-
1
-
-
38349050260
-
Consensus guidelines for the diagnosis and treatment of adults with GH deficiency II: A statement of the GH Research Society in association with the European Society in association with the European Society for Pediatric Endocrinology, Lawson Wilkins Society, European Society of Endocrinology, Japan Endocrine Society, and Endocrine Society of Australia
-
GH Deficiency Consensus Workshop Participants
-
Ho KK, GH Deficiency Consensus Workshop Participants. Consensus guidelines for the diagnosis and treatment of adults with GH deficiency II: a statement of the GH Research Society in association with the European Society in association with the European Society for Pediatric Endocrinology, Lawson Wilkins Society, European Society of Endocrinology, Japan Endocrine Society, and Endocrine Society of Australia. Eur. J. Endocrinol. 157, 695-700 (2007).
-
(2007)
Eur. J. Endocrinol.
, vol.157
, pp. 695-700
-
-
Ho, K.K.1
-
2
-
-
0000040232
-
Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence. summary statement of the GH Research Society
-
Growth Hormone Research Society
-
Growth Hormone Research Society. Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence. summary statement of the GH Research Society. J. Clin. Endocrinol. Metab. 85, 3990-3993 (2000).
-
(2000)
J. Clin. Endocrinol. Metab.
, vol.85
, pp. 3990-3993
-
-
-
3
-
-
66749178939
-
Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment
-
Jorge AA, Arnhold IJ. Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment. Horm. Res. 71, 55-63 (2009).
-
(2009)
Horm. Res.
, vol.71
, pp. 55-63
-
-
Jorge, A.A.1
Arnhold, I.J.2
-
4
-
-
33644828425
-
Growth hormone (GH) pharmacogenetics: Influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency
-
DOI 10.1210/jc.2005-2005
-
Jorge AAL, Marchisotti FG, Montenegro LR, Caravalho LR, Mendonca BB, Arnhold IJP. Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency. J. Clin. Endocrinol. Metab. 91, 1076-1080 (2006). (Pubitemid 43357783)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.3
, pp. 1076-1080
-
-
Jorge, A.A.L.1
Marchisotti, F.G.2
Montenegro, L.R.3
Carvalho, L.R.4
Mendonca, B.B.5
Arnhold, I.J.P.6
-
5
-
-
40849100076
-
Influence of growth hormone (GH) receptor deletion of exon 3 and full-length isoforms on GH response and final height in patients with severe gh deficiency
-
DOI 10.1210/jc.2007-1382
-
Räz B, Janner M, Petkovic V et al. Influence of growth hormone receptor d3-and full-length isoforms on growth hormone response and final height in patients with severe growth hromone deficiency. J. Clin. Endocrinol. Metab. 93, 974-980 (2008). (Pubitemid 351398582)
-
(2008)
Journal of Clinical Endocrinology and Metabolism
, vol.93
, Issue.3
, pp. 974-980
-
-
Raz, B.1
Janner, M.2
Petkovic, V.3
Lochmatter, D.4
Eble, A.5
Dattani, M.T.6
Hindmarsh, P.C.7
Fluck, C.E.8
Mullis, P.E.9
-
6
-
-
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 MJE, Dekkers OM, Pereira AM et al. 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. Clin. Endocrinol. Metab. 94, 3721-3730 (2009).
-
(2009)
Clin. Endocrinol. Metab.
