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1
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0028260333
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Growth hormone (GH) insensitivity due to primary GH receptor deficiency
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1 Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J: Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev 1994, 15:369-390.
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Endocr Rev
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Rosenfeld, R.G.1
Rosenbloom, A.L.2
Guevara-Aguirre, J.3
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2
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0026598960
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Human growth hormone and extracellular domain of its receptor: Crystal structure of the complex
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2 De Vos AM, Ultsch M, Kossiakoff AA: Human growth hormone and extracellular domain of its receptor: crystal structure of the complex. Science 1992, 255:306-312.
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Science
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De Vos, A.M.1
Ultsch, M.2
Kossiakoff, A.A.3
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3
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0023635603
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Growth hormone receptor and serum binding protein: Purification, cloning and expression
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3 Leung DW, Spencer SA, Cachianes G, et al.: Growth hormone receptor and serum binding protein: Purification, cloning and expression. Nature 1987, 330:537-543.
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Nature
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Leung, D.W.1
Spencer, S.A.2
Cachianes, G.3
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4
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0033015191
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Relationship between phenotype and genotype in growth hormone insensitivity syndrome
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4 Woods KA, Clark AJ, Amselem S, et al.: Relationship between phenotype and genotype in growth hormone insensitivity syndrome. Acta Paediatr Suppl 1999, 88:158-162. This review of patients with GH insensitivity is valuable for demonstrating the molecular, clinical, and biochemical variability and the limits to which the genotype predicts phenotype. The conclusion that the phenotype of Laron syndrome probably involves the contribution of genes other than that for the GH receptor is intriguing.
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(1999)
Acta Paediatr Suppl
, vol.88
, pp. 158-162
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Woods, K.A.1
Clark, A.J.2
Amselem, S.3
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5
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0029879642
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A homozygous splice site mutation affecting the intracellular domain of the growth hormone receptor resulting in Laron syndrome with elevated growth hormone binding protein
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5 Woods KA, Fraser NC, Postel-Vinay M-C, et al.: A homozygous splice site mutation affecting the intracellular domain of the growth hormone receptor resulting in Laron syndrome with elevated growth hormone binding protein. J Clin Endocrinol Metab 1996, 81:1686-1690.
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J Clin Endocrinol Metab
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Woods, K.A.1
Fraser, N.C.2
Postel-Vinay, M.-C.3
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6
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0030918549
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Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: Extended phenotypic study in a very large pedigree
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6 Silbergeld A, Dastot F, Klinger B, et al.: Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: extended phenotypic study in a very large pedigree. J Pediatr Endocrinol Metab 1997, 10:265-274.
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(1997)
J Pediatr Endocrinol Metab
, vol.10
, pp. 265-274
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Silbergeld, A.1
Dastot, F.2
Klinger, B.3
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7
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0031133077
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A dominant-negative mutation of the growth hormone receptor causes familial short stature
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7 Ayling RM, Ross R, Towner P, et al.: A dominant-negative mutation of the growth hormone receptor causes familial short stature. Nat Genet 1997, 16:13-14.
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Nat Genet
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Ayling, R.M.1
Ross, R.2
Towner, P.3
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8
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0031732473
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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
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8 Iida K, Takahashi Y, Kaji H, et 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 1998, 83:531-537.
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J Clin Endocrinol Metab
, vol.83
, pp. 531-537
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Iida, K.1
Takahashi, Y.2
Kaji, H.3
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9
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0030659549
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Partial growth-hormone insensitivity: The role of growth-hormone receptor mutations in idiopathic short stature
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9 Goddard AD, Dowd P, Chernausek S, et al.: Partial growth-hormone insensitivity: the role of growth-hormone receptor mutations in idiopathic short stature. J Pediatr 1997, 131 (suppl):51-55.
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J Pediatr
, vol.131
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, pp. 51-55
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Goddard, A.D.1
Dowd, P.2
Chernausek, S.3
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10
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0033306857
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The C422F mutation of the growth hormone receptor gene is not responsible for short stature
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10 Iida K, Takahashi Y, Kaji H, et al.: The C422F mutation of the growth hormone receptor gene is not responsible for short stature. J Clin Endocrinol Metab 1999, 84:4214-4219.
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(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4214-4219
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Iida, K.1
Takahashi, Y.2
Kaji, H.3
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11
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0033021707
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Defects of the growth hormone receptor and their clinical implications
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11 Savage MO, Woods KA, Johnston LB, et al.: Defects of the growth hormone receptor and their clinical implications. Growth Horm IGF Res 1999, 9(SupplA):57-61.
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(1999)
Growth Horm IGF Res
, vol.9
, Issue.SUPPL A
, pp. 57-61
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Savage, M.O.1
Woods, K.A.2
Johnston, L.B.3
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12
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0033017783
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Signal transduction defects in growth hormone insensitivity
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12 Clayton PE, Freeth JS, Whatmore AJ, et al.: Signal transduction defects in growth hormone insensitivity. Acta Paediatr Suppl 1999, 88:174-178.
