high serum concentration of growth hormone - a new inborn error of metabolism?
-
Laron Z, Pertzelan A, Mannheimer S: Genetic pituitary dwarfism with high serum concentration of growth hormone - a new inborn error of metabolism? Isr J Med Sci 1966:2;152-155.
-
(1966)
Isr J Med Sci
, vol.2
, pp. 152-155
-
-
Laron, Z.1
Pertzelan, A.2
Mannheimer, S.3
-
3
-
-
0346628520
-
Characterization 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 LR, Galgani JP, Hellmiss R, Keret R, Rotwein PS, Parks JS, Laron Z, Wood WI: Characterization 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 1989;86:8083-8087.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 8083-8087
-
-
Godowski, P.J.1
Leung, D.W.2
Meacham, L.R.3
Galgani, J.P.4
Hellmiss, R.5
Keret, R.6
Rotwein, P.S.7
Parks, J.S.8
Laron, Z.9
Wood, W.I.10
-
4
-
-
0024456661
-
Laron dwarfism and mutations of the growth hormone receptor gene
-
Amselem S, Duquesnoy P, Attree O, Novelli G, Bousnina S, Postel-Vinay MC, Goosens M: Laron dwarfism and mutations of the growth hormone receptor gene. N Engl J Med 1989;321:989-995.
-
(1989)
N Engl J Med
, vol.321
, pp. 989-995
-
-
Amselem, S.1
Duquesnoy, P.2
Attree, O.3
Novelli, G.4
Bousnina, S.5
Postel-Vinay, M.C.6
Goosens, M.7
-
5
-
-
33745918618
-
Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders
-
Savage MO, Attie KM, David A, Metherell LA, Clark AJ, Camacho-Hubner C: Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders. Nat Clin Pract Endocrinol Metab 2006;2:395-407.
-
(2006)
Nat Clin Pract Endocrinol Metab
, vol.2
, pp. 395-407
-
-
Savage, M.O.1
Attie, K.M.2
David, A.3
Metherell, L.A.4
Clark, A.J.5
Camacho-Hubner, C.6
-
6
-
-
0031133077
-
A dominant-negative mutation of the growth hormone receptor causes familial short stature
-
Ayling RM, Ross R, Towner P, Von Laue S, Finidori J, Moutoussamy S, Buchanan CR, Clayton PE, Norman MR: A dominant-negative mutation of the growth hormone receptor causes familial short stature. Nat Genet 1997;16:13-14.
-
(1997)
Nat Genet
, vol.16
, pp. 13-14
-
-
Ayling, R.M.1
Ross, R.2
Towner, P.3
Von Laue, S.4
Finidori, J.5
Moutoussamy, S.6
Buchanan, C.R.7
Clayton, P.E.8
Norman, M.R.9
-
7
-
-
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 H, Nose O, Okimura Y, Abe H, Chihara K: 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 1998;83:531-537.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 531-537
-
-
Iida, K.1
Takahashi, Y.2
Kaji, H.3
Nose, O.4
Okimura, Y.5
Abe, H.6
Chihara, K.7
-
8
-
-
9844256098
-
Phenotype:genotype relationships in growth hormone insensitivity syndrome
-
Woods KA, Dastot F, Preece MA, Clark AJ, Postel-Vinay MC, Chatelain PG, Ranke MB, Rosenfeld RG, Amselem S, Savage MO: Phenotype:genotype relationships in growth hormone insensitivity syndrome. J Clin Endocrinol Metab 1997;82:3529-3535.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 3529-3535
-
-
Woods, K.A.1
Dastot, F.2
Preece, M.A.3
Clark, A.J.4
Postel-Vinay, M.C.5
Chatelain, P.G.6
Ranke, M.B.7
Rosenfeld, R.G.8
Amselem, S.9
Savage, M.O.10
-
9
-
-
33947520006
-
Long-term treatment with recombinant IGF-I in children with severe IGF-I deficiency due to growth hormone insensitivity
-
Chernausek SD, Backeljauw PF, Frane J, Kuntze J, Underwood LE: Long-term treatment with recombinant IGF-I in children with severe IGF-I deficiency due to growth hormone insensitivity. J Clin Endocrinol Metab 2007;92:902-910.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 902-910
-
-
Chernausek, S.D.1
Backeljauw, P.F.2
Frane, J.3
Kuntze, J.4
Underwood, L.E.5
-
10
-
-
0029805072
-
Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene
-
Woods KA, Camacho-Hubner C, Savage MO, Clark AJ: Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med 2006;335:1363-1367.