, vol.94
, pp. 3721-3730
-
-
Mje, W.1
Dekkers, O.M.2
Pereira, A.M.3
-
7
-
-
33749545489
-
The growth response to growth hormone (GH) treatment in children with isolated GH deficiency is independent of the presence of the exon 3-minus isoform of the GH receptor
-
DOI 10.1210/jc.2006-0063
-
Blum WF, Machinis K, Shavrikova EP et al. The growth response to Growth Hormone Treatment in children with isolated GH deficiency is independent of the presence of the exon 3 minus isoform of the GH receptor. J. Clin. Endocrinol. Metab. 91, 4171-4174 (2006). (Pubitemid 44536901)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.10
, pp. 4171-4174
-
-
Blum, W.F.1
Machinis, K.2
Shavrikova, E.P.3
Keller, A.4
Stobbe, H.5
Pfaeffle, R.W.6
Amselem, S.7
-
8
-
-
33644831885
-
Common polymorphisms of the growth hormone (GH) receptor do not correlate with the growth response to exogenous recombinant human GH in GH-deficient children
-
DOI 10.1210/jc.2005-1308
-
Pilotta A, Mella P, Filisetti M et al. Common polymorphisms of the growth hormone (GH) receptor do not correlate with the growth response to exogenous recombinant human GH in GH-deficient children. J. Clin. Endocrinol. Metab. 91, 1178-1180 (2006). (Pubitemid 43357798)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.3
, pp. 1178-1180
-
-
Pilotta, A.1
Mella, P.2
Filisetti, M.3
Felappi, B.4
Prandi, E.5
Parrinello, G.6
Notarangelo, L.D.7
Buzi, F.8
-
9
-
-
47549112698
-
Influence of the d3-growth hormone (GH) receptor isoform on short-term and long-term treatment response to GH replacement in GH-deficient adults
-
DOI 10.1210/jc.2007-2728
-
Van der Klaauw AA, van der Straaten T, Baak-Pablo R et al. Influence of the d3-growth hormone (GH) receptor isoform on short-term and long-term treatment response to GHreplacement in GH-deficient adults. J. Clin. Endocrinol. Metab. 93, 2828-2834 (2008). (Pubitemid 352008558)
-
(2008)
Journal of Clinical Endocrinology and Metabolism
, vol.93
, Issue.7
, pp. 2828-2834
-
-
Van Der Klaauw, A.A.1
Van Der Straaten, T.2
Baak-Pablo, R.3
Biermasz, N.R.4
Guchelaar, H.-J.5
Pereira, A.M.6
Smit, J.W.A.7
Romijn, J.A.8
-
10
-
-
70649091217
-
Association if the exon 3 deleted/full-length GHR polymorphism with recombinant growth hormone dose in growth hormone-deficient adults
-
Meyer S, Schaefer S, Stolk S et al. Association if the exon 3 deleted/full-length GHR polymorphism with recombinant growth hormone dose in growth hormone-deficient adults. Pharmacogenomics 10, 1199-1208 (2009).
-
(2009)
Pharmacogenomics
, vol.10
, pp. 1199-1208
-
-
Meyer, S.1
Schaefer, S.2
Stolk, S.3
-
11
-
-
10744225758
-
Serum insulin-like growth factor I reference values for an automated chemiluminescence immunoassay system: Results from a multicenter study
-
DOI 10.1159/000071871
-
Brabant G, von zur Mühlen A, Wüster C et al. Serum insulin-like growth factor I reference values for an automated chemiluminescence immunoassay system: results from a multicenter study. Horm. Res. 60, 53-60 (2003). (Pubitemid 36928670)
-
(2003)
Hormone Research
, vol.60
, Issue.2
, pp. 53-60
-
-
Brabant, G.1
Von Zur Muhlen, A.2
Wuster, C.3
Ranke, M.B.4
Kratzsch, J.5
Kiess, W.6
Ketelslegers, J.-M.7
Wilhelmsen, L.8
Hulthen, L.9
Saller, B.10
Mattsson, A.11
Wilde, J.12
Schemer, R.13
Kann, P.14
-
12
-
-
33646402056
-
Evaluation and treatment of adult growth hormone deficiency: An endocrine society clinical practice guideline
-
Molitch ME, Clemmons DR Malozowski S et al. Evaluation and treatment of adult growth hormone deficiency: an endocrine society clinical practice guideline. J. Clin. Endocrinol. Metab. 91, 1621-1634 (2006).
-
(2006)
J. Clin. Endocrinol. Metab.
, vol.91
, pp. 1621-1634
-
-
Molitch, M.E.1
Clemmons Malozowski, D.R.S.2
-
13
-
-
77952596053
-
D3-GHR genotype does not explain heterogeneity in GH responsiveness in hypopituitary adults
-
Moyes VJ, Walker DM, Owusu-Antwi S et al. d3-GHR genotype does not explain heterogeneity in GH responsiveness in hypopituitary adults. Clin. Endocrinol. 72, 807-813 (2010).
-
(2010)
Clin. Endocrinol.
, vol.72
, pp. 807-813
-
-
Moyes, V.J.1
Walker, D.M.2
Owusu-Antwi, S.3
-
14
-
-
70349757676
-
The d3/fl-GH receptor gene polymorphism does not influence quality of life and body composition in GH-deficient adults receiving GH replacement therapy
-
Adetunji OR, MacFarlane IA, Javadpour M, Alfirevic A, Pirmohamed M, Blair JC. The d3/fl-GH receptor gene polymorphism does not influence quality of life and body composition in GH-deficient adults receiving GH replacement therapy. Eur. J. Endocrinol. 161, 541-546 (2009).
-
(2009)
Eur. J. Endocrinol.
