PubMed for id: 1390394

Year	Number of Results
2005	1
2006	2
2007	2
2008	1
2009	1
2013	2
2014	1
2023	0

1

IGFALS gene dosage effects on serum IGF-I and glucose metabolism, body composition, bone growth in length and width, and the pharmacokinetics of recombinant human IGF-I administration.

Högler W, Martin DD, Crabtree N, Nightingale P, Tomlinson J, Metherell L, Rosenfeld R, Hwa V, Rose S, Walker J, Shaw N, Barrett T, Frystyk J. Högler W, et al. J Clin Endocrinol Metab. 2014 Apr;99(4):E703-12. doi: 10.1210/jc.2013-3718. Epub 2014 Jan 13. J Clin Endocrinol Metab. 2014. PMID: 24423360 Clinical Trial.

2

Novel acid-labile subunit ( IGFALS ) mutation p.T145K (c.434C>A) in a patient with ALS deficiency, normal stature and immunological dysfunction.

Schreiner F, Schoenberger S, Koester B, Domené HM, Woelfle J. Schreiner F, et al. Horm Res Paediatr. 2013;80(6):424-30. doi: 10.1159/000355927. Epub 2013 Nov 27. Horm Res Paediatr. 2013. PMID: 24296365

3

IGF-I in human growth: lessons from defects in the GH-IGF-I axis.

Hwa V, Fang P, Derr MA, Fiegerlova E, Rosenfeld RG. Hwa V, et al. Nestle Nutr Inst Workshop Ser. 2013;71:43-55. doi: 10.1159/000342548. Epub 2013 Jan 22. Nestle Nutr Inst Workshop Ser. 2013. PMID: 23502138

4

Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.

Domené HM, Hwa V, Argente J, Wit JM, Camacho-Hübner C, Jasper HG, Pozo J, van Duyvenvoorde HA, Yakar S, Fofanova-Gambetti OV, Rosenfeld RG; International ALS Collaborative Group. Domené HM, et al. Horm Res. 2009;72(3):129-41. doi: 10.1159/000232486. Epub 2009 Sep 1. Horm Res. 2009. PMID: 19729943 Free article. Review.

5

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. van Duyvenvoorde HA, et al. Eur J Endocrinol. 2008 Aug;159(2):113-20. doi: 10.1530/EJE-08-0081. Epub 2008 May 7. Eur J Endocrinol. 2008. PMID: 18463107

6

Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?

Savage MO, Camacho-Hübner C, David A, Metherell LA, Hwa V, Rosenfeld RG, Clark AJ. Savage MO, et al. Eur J Endocrinol. 2007 Aug;157 Suppl 1:S33-7. doi: 10.1530/EJE-07-0292. Eur J Endocrinol. 2007. PMID: 17785695 Review.

7

IGF-I, IGFBP-3 and ALS generation test in Turner syndrome.

Pessoa de Queiroz AN, Collett-Solberg PF, Cardoso ME, Jusan RC, Vaisman M, Guimarães MM. Pessoa de Queiroz AN, et al. Growth Horm IGF Res. 2007 Jun;17(3):254-60. doi: 10.1016/j.ghir.2007.03.003. Epub 2007 May 30. Growth Horm IGF Res. 2007. PMID: 17540594 Clinical Trial.

8

Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure.

Hwa V, Haeusler G, Pratt KL, Little BM, Frisch H, Koller D, Rosenfeld RG. Hwa V, et al. J Clin Endocrinol Metab. 2006 May;91(5):1826-31. doi: 10.1210/jc.2005-2842. Epub 2006 Feb 28. J Clin Endocrinol Metab. 2006. PMID: 16507628

9

Noonan syndrome: relationships between genotype, growth, and growth factors.

Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y. Limal JM, et al. J Clin Endocrinol Metab. 2006 Jan;91(1):300-6. doi: 10.1210/jc.2005-0983. Epub 2005 Nov 1. J Clin Endocrinol Metab. 2006. PMID: 16263833

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