-
(2006)
N Engl J Med
, vol.335
, pp. 1363-1367
-
-
Woods, K.A.1
Camacho-Hubner, C.2
Savage, M.O.3
Clark, A.J.4
-
11
-
-
21044454840
-
Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation
-
Walenkamp MJ, Karperien M, Pereira AM, Hilhorst-Hofstee Y, van Doorn J, Chen JW, Mohan S, Denley A, Forbes B, van Duyvenvoorde HA, van Thiel SW, Sluimers CA, Bax JJ, de Laat JA, Breuning MB, Romijn JA, Wit JM: Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. J Clin Endocrinol Metab 2005;90:2855-2864.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 2855-2864
-
-
Walenkamp, M.J.1
Karperien, M.2
Pereira, A.M.3
Hilhorst-Hofstee, Y.4
van Doorn, J.5
Chen, J.W.6
Mohan, S.7
Denley, A.8
Forbes, B.9
van Duyvenvoorde, H.A.10
van Thiel, S.W.11
Sluimers, C.A.12
Bax, J.J.13
de Laat, J.A.14
Breuning, M.B.15
Romijn, J.A.16
Wit, J.M.17
-
12
-
-
1642544606
-
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency
-
Bonapace G, Concolino D, Formicola S, Strisciuglio P: A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. J Med Genet 2003;40:913-917.
-
(2003)
J Med Genet
, vol.40
, pp. 913-917
-
-
Bonapace, G.1
Concolino, D.2
Formicola, S.3
Strisciuglio, P.4
-
13
-
-
33750144227
-
Partial IGF-I deficiency demonstrates the critical role of IGF-I in growth and brain development
-
Netchine I, Azzi S, Houang M, Seurin D, Daubas C, Ricort J-M, Legay C, Perin L, Heinrich R, Godeau F, Le Bouc Y: Partial IGF-I deficiency demonstrates the critical role of IGF-I in growth and brain development. Horm Res 2006;65:29.
-
(2006)
Horm Res
, vol.65
, pp. 29
-
-
Netchine, I.1
Azzi, S.2
Houang, M.3
Seurin, D.4
Daubas, C.5
Ricort, J.-M.6
Legay, C.7
Perin, L.8
Heinrich, R.9
Godeau, F.10
Le Bouc, Y.11
-
14
-
-
0141567775
-
Growth hormone insensitivity associated with a STAT5b mutation
-
Kofoed EM, Hwa V, Little B, Woods KA, Buckway CK, Tsubaki J, Pratt KL, Bezrodnik L, Jasper H, Tepper A, Heinrich JJ, Rosenfeld RG: Growth hormone insensitivity associated with a STAT5b mutation. N Engl J Med 2003;349:1139-1147.
-
(2003)
N Engl J Med
, vol.349
, pp. 1139-1147
-
-
Kofoed, E.M.1
Hwa, V.2
Little, B.3
Woods, K.A.4
Buckway, C.K.5
Tsubaki, J.6
Pratt, K.L.7
Bezrodnik, L.8
Jasper, H.9
Tepper, A.10
Heinrich, J.J.11
Rosenfeld, R.G.12
-
15
-
-
33747775187
-
Cutting edge: Decreased accumulation and regulatory function of CD4+ CD25(high) T cells in human STAT5b deficiency
-
Cohen AC, Nadeau KC, Tu W, Hwa V, Dionis K, Bezrodnik L, Teper A, Gaillard M, Heinrich J, Krensky AM, Rosenfeld RG, Lewis DB: Cutting edge: decreased accumulation and regulatory function of CD4+ CD25(high) T cells in human STAT5b deficiency. J Immunol 2006;177:2770-2774.
