Similar articles for PMID: 18349070

Year	Number of Results
1986	1
1991	2
1992	1
1995	2
1996	2
1997	3
1998	3
1999	2
2000	1
2002	3
2003	2
2004	2
2005	9
2006	9
2007	8
2008	8
2009	14
2010	10
2011	10
2012	10
2013	11
2014	7
2015	10
2016	4
2017	12
2018	3
2019	12
2020	5
2021	8
2022	3
2023	1
2024	1

1

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.

Walenkamp MJ, de Muinck Keizer-Schrama SM, de Mos M, Kalf ME, van Duyvenvoorde HA, Boot AM, Kant SG, White SJ, Losekoot M, Den Dunnen JT, Karperien M, Wit JM. Walenkamp MJ, et al. J Clin Endocrinol Metab. 2008 Jun;93(6):2421-5. doi: 10.1210/jc.2007-1789. Epub 2008 Mar 18. J Clin Endocrinol Metab. 2008. PMID: 18349070

2

Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.

Ester WA, van Duyvenvoorde HA, de Wit CC, Broekman AJ, Ruivenkamp CA, Govaerts LC, Wit JM, Hokken-Koelega AC, Losekoot M. Ester WA, et al. J Clin Endocrinol Metab. 2009 Dec;94(12):4717-27. doi: 10.1210/jc.2008-1502. Epub 2009 Oct 28. J Clin Endocrinol Metab. 2009. PMID: 19864454

3

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. Choi JH, et al. J Clin Endocrinol Metab. 2011 Jan;96(1):E130-4. doi: 10.1210/jc.2010-1789. Epub 2010 Oct 20. J Clin Endocrinol Metab. 2011. PMID: 20962017

4

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. Labarta JI, et al. Clin Endocrinol (Oxf). 2013 Feb;78(2):255-62. doi: 10.1111/j.1365-2265.2012.04481.x. Clin Endocrinol (Oxf). 2013. PMID: 22738321

5

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. Walenkamp MJ, et al. J Clin Endocrinol Metab. 2006 Aug;91(8):3062-70. doi: 10.1210/jc.2005-1597. Epub 2006 Jun 6. J Clin Endocrinol Metab. 2006. PMID: 16757531

6

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. Leal AC, et al. Clin Endocrinol (Oxf). 2013 Apr;78(4):558-63. doi: 10.1111/cen.12048. Clin Endocrinol (Oxf). 2013. PMID: 22998174

7

Phenotype-genotype correlation in a familial IGF1R microdeletion case.

Veenma DC, Eussen HJ, Govaerts LC, de Kort SW, Odink RJ, Wouters CH, Hokken-Koelega AC, de Klein A. Veenma DC, et al. J Med Genet. 2010 Jul;47(7):492-8. doi: 10.1136/jmg.2009.070730. Epub 2009 Dec 2. J Med Genet. 2010. PMID: 19955558

8

Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene.

Okubo Y, Siddle K, Firth H, O'Rahilly S, Wilson LC, Willatt L, Fukushima T, Takahashi S, Petry CJ, Saukkonen T, Stanhope R, Dunger DB. Okubo Y, et al. J Clin Endocrinol Metab. 2003 Dec;88(12):5981-8. doi: 10.1210/jc.2002-021080. J Clin Endocrinol Metab. 2003. PMID: 14671200

9

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 Jr, Hwa V, Rosenfeld RG. Fang P, et al. J Clin Endocrinol Metab. 2009 May;94(5):1740-7. doi: 10.1210/jc.2008-1903. Epub 2009 Feb 24. J Clin Endocrinol Metab. 2009. PMID: 19240156

10

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. Kruis T, et al. J Clin Endocrinol Metab. 2010 Mar;95(3):1137-42. doi: 10.1210/jc.2009-1433. Epub 2010 Jan 26. J Clin Endocrinol Metab. 2010. PMID: 20103656

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