| 1 |
Randhawa R, Cohen P. The role of the insulin-like growth factor system in prenatal growth[J]. Mol Genet Metab, 2005, 86(1-2):84-90.
|
| 2 |
Ester WA, Hokken-Koelega AC. Polymorphisms in the IGFI and IGFIR genes and childen born small for gestational age: results of large population studies[J].Best Pract Res Clin Endocrinol Metab, 2008, 22(3):415-431.
|
| 3 |
Street ME, Grossi E, Volta C, et al. Placental determinants of fetal growth: identification of key factors in the insulin-like growth factor and cytokine systems using artificial neural networks[J], BMC Pediatr, 2008, 8:24-28.
|
| 4 |
Klammt J, Pfäffle R, Werner H, et al. IGF signaling defects as causes of growth failure and IUGR[J].Trends Endocrinol Metab, 2008, 19(6):197-205.
|
| 5 |
Cetin I, Foidart JM, Miozzo M, et al. Fetal growth restriction: a workshop report[J]. Placenta, 2004, 25(8-9):753-757.
|
| 6 |
Randhawa RS.The insulin-like growth factor system and fetal growth restriction[J]. Pediatr Endocrinol Rev, 2008, 6(2):235-240.
|
| 7 |
James AL, Handley-erry MH, Burke SO, et al. Association of intrauterine fetal growth retardation and learning deficits at age 9 to 11 years[J]. Am J Obstet Gynecol, 1992; 167(6):1499-1505.
|
| 8 |
Shoba L, An MR, Frank SJ, et al.Developmental regulation of insulin-like growth factor-I and growth hormone receptor gene expression[J]. Mol Cell Endocrinol, 1999, 152(1-2):125-136.
|
| 9 |
Klammt J, Kiess W, Pfäffle R.IGF1R mutations as cause of SGA[J]. Best Prac Res Clin Endocrinol Metab, 2011, 25(1):191-206.
|
| 10 |
Ullrich A, Gray A, Tam AW, et al. Insulin-like growth factor Ⅰ receptor primary structure:comparison with insulin receptor suggests structural determinants that define functional specificity[J].EMBO J, 1986, 5(10):2503-2512.
|
| 11 |
Adams TE, Epa VC, Garrett TP, et al. Structure and function of the type 1 insulin-like growth factor receptor[J].Cell Mol Life Sci, 2000, 57(7):1050-1093.
|
| 12 |
Abuzzahab MJ, Schneider A, Goddard A, et al. IGF-Ⅰ receptor mutations resulting in intrauterine and postnatal growth retardation[J].N Engl J Med, 2003, 349(23):2211-2222.
|
| 13 |
Kiess W, Kratzsch J, Keller E, et al. Clinical examples of disturbed IGF signaling: intrauterine and postnatal growth retardation due to mutations of theinsulin-like growth factor I receptor (IGF-ⅠR) gene[J]. Rev Endocr Metab Disord, 2005, 6(3):183-187.
|
| 14 |
Kawashima Y, Kanzaki S, Yang F, et al.Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation[J]. J Clin Endocrinol Metab, 2005, 90(8):4679-4687.
|
| 15 |
Walenkamp MJ, Van der Kamp HJ, Pereira AM, et al. A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor Ⅰ receptor[J].J Clin Endocrinol Metab, 2006, 91(8):3062-3070.
|
| 16 |
Inagaki K, Tiulpakov A, Rubtsov P, et al. A familial IGF-1 receptor mutant leads to short stature: clinical and biochemical characterization[J]. J Clin Endocrinol Metab, 2007, 92(4):1542-1548.
|
| 17 |
Fang P, Schwartz ID, Johnson BD, et al. Familial short stature caused by haploinsufficiency of the insulin-like growth factor Ⅰ receptor due to nonsense-mediated messenger ribonucleic acid decay[J].J Clin Endocrinol Metab, 2009, 94(5):1740-1747.
|
| 18 |
Wietske A, Hermine A, van Duyvenvoorde, et al. Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiencyillustrate the heterogeneity of its phenotype[J].J Clin Endocrinol Metab, 2009, 94(12):4717-4727.
|
| 19 |
Kruis T, Klammt J, Galli-Tsinopoulou A, et al. Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor Ⅰ receptor causesintrauterine and postnatal growth retardation[J]. J Clin Endocrinol Metab, 2010, 95(3):1137-1142.
|
| 20 |
Wallborn T, Wüller S, Klammt J, et al.A heterozygous mutation of the insulin-like growth factor-Ⅰ receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation[J].J Clin Endocrinol Metab, 2010, 95(5):2316-2324.
|
| 21 |
Choi JH, Kang M, Kim GH, et al. Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to Terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure[J]. J Clin Endocrinol Metab, 2011, 96(1):E130-E134.
|
| 22 |
Kawashima Y, Higaki K, Fukushima T, et al. Novel missense mutation in the IGF-Ⅰ receptor L2 domain results in intrauterine and postnatal growth retardation[J]. Clin Endocrinol (Oxf), 2012, 77(2):246-54.
|
| 23 |
Wit JM, Kiess W, Mullis P, et al. Genetic evaluation of short stature[J]. Best Pract Res Clin Endocrinol Metab, 2011, 25(1):1-17.
|
| 24 |
Abuzzahab MJ, Schneider A, Goddard A, et al.IGF-Ⅰ receptor mutations resulting in intrauterine and postnatal growth retardation[J]. N Eng J Med, 2003, 349(23):2211-2222.
|
| 25 |
Ester WA, van Duyvenvoorde HA, de Wit CC, et al. Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype[J].J Clin Endocrinol Metab, 2009, 94(12):4717-4727.
|