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Items: 1 to 20 of 69

1.

Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation.

Kawashima Y, Hakuno F, Okada S, Hotsubo T, Kinoshita T, Fujimoto M, Nishimura R, Fukushima T, Hanaki K, Takahashi S, Kanzaki S.

Clin Endocrinol (Oxf). 2014 Aug;81(2):312-4. doi: 10.1111/cen.12317. Epub 2013 Sep 30. No abstract available.

PMID:
24033502
2.

Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R).

Fang P, Cho YH, Derr MA, Rosenfeld RG, Hwa V, Cowell CT.

J Clin Endocrinol Metab. 2012 Feb;97(2):E243-7. doi: 10.1210/jc.2011-2142. Epub 2011 Nov 30.

PMID:
22130793
3.

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. doi: 10.1210/jc.2009-1433. Epub 2010 Jan 26.

PMID:
20103656
4.

Heterozygous deletion of exons 18 and 19 of IGF1R in an individual with short stature.

Chanprasert S, Smith JL, Hixson P, Patel A, Lalani SR.

Clin Dysmorphol. 2014 Jul;23(3):98-100. doi: 10.1097/MCD.0000000000000032. No abstract available.

PMID:
24595282
5.

Alu-mediated recombination defect in IGF1R: haploinsufficiency in a patient with short stature.

Harmel EM, Binder G, Barnikol-Oettler A, Caliebe J, Kiess W, Losekoot M, Ranke MB, Rappold GA, Schlicke M, Stobbe H, Wit JM, Pfäffle R, Klammt J.

Horm Res Paediatr. 2013;80(6):431-42. doi: 10.1159/000355410. Epub 2013 Nov 26.

PMID:
24296753
6.

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. doi: 10.1111/j.1365-2265.2012.04481.x.

PMID:
22738321
7.

Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r).

Liu JP, Baker J, Perkins AS, Robertson EJ, Efstratiadis A.

Cell. 1993 Oct 8;75(1):59-72.

PMID:
8402901
8.

Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.

Rudaks LI, Nicholl JK, Bratkovic D, Barnett CP.

Am J Med Genet A. 2011 Dec;155A(12):3139-43. doi: 10.1002/ajmg.a.34310. Epub 2011 Nov 7. Review. No abstract available.

PMID:
22065603
9.

[Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation].

Leal Ade C, Canton AP, Montenegro LR, Coutinho DC, Arnhold IJ, Jorge AA.

Arq Bras Endocrinol Metabol. 2011 Nov;55(8):541-9. Review. Portuguese.

10.

Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.

Müller E, Dunstheimer D, Klammt J, Friebe D, Kiess W, Kratzsch J, Kruis T, Laue S, Pfäffle R, Wallborn T, Heidemann PH.

PLoS One. 2012;7(5):e38220. doi: 10.1371/journal.pone.0038220. Epub 2012 May 31.

11.

The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein.

van Duyvenvoorde HA, van Doorn J, Koenig J, Gauguin L, Oostdijk W, Wade JD, Karperien M, Ruivenkamp CA, Losekoot M, van Setten PA, Walenkamp MJ, Noordam C, De Meyts P, Wit JM.

Growth Horm IGF Res. 2011 Feb;21(1):44-50. doi: 10.1016/j.ghir.2010.12.004. Epub 2011 Jan 14.

PMID:
21237682
12.

Role of insulin-like growth factors in growth, development and feeding.

Wit JM, Walenkamp MJ.

World Rev Nutr Diet. 2013;106:60-5. doi: 10.1159/000342546. Epub 2013 Feb 11. Review.

PMID:
23428682
13.

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.

Gannagé-Yared MH, Klammt J, Chouery E, Corbani S, Mégarbané H, Abou Ghoch J, Choucair N, Pfäffle R, Mégarbané A.

Eur J Endocrinol. 2012 Dec 10;168(1):K1-7. doi: 10.1530/EJE-12-0701. Print 2013 Jan.

14.

Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature.

Guevara-Aguirre J, Rosenbloom AL, Guevara-Aguirre M, Yariz K, Saavedra J, Baumbach L, Shuster J.

Growth Horm IGF Res. 2007 Jun;17(3):261-4. Epub 2007 Mar 9.

PMID:
17350302
15.

Insulin-like growth factor type-1 receptor down-regulation associated with dwarfism in Holstein calves.

Blum JW, Elsasser TH, Greger DL, Wittenberg S, de Vries F, Distl O.

Domest Anim Endocrinol. 2007 Oct;33(3):245-68. Epub 2006 Jun 12.

PMID:
16829014
16.

Familial short stature with IGF-I receptor gene anomaly.

Kawashima Y, Takahashi S, Kanzaki S.

Endocr J. 2012;59(3):179-85. Epub 2011 Oct 19. Review.

17.

Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit.

van Duyvenvoorde HA, Kempers MJ, Twickler TB, van Doorn J, Gerver WJ, Noordam C, Losekoot M, Karperien M, Wit JM, Hermus AR.

Eur J Endocrinol. 2008 Aug;159(2):113-20. doi: 10.1530/EJE-08-0081. Epub 2008 May 7.

18.

Functionally significant insulin-like growth factor I receptor mutations in centenarians.

Suh Y, Atzmon G, Cho MO, Hwang D, Liu B, Leahy DJ, Barzilai N, Cohen P.

Proc Natl Acad Sci U S A. 2008 Mar 4;105(9):3438-42. doi: 10.1073/pnas.0705467105. Epub 2008 Mar 3.

19.

Association of two SNPs in the coding region of the insulin-like growth factor 1 receptor (IGF1R) gene with growth-related traits in Angus cattle.

Szewczuk M, Zych S, Wójcik J, Czerniawska-Piątkowska E.

J Appl Genet. 2013 Aug;54(3):305-8. doi: 10.1007/s13353-013-0155-z. Epub 2013 Jun 19.

20.

A dominant negative type I insulin-like growth factor receptor inhibits metastasis of human cancer cells.

Sachdev D, Hartell JS, Lee AV, Zhang X, Yee D.

J Biol Chem. 2004 Feb 6;279(6):5017-24. Epub 2003 Nov 13.

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