-
(2006)
J Immunol
, vol.177
, pp. 2770-2774
-
-
Cohen, A.C.1
Nadeau, K.C.2
Tu, W.3
Hwa, V.4
Dionis, K.5
Bezrodnik, L.6
Teper, A.7
Gaillard, M.8
Heinrich, J.9
Krensky, A.M.10
Rosenfeld, R.G.11
Lewis, D.B.12
-
16
-
-
23044470651
-
Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b
-
Hwa V, Little B, Adiyaman P, Kofoed EM, Pratt KL, Ocal G, Berberoglu M, Rosenfeld RG: Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b. J Clin Endocrinol Metab 2005;90:4260-4266.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 4260-4266
-
-
Hwa, V.1
Little, B.2
Adiyaman, P.3
Kofoed, E.M.4
Pratt, K.L.5
Ocal, G.6
Berberoglu, M.7
Rosenfeld, R.G.8
-
17
-
-
33748747698
-
Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation
-
Vidarsdottir S, Walenkamp MJ, Pereira AM, Karperien M, van Doorn J, van Duyvenvoorde HA, White S, Breuning MH, Roelfsema F, Kruithof MF, van Dissel J, Janssen R, Wit JM, Romijn JA: Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation. J Clin Endocrinol Metab 2006;91:3482-3485.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 3482-3485
-
-
Vidarsdottir, S.1
Walenkamp, M.J.2
Pereira, A.M.3
Karperien, M.4
van Doorn, J.5
van Duyvenvoorde, H.A.6
White, S.7
Breuning, M.H.8
Roelfsema, F.9
Kruithof, M.F.10
van Dissel, J.11
Janssen, R.12
Wit, J.M.13
Romijn, J.A.14
-
18
-
-
33750952330
-
Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation
-
Bernasconi A, Marino R, Ribas A, Rossi J, Ciaccio M, Oleastro M, Ornani A, Paz R, Rivarola MA, Zelazko M, Belgorosky A: Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation. Pediatrics 2006;118:1584-1592.
-
(2006)
Pediatrics
, vol.118
, pp. 1584-1592
-
-
Bernasconi, A.1
Marino, R.2
Ribas, A.3
Rossi, J.4
Ciaccio, M.5
Oleastro, M.6
Ornani, A.7
Paz, R.8
Rivarola, M.A.9
Zelazko, M.10
Belgorosky, A.11
-
19
-
-
0742287816
-
Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene
-
Domene HM, Bengolea SV, Martinez AS, Ropelato MG, Pennisi P, Scaglia P, Heinrich JJ, Jasper HG: Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. N Engl J Med 2004;350:570-577.
-
(2004)
N Engl J Med
, vol.350
, pp. 570-577
-
-
Domene, H.M.1
Bengolea, S.V.2
Martinez, A.S.3
Ropelato, M.G.4
Pennisi, P.5
Scaglia, P.6
Heinrich, J.J.7
Jasper, H.G.8
-
20
-
-
33646424087
-
Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure
-
Hwa V, Haeusler G, Pratt KL, Little BM, Frisch H, Koller D, Rosenfeld RG: Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure. J Clin Endocrinol Metab 2006;91:1826-1831.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 1826-1831
-
-
Hwa, V.1
Haeusler, G.2
Pratt, K.L.3
Little, B.M.4
Frisch, H.5
Koller, D.6
Rosenfeld, R.G.7
-
21
-
-
0036740049
-
Circulating levels of IGF-1 directly regulate bone growth and density
-
Yakar S, Rosen CJ, Beamer WG, Ackert-Bicknell CL, Wu Y, Liu JL, Ooi GT, Setser J, Frystyk J, Boisclair YR, Leroith D: Circulating levels of IGF-1 directly regulate bone growth and density. J Clin Invest 2002;110:771-781.
-
(2002)
J Clin Invest
, vol.110
, pp. 771-781
-
-
Yakar, S.1
Rosen, C.J.2
Beamer, W.G.3
Ackert-Bicknell, C.L.4
Wu, Y.5
Liu, J.L.6
Ooi, G.T.7
Setser, J.8
Frystyk, J.9
Boisclair, Y.R.10
Leroith, D.11
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