-
1
-
-
33750172251
-
Genetic disorders in the growth hormone - Insulin-like growth factor-I axis
-
DOI 10.1159/000095161
-
Walenkamp MJ, Wit JM: Genetic disorders in the growth hormone - insulin-like growth factor-I axis. Horm Res 2006; 66: 221-230. (Pubitemid 44597720)
-
(2006)
Hormone Research
, vol.66
, Issue.5
, pp. 221-230
-
-
Walenkamp, M.J.E.1
Wit, J.M.2
Kant, S.G.3
Pereira, A.M.4
Karperien, M.5
Oostdijk, W.6
Van Duyvenvoorde, H.A.7
Losekoot, M.8
Breuning, M.H.9
Romijn, J.A.10
-
2
-
-
34248379653
-
Genotypes and phenotypes in children with short stature: Clinical indicators of SHOX haploinsufficiency
-
DOI 10.1136/jmg.2006.046581
-
Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B: Genotypes and phenotypes in children with short stature: Clinical indicators of SHOX haploinsufficiency. J Med Genet 2007; 44: 306-313. (Pubitemid 46732624)
-
(2007)
Journal of Medical Genetics
, vol.44
, Issue.5
, pp. 306-313
-
-
Rappold, G.1
Blum, W.F.2
Shavrikova, E.P.3
Crowe, B.J.4
Roeth, R.5
Quigley, C.A.6
Ross, J.L.7
Niesler, B.8
-
3
-
-
34547764390
-
Brief report: 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: Clinical scoring system and epigenetic-phenotypic correlations
-
DOI 10.1210/jc.2007-0354
-
Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Demay MC, Danton F, Petriczko E, Bertrand AM, Heinrichs C, Carel JC, Loeuille GA, Pinto G, Jacquemont ML, Gicquel C, Cabrol S, Le Bouc Y: 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: Clinical scoring system and epigenetic- phenotypic correlations. J Clin Endocrinol Metab 2007; 92: 3148-3154. (Pubitemid 47236384)
-
(2007)
Journal of Clinical Endocrinology and Metabolism
, vol.92
, Issue.8
, pp. 3148-3154
-
-
Netchine, I.1
Rossignol, S.2
Dufourg, M.-N.3
Azzi, S.4
Rousseau, A.5
Perin, L.6
Houang, M.7
Steunou, V.8
Esteva, B.9
Thibaud, N.10
Demay, M.-C.R.11
Danton, F.12
Petriczko, E.13
Bertrand, A.-M.14
Heinrichs, C.15
Carel, J.-C.16
Loeuille, G.-A.17
Pinto, G.18
Jacquemont, M.-L.19
Gicquel, C.20
Cabrol, S.21
Le Bouc, Y.22
more..
-
4
-
-
66049151670
-
Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation
-
Eggermann T, Gonzalez D, Spengler S, Arslan-Kirchner M, Binder G, Schönherr N: Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. Pediatrics 2009; 123:e929-e931.