, vol.161
, pp. 541-546
-
-
Adetunji, O.R.1
MacFarlane, I.A.2
Javadpour, M.3
Alfirevic, A.4
Pirmohamed, M.5
Blair, J.C.6
-
15
-
-
59749098582
-
Influence of the exon 3-deleted/full-length growth hormone (GH) receptor polymorphism on the response to GH replacement therapy in adults with severe GH deficiency
-
Barbosa EJL, Palming J, Glad CAM et al. Influence of the exon 3-deleted/full-length growth hormone (GH) receptor polymorphism on the response to GH replacement therapy in adults with severe GH deficiency. J. Clin. Endocrinol. Metab. 94, 639-644 (2009).
-
(2009)
J. Clin. Endocrinol. Metab.
, vol.94
, pp. 639-644
-
-
Barbosa, E.J.L.1
Palming, J.2
Glad, C.A.M.3
-
16
-
-
33646248070
-
Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: The GENOMOS study
-
Ralston SH, Uitterlinden AG, Brandi ML et al. Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study. PLOS Med. 3, e90 (2006).
-
(2006)
PLOS Med.
, vol.3
-
-
Ralston, S.H.1
Uitterlinden, A.G.2
Brandi, M.L.3
-
17
-
-
70449527467
-
Enhancement of absolute fracture risk prognosis with genetic marker. The collagen i a 1 gene
-
Tran BN, Nguyen ND, Center JR, EismanJA, Nguyen TV. Enhancement of absolute fracture risk prognosis with genetic marker. the collagen I a 1 gene. Calcif. Tissue Int. 85, 379-288 (2009).
-
(2009)
Calcif. Tissue Int.
, vol.85
, pp. 379-288
-
-
Tran, B.N.1
Nguyen, N.D.2
Center, J.R.3
Eismanja Nguyen, T.V.4
-
18
-
-
79951672138
-
Polymorphisms in the 5́flank of COLIA1 gene and osteoporosis. meta-analysis of published studies
-
Jin H, Evangelou E, Ioannidis JP, Ralston SH. Polymorphisms in the 5́flank of COLIA1 gene and osteoporosis. meta-analysis of published studies. Osteoporosis Int. 22, 911-921 (2011).
-
(2011)
Osteoporosis Int.
, vol.22
, pp. 911-921
-
-
Jin, H.1
Evangelou, E.2
Ioannidis, J.P.3
Ralston, S.H.4
-
20
-
-
50149103215
-
Association of COLIA1 Sp1 polymorphism with the effect of subcutaneously injected recombinant hGH in GH-deficient adults
-
Meyer S, Haist M, Schaefer S et al. Association of COLIA1 Sp1 polymorphism with the effect of subcutaneously injected recombinant hGH in GH-deficient adults. Pharmacogenomics 9, 1017-1026 (2008).
-
(2008)
Pharmacogenomics
, vol.9
, pp. 1017-1026
-
-
Meyer, S.1
Haist, M.2
Schaefer, S.3
-
21
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleid Acids Res. 16, 1215 (1988).
-
(1988)
Nucleid Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
22
-
-
0034705518
-
Species specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution
-
Pantel J, Machinis K, Sobrier ML, Duquesnoy P, Goossens M, Amselem S. Species specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. J. Biol. Chem. 275, 18664-18669 (2000).
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 18664-18669
-
-
Pantel, J.1
MacHinis, K.2
Sobrier, M.L.3
Duquesnoy, P.4
Goossens, M.5
Amselem, S.6
-
23
-
-
0029836744
-
Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I α 1 gene
-
DOI 10.1038/ng1096-203
-
Grant SF, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I a 1 gene. Nat Genet. 14, 203-205 (1996). (Pubitemid 26338805)
-
(1996)
Nature Genetics
, vol.14
, Issue.2
, pp. 203-205
-
-
Grant, S.F.A.1
Reid, D.M.2
Blake, G.3
Herd, R.4
Fogelman, I.5
Ralston, S.H.6
-
24
-
-
0003408936
-
-
(3rd Edition). John Hopkins University Press, Baltimore, MD, USA
-
Ott J. Analysis of Human Genetic Linkage (3rd Edition). John Hopkins University Press, Baltimore, MD, USA, 196-200 (1999).
-
(1999)
Analysis of Human Genetic Linkage
, pp. 196-200
-
-
Ott, J.1
-
25
-
-
0028863809
-
Mutations of the growth hormone receptor in children with idiopathic short stature
-
Goddard AD, Covello R, Luoh H SM et al. Mutations of the growth hormone receptor in children with idiopathic short stature. N. Engl. J. Med. 333, 1093-1098 (1995).