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(1999)
Acta Paediatr Suppl
, vol.88
, pp. 174-178
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Clayton, P.E.1
Freeth, J.S.2
Whatmore, A.J.3
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13
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0030695808
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National Cooperative Growth Study: Substudy VI: The clinical utility of growth-hormone-binding protein, insulin-like growth factor I, and insulin-like growth factor-binding protein 3 measurements
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13 Attie KM, Julius JR, Stoppani C, et al.: National Cooperative Growth Study: substudy VI: the clinical utility of growth-hormone-binding protein, insulin-like growth factor I, and insulin-like growth factor-binding protein 3 measurements. J Pediatr 1997, 131(suppl):56-60.
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(1997)
J Pediatr
, vol.131
, Issue.SUPPL.
, pp. 56-60
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Attie, K.M.1
Julius, J.R.2
Stoppani, C.3
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14
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0028179431
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Reduced concentration of serum growth hormone-binding protein in children with idiopathic short stature
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14 Carlsson LMS, Attie KM, Compton PG, et al.: Reduced concentration of serum growth hormone-binding protein in children with idiopathic short stature. J Clin Endocrinol Metab 1994, 78:1325-1330.
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(1994)
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Carlsson, L.M.S.1
Attie, K.M.2
Compton, P.G.3
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15
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0029090131
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Evidence for partial growth hormone insensitivity among patients with idiopathic short stature
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15 Attie KM, Carlsson LMS, Rundle AC, et al.: Evidence for partial growth hormone insensitivity among patients with idiopathic short stature. J Pediatr 1995, 127:244-250.
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(1995)
J Pediatr
, vol.127
, pp. 244-250
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Attie, K.M.1
Carlsson, L.M.S.2
Rundle, A.C.3
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16
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0028863809
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Mutations of the growth hormone receptor in children with idiopathic short stature
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16 Goddard AD, Covello R, Luoh SM, et al.: Mutations of the growth hormone receptor in children with idiopathic short stature. N Engl J Med 1995, 333:1093-1098.
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(1995)
N Engl J Med
, vol.333
, pp. 1093-1098
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Goddard, A.D.1
Covello, R.2
Luoh, S.M.3
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17
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0033580234
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Effect of growth hormone treatment on adult height of children with idiopathic short stature
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17 Hintz RL, Attie KM, Baptista J, et al., for the Genentech Collaborative Group: Effect of growth hormone treatment on adult height of children with idiopathic short stature. N Engl J Med 1999, 340:502-507. This article adds the perspective of the effects of long term GH treatment in patients with idiopathic short stature. It is useful to consider these data in the context of the genetic analysis done in the same patients [9].
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(1999)
N Engl J Med
, vol.340
, pp. 502-507
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Hintz, R.L.1
Attie, K.M.2
Baptista, J.3
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18
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0031734064
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Growth hormone receptor mutations in children with idiopathic short stature
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18 Sanchez JE, Perera E, Baumbach L, et al.: Growth hormone receptor mutations in children with idiopathic short stature. J Clin Endocrinol Metab 1998, 83:4079-4083.
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(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 4079-4083
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Sanchez, J.E.1
Perera, E.2
Baumbach, L.3
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19
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0032919684
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Congenital growth hormone insensitivity syndromes and their relevance to idiopathic short stature
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19 Clayton PE, Freeth JS, Norman MR: Congenital growth hormone insensitivity syndromes and their relevance to idiopathic short stature. Clin Endocrinol 1999, 50:275-283. This review article is a thoughtful summary of the spectrum of GH the insensitivity. It describes how the location of the mutations affect GHBP levels and discusses both obligate heterozygotes in the families of patients with Laron syndrome and issues of familial short stature and partial GH insensitivity.
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(1999)
Clin Endocrinol
, vol.50
, pp. 275-283
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Clayton, P.E.1
Freeth, J.S.2
Norman, M.R.3
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20
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0030877094
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PHOG, a candidate gene for involvement in the short stature of Turner syndrome
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20 Ellison JW, Wardak Z, Young MF, et al.: PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet 1997, 6:1341-1347.
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(1997)
Hum Mol Genet
, vol.6
, pp. 1341-1347
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Ellison, J.W.1
Wardak, Z.2
Young, M.F.3
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21
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0030940217
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Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner
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21 Rao E, Weiss B, Fukami M, et al.: Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner. Nat Genet 1997, 16:54-63.
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(1997)
Nat Genet
, vol.16
, pp. 54-63
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Rao, E.1
Weiss, B.2
Fukami, M.3
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22
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17344363774
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SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
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22 Belin V, Cusin V, Viot G, et al.: SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet 1998, 19:67-69.
