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Items: 1 to 20 of 108

1.

Isolated growth hormone deficiency type 2: from gene to therapy.

Miletta MC, Lochmatter D, Pektovic V, Mullis PE.

Endocr Dev. 2012;23:109-20. doi: 10.1159/000341766. Epub 2012 Nov 23. Review.

PMID:
23182825
2.

Targeting GH-1 splicing as a novel pharmacological strategy for growth hormone deficiency type II.

Miletta MC, Flück CE, Mullis PE.

Biochem Pharmacol. 2017 Jan 15;124:1-9. doi: 10.1016/j.bcp.2016.07.016. Epub 2016 Jul 22. Review.

PMID:
27457999
3.

Rescue of pituitary function in a mouse model of isolated growth hormone deficiency type II by RNA interference.

Shariat N, Ryther RC, Phillips JA 3rd, Robinson IC, Patton JG.

Endocrinology. 2008 Feb;149(2):580-6. Epub 2007 Nov 15.

4.

Autosomal Dominant Growth Hormone Deficiency (Type II).

Alatzoglou KS, Kular D, Dattani MT.

Pediatr Endocrinol Rev. 2015 Jun;12(4):347-55. Review. Erratum in: Pediatr Endocrinol Rev. 2015 Dec;13(2):498.

PMID:
26182479
5.

Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort.

Lido AC, França MM, Correa FA, Otto AP, Carvalho LR, Quedas EP, Nishi MY, Mendonca BB, Arnhold IJ, Jorge AA.

Growth Horm IGF Res. 2014 Oct;24(5):180-6. doi: 10.1016/j.ghir.2014.07.001. Epub 2014 Jul 30.

PMID:
25116472
6.

Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene.

Fintini D, Salvatori R, Salemi S, Otten B, Ubertini G, Cambiaso P, Mullis PE.

Horm Res. 2006;65(2):76-82. Epub 2006 Jan 18.

PMID:
16424673
7.

Rescue of Isolated GH Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing.

Miletta MC, Petkovic V, Eblé A, Flück CE, Mullis PE.

Endocrinology. 2016 Oct;157(10):3972-3982. Epub 2016 Jun 2.

PMID:
27253996
8.

Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice.

McGuinness L, Magoulas C, Sesay AK, Mathers K, Carmignac D, Manneville JB, Christian H, Phillips JA 3rd, Robinson IC.

Endocrinology. 2003 Feb;144(2):720-31.

PMID:
12538635
9.

De novo mutations of the growth hormone gene: an important cause of congenital isolated growth hormone deficiency?

Massa GG, Binder G, Oostdijk W, Ranke MB, Wit JM.

Eur J Pediatr. 1998 Apr;157(4):272-5.

PMID:
9578959
10.

Catch-up growth in autosomal dominant isolated growth hormone deficiency (IGHD type II).

Binder G, Iliev DI, Mullis PE, Ranke MB.

Growth Horm IGF Res. 2007 Jun;17(3):242-8. Epub 2007 Mar 13.

PMID:
17360215
11.

Evolution of gonadotropin deficiency in a patient with type II autosomal dominant GH deficiency.

Turton JP, Buchanan CR, Robinson IC, Aylwin SJ, Dattani MT.

Eur J Endocrinol. 2006 Dec;155(6):793-9.

12.

Growth hormone (GH)-releasing hormone increases the expression of the dominant-negative GH isoform in cases of isolated GH deficiency due to GH splice-site mutations.

Petkovic V, Godi M, Lochmatter D, Eblé A, Flück CE, Robinson IC, Mullis PE.

Endocrinology. 2010 Jun;151(6):2650-8. doi: 10.1210/en.2009-1280. Epub 2010 Mar 29.

PMID:
20351314
13.

Molecular basis of familial growth hormone deficiency.

Pérez Jurado LA, Argente J.

Horm Res. 1994;42(4-5):189-97. Review.

PMID:
7868072
14.

Treatment of isolated growth hormone deficiency type IA due to GH-I gene deletion with recombinant human insulin-like growth factor I.

Nishi Y, Hamamoto K, Kajiyama M, Fujiwara M, Miyagawa S, Hasegawa Y, Hasegawa T.

Acta Paediatr. 1993 Nov;82(11):983-6.

PMID:
7509217
15.

GH1 gene deletions and IGHD type 1A.

Cogan JD, Phillips JA 3rd.

Pediatr Endocrinol Rev. 2006 Aug;3 Suppl 3:480-8. Review. Erratum in: Pediatr Endocrinol Rev. 2007 Sep;5(1):470.

PMID:
17551470
17.

Isolated growth hormone (GH) deficiency in adult patients: baseline clinical characteristics and responses to GH replacement in comparison with hypopituitary patients. A sub-analysis of the KIMS database.

Abs R, Mattsson AF, Bengtsson BA, Feldt-Rasmussen U, Góth MI, Koltowska-Häggström M, Monson JP, Verhelst J, Wilton P; KIMS Study Group.

Growth Horm IGF Res. 2005 Oct;15(5):349-59.

PMID:
16168692
18.
19.

[Effects of recombinant human growth hormone (GH) replacement therapy on bone metabolism in children with GH deficiency].

Li Y, Chen LQ, Liang L.

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2005 Jul;34(4):312-5. Chinese.

PMID:
16059977
20.

Acromegalic features in growth hormone (GH)-deficient patients after long-term GH therapy.

Carvalho LR, de Faria ME, Osorio MG, Estefan V, Jorge AA, Arnhold IJ, Mendonca BB.

Clin Endocrinol (Oxf). 2003 Dec;59(6):788-92.

PMID:
14974923

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