-
(2009)
Pediatrics
, vol.123
-
-
Eggermann, T.1
Gonzalez, D.2
Spengler, S.3
Arslan-Kirchner, M.4
Binder, G.5
Schönherr, N.6
-
5
-
-
0029805072
-
Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene
-
DOI 10.1056/NEJM199610313351805
-
Woods KA, Camacho-Hübner 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 1996; 335: 1363-1367. (Pubitemid 26360455)
-
(1996)
New England Journal of Medicine
, vol.335
, Issue.18
, pp. 1363-1367
-
-
Woods, K.A.1
Camacho-Hubner, C.2
Savage, M.O.3
Clark, A.J.L.4
-
6
-
-
0034469899
-
Significance of basal IGF-I, IGFBP-3 and IGFBP-2 measurements in the diagnostics of short stature in children
-
DOI 10.1159/000053233
-
Ranke MB, Schweizer R, Elmlinger MW, Weber K, Binder G, Schwarze CP, Wollmann HA: Significance of basal IGF-I, IGFBP-3 and IGFBP-2 measurements in the diagnostics of short stature in children. Horm Res 2000; 54: 60-68. (Pubitemid 32225734)
-
(2000)
Hormone Research
, vol.54
, Issue.2
, pp. 60-68
-
-
Ranke, M.B.1
Schweizer, R.2
Elmlinger, M.W.3
Weber, K.4
Binder, G.5
Schwarze, C.P.6
Wollmann, H.A.7
-
7
-
-
33751542982
-
Controversy in clinical endocrinology: Problems with reclassification of insulin-like growth factor I production and action disorders
-
DOI 10.1210/jc.2006-1641
-
Cohen P: Controversy in clinical endocrinology: Problems with reclassification of insulin-like growth factor I production and action disorders. J Clin Endocrinol Metab 2006; 91: 4235-4236. (Pubitemid 44833390)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.11
, pp. 4235-4236
-
-
Cohen, P.1
-
8
-
-
0028411031
-
Improvement of diagnostic criteria in growth hormone insensitivity syndrome: Solutions and pitfalls Pharmacia Study Group on Insulin-like Growth Factor I Treatment in Growth Hormone Insensitivity Syndromes
-
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. Pharmacia Study Group on Insulin-like Growth Factor I Treatment in Growth Hormone Insensitivity Syndromes. Acta Paediatr Suppl 1994; 399: 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
-
9
-
-
10744223390
-
Standard and low-dose IGF-I generation tests and spontaneous growth hormone secretion in children with idiopathic short stature
-
DOI 10.1046/j.1365-2265.2004.01957.x
-
Blair JC, Camacho-Hübner C, Miraki Moud F, Rosberg S, Burren C, Lim S, Clayton PE, Bjarnason R, Albertsson-Wikland K, Savage MO: Standard and low-dose IGF-I generation tests and spontaneous growth hormone secretion in children with idiopathic short stature. Clin Endocrinol (Oxf) 2004; 60: 163-168. (Pubitemid 38200896)
-
(2004)
Clinical Endocrinology
, vol.60
, Issue.2
, pp. 163-168
-
-
Blair, J.C.1
Camacho-Hubner, C.2
Miraki Moud, F.3
Rosberg, S.4
Burren, C.5
Lim, S.6
Clayton, P.E.7
Bjarnason, R.8
Albertsson-Wikland, K.9
Savage, M.O.10
-
10
-
-
34548789007
-
Idiopathic short stature: Will genetics influence the choice between GH and IGF-I therapy?
-
DOI 10.1530/EJE-07-0292
-
Savage MO, Camacho-Hübner C, David A, Metherell LA, Hwa V, Rosenfeld RG, Clark AJ: Idiopathic short stature: Will genetics influence the choice between GH and IGF-I therapy? Eur J Endocrinol 2007; 157(suppl 1):S33-S37. (Pubitemid 47434128)
-
(2007)
European Journal of Endocrinology
, vol.157
, Issue.SUPPL. 1
-
-
Savage, M.O.1
Camacho-Hubner, C.2
David, A.3
Metherell, L.A.4
Hwa, V.5
Rosenfeld, R.G.6
Clark, A.J.L.7
-
11
-
-
70349904753
-
Impact of the exon 3-deleted growth hormone (GH) receptor polymorphism on baseline height and the growth response to recombinant human GH therapy in GH-deficient (GHD) and non- GHD children with short stature: A systematic review and meta-analysis
-
Wassenaar MJ, Dekkers OM, Pereira AM, Wit JM, Smit JW, Biermasz NR, Romijn JA: Impact of the exon 3-deleted growth hormone (GH) receptor polymorphism on baseline height and the growth response to recombinant human GH therapy in GH-deficient (GHD) and non- GHD children with short stature: A systematic review and meta-analysis. J Clin Endocrinol Metab 2009; 94: 3721-3730.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 3721-3730
-
-
Wassenaar, M.J.1
Dekkers, O.M.2
Pereira, A.M.3
Wit, J.M.4
Smit, J.W.5
Biermasz, N.R.6
Romijn, J.A.7
|