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(1998)
Nat Genet
, vol.19
, pp. 67-69
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Belin, V.1
Cusin, V.2
Viot, G.3
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23
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0031747158
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Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
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23 Shears DJ, Vassal HJ, Goodman FR, el al.: Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet 1998, 19:70-73.
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(1998)
Nat Genet
, vol.19
, pp. 70-73
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Shears, D.J.1
Vassal, H.J.2
Goodman, F.R.3
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24
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0033431823
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SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome
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24 Cormier-Daire V, Belin V, Cusin V, et al.: SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome. Acta Paediatr Suppl 1999, 88:55-59.
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(1999)
Acta Paediatr Suppl
, vol.88
, pp. 55-59
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Cormier-Daire, V.1
Belin, V.2
Cusin, V.3
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25
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0033305653
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Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: Implications for the development of Turner syndrome
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25 Kosho T, Muroya K, Nagai T, et al.: Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. J Clin Endocrinol Metab 1999, 84:4613-4621. This study presents a thorough analysis of 14 Japanese patients with chromosomal defects affecting the SHOX gene. In addition to detailed deletion maps of the pseudoautosomal region for each patient, phenotype is described with special attention to skeletal features and growth, indicating which features may be attributed to the SHOX gene.
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(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4613-4621
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Kosho, T.1
Muroya, K.2
Nagai, T.3
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26
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0032707125
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Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14)
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26 de Vries BB, Eussen BH, van Diggelen OP, et al.: Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14). Am J Med Genet 1999, 87:189-194.
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(1999)
Am J Med Genet
, vol.87
, pp. 189-194
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De Vries, B.B.1
Eussen, B.H.2
Van Diggelen, O.P.3
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27
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0032888428
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SHOX: Pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis
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27 Ogata T: SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis. Growth Horm IGF Res 1999, 9(Suppl B):53-57.
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(1999)
Growth Horm IGF Res
, vol.9
, Issue.SUPPL. B
, pp. 53-57
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Ogata, T.1
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28
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0034455487
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Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone
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28 Binder G, Schwarze CP, Ranke MB: Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone. J Clin Endocrinol Metab 2000, 85:245-249. This study illustrates the proper approach to analyzing the prevalence of a mutation in a given population. Similar to earlier studies of the GH receptor, this study of the SHOX gene in a group of ISS patients included molecular screening with PCR amplification and single strand conformation analysis, as well as paternity analysis when appropriate. In addition, the GH treatment of two siblings with a SHOX defect is discussed.
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(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 245-249
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Binder, G.1
Schwarze, C.P.2
Ranke, M.B.3
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29
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0032923014
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Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature
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29 Shanske A, Ellison J, Vuguin P, et al.: Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature. Am J Med Genet 1999, 82:34-39.
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(1999)
Am J Med Genet
, vol.82
, pp. 34-39
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Shanske, A.1
Ellison, J.2
Vuguin, P.3
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31
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0030471575
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Short stature caused by a mutant growth hormone with an antagonistic effect
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31 Takahashi Y, Kaji H, Okimura Y, et al.: Short stature caused by a mutant growth hormone with an antagonistic effect. Endocrinol J 1996, 43(suppl):27-32.
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(1996)
Endocrinol J
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Takahashi, Y.1
Kaji, H.2
Okimura, Y.3
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32
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0032886235
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Mutations in the growth hormone releasing hormone receptor: A new form of dwarfism in humans
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32 Baumann G: Mutations in the growth hormone releasing hormone receptor: a new form of dwarfism in humans. Growth Horm IGF Res 1999, 9(Suppl B):24-29.
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(1999)
Growth Horm IGF Res
, vol.9
, Issue.SUPPL. B
, pp. 24-29
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Baumann, G.1
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33
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0029805072
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Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene
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33 Woods KA, Camacho-Hubner C, Savage MO, et al.: 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.
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N Engl J Med
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, pp. 1363-1367
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Woods, K.A.1
Camacho-Hubner, C.2
Savage, M.O.3
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34
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0033323796
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Effects of recombinant human insulin-like growth factor I (IGF-I) therapy on the growth hormone-IGF system of a patient with a partial IGF-I gene deletion
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34 Camacho-Hubner C, Woods KA, Miraki-Moud F, et al.: Effects of recombinant human insulin-like growth factor I (IGF-I) therapy on the growth hormone-IGF system of a patient with a partial IGF-I gene deletion. J Clin Endocrinol Metab 1999, 84:1611-1616. Although only one patient with partial IGF-I gene deletion has been described, much can be learned from this patient. This article details the hormonal profile of the patient before and after recombinant IGF-I therapy, showing interesting effects on GH, IGF binding proteins, insulin, and growth.
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(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 1611-1616
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Camacho-Hubner, C.1
Woods, K.A.2
Miraki-Moud, F.3
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