107 related articles for article (PubMed ID: 22309212)
1. Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation.
Kawashima Y; Higaki K; Fukushima T; Hakuno F; Nagaishi J; Hanaki K; Nanba E; Takahashi S; Kanzaki S
Clin Endocrinol (Oxf); 2012 Aug; 77(2):246-54. PubMed ID: 22309212
[TBL] [Abstract][Full Text] [Related]
2. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.
Abuzzahab MJ; Schneider A; Goddard A; Grigorescu F; Lautier C; Keller E; Kiess W; Klammt J; Kratzsch J; Osgood D; Pfäffle R; Raile K; Seidel B; Smith RJ; Chernausek SD;
N Engl J Med; 2003 Dec; 349(23):2211-22. PubMed ID: 14657428
[TBL] [Abstract][Full Text] [Related]
3. Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.
Labarta JI; Barrio E; Audí L; Fernández-Cancio M; Andaluz P; de Arriba A; Puga B; Calvo MT; Mayayo E; Carrascosa A; Ferrández-Longás A
Clin Endocrinol (Oxf); 2013 Feb; 78(2):255-62. PubMed ID: 22738321
[TBL] [Abstract][Full Text] [Related]
4. A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor.
Walenkamp MJ; van der Kamp HJ; Pereira AM; Kant SG; van Duyvenvoorde HA; Kruithof MF; Breuning MH; Romijn JA; Karperien M; Wit JM
J Clin Endocrinol Metab; 2006 Aug; 91(8):3062-70. PubMed ID: 16757531
[TBL] [Abstract][Full Text] [Related]
5. Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.
Kawashima Y; Kanzaki S; Yang F; Kinoshita T; Hanaki K; Nagaishi J; Ohtsuka Y; Hisatome I; Ninomoya H; Nanba E; Fukushima T; Takahashi S
J Clin Endocrinol Metab; 2005 Aug; 90(8):4679-87. PubMed ID: 15928254
[TBL] [Abstract][Full Text] [Related]
6. A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization.
Inagaki K; Tiulpakov A; Rubtsov P; Sverdlova P; Peterkova V; Yakar S; Terekhov S; LeRoith D
J Clin Endocrinol Metab; 2007 Apr; 92(4):1542-8. PubMed ID: 17264177
[TBL] [Abstract][Full Text] [Related]
7. 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.
Wallborn T; Wüller S; Klammt J; Kruis T; Kratzsch J; Schmidt G; Schlicke M; Müller E; van de Leur HS; Kiess W; Pfäffle R
J Clin Endocrinol Metab; 2010 May; 95(5):2316-24. PubMed ID: 20357178
[TBL] [Abstract][Full Text] [Related]
8. Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation.
Kruis T; Klammt J; Galli-Tsinopoulou A; Wallborn T; Schlicke M; Müller E; Kratzsch J; Körner A; Odeh R; Kiess W; Pfäffle R
J Clin Endocrinol Metab; 2010 Mar; 95(3):1137-42. PubMed ID: 20103656
[TBL] [Abstract][Full Text] [Related]
9. IGF-I receptor mutations and intrauterine and postnatal growth retardation.
Unger S
N Engl J Med; 2004 Mar; 350(13):1362-3; author reply 1362-3. PubMed ID: 15044651
[No Abstract] [Full Text] [Related]
10. Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management.
Walenkamp MJ; Losekoot M; Wit JM
Endocr Dev; 2013; 24():128-37. PubMed ID: 23392101
[TBL] [Abstract][Full Text] [Related]
11. Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R.
Raile K; Klammt J; Schneider A; Keller A; Laue S; Smith R; Pfäffle R; Kratzsch J; Keller E; Kiess W
J Clin Endocrinol Metab; 2006 Jun; 91(6):2264-71. PubMed ID: 16569742
[TBL] [Abstract][Full Text] [Related]
12. Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay.
Fang P; Schwartz ID; Johnson BD; Derr MA; Roberts CT; Hwa V; Rosenfeld RG
J Clin Endocrinol Metab; 2009 May; 94(5):1740-7. PubMed ID: 19240156
[TBL] [Abstract][Full Text] [Related]
13. 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.
Choi JH; Kang M; Kim GH; Hong M; Jin HY; Lee BH; Park JY; Lee SM; Seo EJ; Yoo HW
J Clin Endocrinol Metab; 2011 Jan; 96(1):E130-4. PubMed ID: 20962017
[TBL] [Abstract][Full Text] [Related]
14. Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment.
Juanes M; Guercio G; Marino R; Berensztein E; Warman DM; Ciaccio M; Gil S; Bailez M; Rivarola MA; Belgorosky A
Clin Endocrinol (Oxf); 2015 May; 82(5):704-11. PubMed ID: 25040157
[TBL] [Abstract][Full Text] [Related]
15. Differential activation of insulin receptor substrates 1 and 2 by insulin-like growth factor-activated insulin receptors.
Denley A; Carroll JM; Brierley GV; Cosgrove L; Wallace J; Forbes B; Roberts CT
Mol Cell Biol; 2007 May; 27(10):3569-77. PubMed ID: 17325037
[TBL] [Abstract][Full Text] [Related]
16. Insulin-like growth factor receptor as a therapeutic target in head and neck cancer.
Barnes CJ; Ohshiro K; Rayala SK; El-Naggar AK; Kumar R
Clin Cancer Res; 2007 Jul; 13(14):4291-9. PubMed ID: 17634559
[TBL] [Abstract][Full Text] [Related]
17. Clinical examples of disturbed IGF signaling: intrauterine and postnatal growth retardation due to mutations of the insulin-like growth factor I receptor (IGF-IR) gene.
Kiess W; Kratzsch J; Keller E; Schneider A; Raile K; Klammt J; Seidel B; Garten A; Schmidt H; Pfäffle R
Rev Endocr Metab Disord; 2005 Aug; 6(3):183-7. PubMed ID: 16151622
[No Abstract] [Full Text] [Related]
18. Epidermal growth factor-induced activation of the insulin-like growth factor I receptor in rat hepatocytes.
Hallak H; Moehren G; Tang J; Kaou M; Addas M; Hoek JB; Rubin R
Hepatology; 2002 Dec; 36(6):1509-18. PubMed ID: 12447877
[TBL] [Abstract][Full Text] [Related]
19. Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp).
Leal AC; Montenegro LR; Saito RF; Ribeiro TC; Coutinho DC; Mendonca BB; Arnhold IJ; Jorge AA
Clin Endocrinol (Oxf); 2013 Apr; 78(4):558-63. PubMed ID: 22998174
[TBL] [Abstract][Full Text] [Related]
20. Structure-function of the human insulin-like growth factor-I receptor: a discordance of somatotroph internalization and signaling.
Yamasaki H; Prager D; Melmed S
Mol Endocrinol; 1993 May; 7(5):681-5. PubMed ID: 8316251
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]