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Items: 1 to 20 of 245

1.

Extreme elevation of serum growth hormone-binding protein concentrations resulting from a novel heterozygous splice site mutation of the growth hormone receptor gene.

Aalbers AM, Chin D, Pratt KL, Little BM, Frank SJ, Hwa V, Rosenfeld RG.

Horm Res. 2009;71(5):276-84. doi: 10.1159/000208801. Epub 2009 Apr 1.

PMID:
19339792
2.

Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: extended phenotypic study in a very large pedigree.

Silbergeld A, Dastot F, Klinger B, Kanety H, Eshet R, Amselem S, Laron Z.

J Pediatr Endocrinol Metab. 1997 May-Jun;10(3):265-74.

PMID:
9388817
3.
4.

Partial growth-hormone insensitivity: the role of growth-hormone receptor mutations in idiopathic short stature.

Goddard AD, Dowd P, Chernausek S, Geffner M, Gertner J, Hintz R, Hopwood N, Kaplan S, Plotnick L, Rogol A, Rosenfield R, Saenger P, Mauras N, Hershkopf R, Angulo M, Attie K.

J Pediatr. 1997 Jul;131(1 Pt 2):S51-5.

PMID:
9255229
5.

Effect of different growth hormone (GH) mutants on the regulation of GH-receptor gene transcription in a human hepatoma cell line.

Deladoëy J, Gex G, Vuissoz JM, Strasburger CJ, Wajnrajch MP, Mullis PE.

Eur J Endocrinol. 2002 Apr;146(4):573-81.

6.
7.

Growth hormone (GH)-binding proteins in GH-resistant guinea pigs.

Hull KL, Janssens WC, Baumbach WR, Harvey S.

Growth Regul. 1996 Sep;6(3):165-75.

PMID:
8894650
8.

Analysis of the intracellular signalling domain of the human growth hormone receptor in children with idiopathic short stature.

Johnston LB, Pashankar F, Camacho-Hübner C, Savage MO, Clark AJ.

Clin Endocrinol (Oxf). 2000 Apr;52(4):463-9.

PMID:
10762289
9.

Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism.

Arman A, Ozon A, Isguven PS, Coker A, Peker I, Yordam N.

J Pediatr Endocrinol Metab. 2008 Jan;21(1):47-58.

PMID:
18404972
10.

The GH receptor and GH insensitivity.

Ross RJ.

Growth Horm IGF Res. 1999 Jun;9 Suppl B:42-5; discussion 45-6. Review.

PMID:
10549305
11.

The D152H mutation found in growth hormone insensitivity syndrome impairs expression and function of human growth hormone receptor but is silent in rat receptor.

Esposito N, Wojcik J, Chomilier J, Martini JF, Kelly PA, Finidori J, Postel-Vinay MC.

J Mol Endocrinol. 1998 Aug;21(1):61-72.

12.

Clinical features and growth hormone receptor gene mutations of patients with Laron syndrome from a Chinese family.

Ying YQ, Wei H, Cao LZ, Lu JJ, Luo XP.

Zhongguo Dang Dai Er Ke Za Zhi. 2007 Aug;9(4):335-8.

PMID:
17706034
13.
14.

Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group.

Goddard AD, Covello R, Luoh SM, Clackson T, Attie KM, Gesundheit N, Rundle AC, Wells JA, Carlsson LM.

N Engl J Med. 1995 Oct 26;333(17):1093-8.

15.

A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome.

Feigerlova E, Swinyard M, Derr MA, Farnsworth J, Andrew SF, Rosenfeld RG, Hwa V.

Horm Res Paediatr. 2013;80(6):397-405. doi: 10.1159/000355404. Epub 2013 Nov 26.

PMID:
24296660
16.

Short stature and decreased insulin-like growth factor I (IGF-I)/growth hormone (GH)-ratio in an adult GH-deficient patient pointing to additional partial GH insensitivity due to a R179C mutation of the growth hormone receptor.

Meyer S, Ipek M, Keth A, Minnemann T, von Mach MA, Weise A, Ittner JR, Nawroth PP, Plöckinger U, Stalla GK, Tuschy U, Weber MM, Kann PH; German KIMS Board; German KIMS Pharmacogenetics Study Group.

Growth Horm IGF Res. 2007 Aug;17(4):307-14. Epub 2007 Apr 25.

PMID:
17462934
17.

Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome.

Hui HN, Metherell LA, Ng KL, Savage MO, Camacho-Hübner C, Clark AJ.

J Pediatr Endocrinol Metab. 2005 Feb;18(2):209-13.

PMID:
15751611
18.

A novel mutation of the growth hormone receptor gene (GHR) in a Chinese girl with Laron syndrome.

Chen X, Song F, Dai Y, Bao X, Jin Y.

J Pediatr Endocrinol Metab. 2003 Oct-Nov;16(8):1183-9.

PMID:
14594180
19.

Growth hormone binding protein. The soluble growth hormone receptor.

Baumann G.

Minerva Endocrinol. 2002 Dec;27(4):265-76. Review.

PMID:
12511849
20.

Relationship between nocturnal growth hormone concentrations, serum IGF-I/IGFBP-3 levels, insulin sensitivity and GH receptor allelic variant in small for gestational age children.

Mericq V, Román R, Iñiguez G, Angel B, Salazar T, Avila A, Perez-Bravo F, Cassorla F.

Horm Res. 2007;68(3):132-8. Epub 2007 Mar 9.

PMID:
17347571
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