-
(1995)
N. Engl. J. Med.
, vol.333
, pp. 1093-1098
-
-
Goddard, A.D.1
Covello, R.2
Luoh, H.S.M.3
-
26
-
-
0344874656
-
IGF-I Receptor Mutations Resulting in Intrauterine and Postnatal Growth Retardation
-
DOI 10.1056/NEJMoa010107
-
Abuzzahab MJ, Schneider A, Goddard A et al. IGF-1 receptor mutations resulting in intrauterine and postnatal growth retardation. N. Engl. J. Med. 349, 2211-2222 (2003). (Pubitemid 37485137)
-
(2003)
New England Journal of Medicine
, vol.349
, Issue.23
, pp. 2211-2222
-
-
Abuzzahab, M.J.1
Schneider, A.2
Goddard, A.3
Grigorescu, F.4
Lautier, C.5
Keller, E.6
Kiess, W.7
Klammt, J.8
Kratzsch, J.9
Osgood, D.10
Pfaffle, R.11
Raile, K.12
Seidel, B.13
Smith, R.J.14
Chernausek, S.D.15
-
27
-
-
34547146354
-
Short stature and decreased insulin-like growth factor I (IGF-I)/growth hormone (GH)-ratio in an adult GH-deficient patient pointing to additional partial GH insensitivity due to a R179C mutation of the growth hormone receptor
-
DOI 10.1016/j.ghir.2007.03.001, PII S1096637407000391
-
Meyer S, Ipek M, Keth A et al. Short stature and decreased insulin-like growth factor I (IGF-I)/growth hormone (GH)-ratio in an adult GH-deficient patient pointing to additional partial GH insensitivity due to a R179C mutation of the growth hormone receptor. Growth Horm. IGF Res. 17, 307-314 (2007). (Pubitemid 47109213)
-
(2007)
Growth Hormone and IGF Research
, vol.17
, Issue.4
, pp. 307-314
-
-
Meyer, S.1
Ipek, M.2
Keth, A.3
Minnemann, T.4
Von Mach, M.A.5
Weise, A.6
Ittner, J.R.7
Nawroth, P.P.8
Plockinger, U.9
Stalla, G.K.10
Tuschy, U.11
Weber, M.M.12
Kann, P.H.13
-
28
-
-
3042780191
-
A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone
-
DOI 10.1038/ng1379
-
Dos Santos C, Essioux L, Teinturier C, Tauber M, Goffin V, Bougneres P. A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone. Nat. Genet. 36, 720-724 (2004). (Pubitemid 38886633)
-
(2004)
Nature Genetics
, vol.36
, Issue.7
, pp. 720-724
-
-
Dos Santos, C.1
Essioux, L.2
Teinturier, C.3
Tauber, M.4
Goffin, V.5
Bougneres, P.6
-
29
-
-
0027475477
-
Expression and binding properties of two isoforms of the human growth hormone receptor
-
DOI 10.1016/0014-5793(93)80028-S
-
Sobrier ML, Duquesnoy P, Duriez B, Amselem S, Goossens M. Expression and binding properties of two isoforms of the human growth hormone receptor. FEBS Lett. 319, 16-20 (1993). (Pubitemid 23074261)
-
(1993)
FEBS Letters
, vol.319
, Issue.1-2
, pp. 16-20
-
-
Sobrier, M.-L.1
Duquesnoy, P.2
Duriez, B.3
Amselem, S.4
Goossens, M.5
-
30
-
-
0029959817
-
Alternative splicing of exon 3 of the human growth hormone receptor is the result of an unusual genetic polymorphism
-
DOI 10.1073/pnas.93.22.12394
-
Stallings-Mann ML, Ludwiaczak RL, KlingerKW, Rottman F. Alternative splicing of exon 3 of the human growth hormone receptor is the result of an unusal genetic polymorphism. Proc. Natl Acad. Sci. USA 93, 12394-12399 (1996). (Pubitemid 26367154)
-
(1996)
Proceedings of the National Academy of Sciences of the United States of America
, vol.93
, Issue.22
, pp. 12394-12399
-
-
Stallings-Mann, M.L.1
Ludwiczak, R.L.2
Klinger, K.W.3
Rottman, F.4
-
31
-
-
0035060434
-
A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality
-
Mann V, Hobson EE, Li B et al. A COLIA1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J. Clin. Invest. 107, 899-907 (2001). (Pubitemid 32274043)
-
(2001)
Journal of Clinical Investigation
, vol.107
, Issue.7
, pp. 899-907
-
-
Mann, V.1
Hobson, E.E.2
Li, B.3
Stewart, T.L.4
Grant, S.F.A.5
Robins, S.P.6
Aspden, R.M.7
Ralston, S.H.8
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