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Items: 9

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1.

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
2.

Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements.

Babu D, Mellone S, Fusco I, Petri A, Walker GE, Bellone S, Prodam F, Momigliano-Richiardi P, Bona G, Giordano M.

Endocrinology. 2014 May;155(5):1786-92. doi: 10.1210/en.2013-2146. Epub 2014 Mar 17.

PMID:
24635352
3.

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
4.

Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.

Alatzoglou KS, Turton JP, Kelberman D, Clayton PE, Mehta A, Buchanan C, Aylwin S, Crowne EC, Christesen HT, Hertel NT, Trainer PJ, Savage MO, Raza J, Banerjee K, Sinha SK, Ten S, Mushtaq T, Brauner R, Cheetham TD, Hindmarsh PC, Mullis PE, Dattani MT.

J Clin Endocrinol Metab. 2009 Sep;94(9):3191-9. doi: 10.1210/jc.2008-2783. Epub 2009 Jun 30.

PMID:
19567534
5.

A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency.

Fofanova OV, Evgrafov OV, Polyakov AV, Peterkova VA, Dedov II.

Hormones (Athens). 2006 Oct-Dec;5(4):288-94.

6.

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.

7.

Dose dependency of the serum bio/immuno GH ratio in children during pharmacological secretion tests.

Chaler EA, Travaglino P, Pagani S, Bozzola E, Marino R, Berensztein E, Maceiras M, Tauber M, Rivarola MA, Belgorosky A, Bozzola M.

J Endocrinol Invest. 2006 Feb;29(2):109-14.

PMID:
16610235
8.

Molecular basis of familial growth hormone deficiency.

Pérez Jurado LA, Argente J.

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

PMID:
7868072
9.

A patient with pituitary growth hormone deficiency and May-Hegglin anomaly: a distinct entity?

Gerver WJ, Neucker AV, Schrander-Stumpel CT.

Genet Couns. 1994;5(3):307-10.

PMID:
7811433

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