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Items: 1 to 20 of 96

1.

A novel homozygous mutation of the IGFALS gene in a female adolescent: indirect evidence for a contributing role of the circulating IGF-I pool in the pubertal growth spurt.

Poukoulidou T, Kowalczyk J, Metherell L, De Schepper J, Maes M.

Horm Res Paediatr. 2014;81(6):422-7. doi: 10.1159/000358329. Epub 2014 May 6.

PMID:
24819402
2.

A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).

Hess O, Khayat M, Hwa V, Heath KE, Teitler A, Hritan Y, Allon-Shalev S, Tenenbaum-Rakover Y.

Clin Endocrinol (Oxf). 2013 Dec;79(6):838-44. doi: 10.1111/cen.12200. Epub 2013 Apr 13.

PMID:
23488611
3.

Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.

Heath KE, Argente J, Barrios V, Pozo J, Díaz-González F, Martos-Moreno GA, Caimari M, Gracia R, Campos-Barros A.

J Clin Endocrinol Metab. 2008 May;93(5):1616-24. doi: 10.1210/jc.2007-2678. Epub 2008 Feb 26. Erratum in: J Clin Endocrinol Metab. 2008 Jun;93(6):2426.

PMID:
18303074
4.

Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.

Domené HM, Scaglia PA, Lteif A, Mahmud FH, Kirmani S, Frystyk J, Bedecarrás P, Gutiérrez M, Jasper HG.

J Clin Endocrinol Metab. 2007 Nov;92(11):4444-50. Epub 2007 Aug 28.

PMID:
17726072
5.
6.

Acid-labile subunit deficiency and growth failure: description of two novel cases.

David A, Rose SJ, Miraki-Moud F, Metherell LA, Savage MO, Clark AJ, Camacho-Hübner C.

Horm Res Paediatr. 2010;73(5):328-34. doi: 10.1159/000308164. Epub 2010 Apr 14.

7.

Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations.

Işık E, Haliloglu B, van Doorn J, Demirbilek H, Scheltinga SA, Losekoot M, Wit JM.

Eur J Endocrinol. 2017 Jun;176(6):657-667. doi: 10.1530/EJE-16-0999. Epub 2017 Mar 1.

PMID:
28249955
8.

Acid-labile subunit (ALS) deficiency.

Domené HM, Hwa V, Jasper HG, Rosenfeld RG.

Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):101-13. doi: 10.1016/j.beem.2010.08.010. Review.

PMID:
21396577
9.

Normal growth spurt and final height despite low levels of all forms of circulating insulin-like growth factor-I in a patient with acid-labile subunit deficiency.

Domené HM, Martínez AS, Frystyk J, Bengolea SV, Ropelato MG, Scaglia PA, Chen JW, Heuck C, Wolthers OD, Heinrich JJ, Jasper HG.

Horm Res. 2007;67(5):243-9. Epub 2007 Jan 10.

PMID:
17213728
10.

Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.

Fofanova-Gambetti OV, Hwa V, Kirsch S, Pihoker C, Chiu HK, Högler W, Cohen LE, Jacobsen C, Derr MA, Rosenfeld RG.

Horm Res. 2009;71(2):100-10. doi: 10.1159/000183899. Epub 2009 Jan 8.

PMID:
19129715
11.

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..

Horm Res. 2009;72(3):129-41. doi: 10.1159/000232486. Epub 2009 Sep 1. Review. Erratum in: Horm Res. 2010;73(1):80. Wit, Jaan M [corrected to Wit, Jan M].

12.

Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.

Domené HM, Scaglia PA, Martínez AS, Keselman AC, Karabatas LM, Pipman VR, Bengolea SV, Guida MC, Ropelato MG, Ballerini MG, Lescano EM, Blanco MA, Heinrich JJ, Rey RA, Jasper HG.

Horm Res Paediatr. 2013;80(6):413-23. doi: 10.1159/000355412. Epub 2013 Dec 6.

PMID:
24335034
13.

Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency.

Storr HL, Prasad R, Temple IK, Metherell LA, Savage MO, Walker JM.

J Endocrinol Invest. 2015 Apr;38(4):407-12. doi: 10.1007/s40618-014-0195-1. Epub 2014 Oct 29.

PMID:
25352235
14.

Clinical features of a new acid-labile subunit (IGFALS) heterozygous mutation: anthropometric and biochemical characterization and response to growth hormone administration.

Grandone A, Miraglia del Giudice E, Cirillo G, Abbondanza C, Cioffi M, Romano T, Micillo F, Marzuillo P, Perrone L.

Horm Res Paediatr. 2014;81(1):67-72. doi: 10.1159/000355017. Epub 2013 Dec 12.

PMID:
24356109
15.

Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse.

Domené HM, Bengolea SV, Jasper HG, Boisclair YR.

J Endocrinol Invest. 2005;28(5 Suppl):43-6. Review.

PMID:
16114275
16.

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.

J Clin Endocrinol Metab. 2006 May;91(5):1826-31. Epub 2006 Feb 28.

PMID:
16507628
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.

Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain.

Aisenberg J, Auyeung V, Pedro HF, Sugalski R, Chartoff A, Rothenberg R, Derr MA, Hwa V, Rosenfeld RG.

Horm Res Paediatr. 2010;74(6):406-11. doi: 10.1159/000314968. Epub 2010 Jul 7.

PMID:
20606392
20.

Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.

Fofanova-Gambetti OV, Hwa V, Wit JM, Domene HM, Argente J, Bang P, Högler W, Kirsch S, Pihoker C, Chiu HK, Cohen L, Jacobsen C, Jasper HG, Haeusler G, Campos-Barros A, Gallego-Gómez E, Gracia-Bouthelier R, van Duyvenvoorde HA, Pozo J, Rosenfeld RG.

J Clin Endocrinol Metab. 2010 Sep;95(9):4184-91. doi: 10.1210/jc.2010-0489. Epub 2010 Jun 30.

PMID:
20591980

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