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Items: 1 to 20 of 283

1.

Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh.

Maheshwari HG, Silverman BL, Dupuis J, Baumann G.

J Clin Endocrinol Metab. 1998 Nov;83(11):4065-74.

PMID:
9814493
2.
3.

Growth hormone releasing hormone receptor (GHRH-r) gene mutation in Indian children with familial isolated growth hormone deficiency: a study from western India.

Desai MP, Upadhye PS, Kamijo T, Yamamoto M, Ogawa M, Hayashi Y, Seo H, Nair SR.

J Pediatr Endocrinol Metab. 2005 Oct;18(10):955-73.

PMID:
16355809
4.

Familial growth hormone deficiency with mutated GHRH receptor gene: clinical and hormonal findings in homozygous and heterozygous individuals from Itabaianinha.

Hayashida CY, Gondo RG, Ferrari C, Toledo SP, Salvatori R, Levine MA, Ezabella MC, Abelin N, Gianella-Neto D, Wajchenberg BL.

Eur J Endocrinol. 2000 Jun;142(6):557-63.

5.

Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.

Netchine I, Talon P, Dastot F, Vitaux F, Goossens M, Amselem S.

J Clin Endocrinol Metab. 1998 Feb;83(2):432-6.

PMID:
9467553
6.

Mutations in the growth hormone releasing hormone receptor: a new form of dwarfism in humans.

Baumann G.

Growth Horm IGF Res. 1999 Jun;9 Suppl B:24-9; discussion 29-30. Review.

PMID:
10549302
8.

Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.

Soneda A, Adachi M, Muroya K, Asakura Y, Takagi M, Hasegawa T, Inoue H, Itakura M.

Growth Horm IGF Res. 2013 Aug;23(4):89-97. doi: 10.1016/j.ghir.2013.03.003. Epub 2013 Apr 18.

PMID:
23602557
9.

Molecular and clinical aspects of GHRH receptor mutations.

Corazzini V, Salvatori R.

Endocr Dev. 2013;24:106-17. doi: 10.1159/000342575. Epub 2013 Feb 1. Review.

PMID:
23392099
10.

Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency.

Gregory LC, Alatzoglou KS, McCabe MJ, Hindmarsh PC, Saldanha JW, Romano N, Le Tissier P, Dattani MT.

J Clin Endocrinol Metab. 2016 Oct;101(10):3608-3615. Epub 2016 Aug 8.

PMID:
27501283
11.

Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene.

Murray RA, Maheshwari HG, Russell EJ, Baumann G.

AJNR Am J Neuroradiol. 2000 Apr;21(4):685-9.

12.

Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene.

Salvatori R, Fan X, Phillips JA 3rd, Prince M, Levine MA.

Clin Endocrinol (Oxf). 2001 May;54(5):681-7.

PMID:
11380500
13.

Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.

Hilal L, Hajaji Y, Vie-Luton MP, Ajaltouni Z, Benazzouz B, Chana M, Chraïbi A, Kadiri A, Amselem S, Sobrier ML.

Mol Med. 2008 May-Jun;14(5-6):286-92. doi: 10.2119/2007-00128.Hilal.

15.

Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism.

Wang Q, Diao Y, Xu Z, Li X, Luo XP, Xu H, Ouyang P, Liu M, Hu Z, Wang QK, Liu JY.

Mol Cell Endocrinol. 2009 Dec 10;313(1-2):50-6. doi: 10.1016/j.mce.2009.08.021. Epub 2009 Sep 4. Erratum in: Mol Cell Endocrinol. 2010 Apr 12;317(1-2):168-9.

PMID:
19733620
16.
17.

Genetics of GHRH, GHRH-receptor, GH and GH-receptor: its impact on pharmacogenetics.

Mullis PE.

Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):25-41. doi: 10.1016/j.beem.2010.06.006. Review.

PMID:
21396573
18.

Selective lack of growth hormone (GH) response to the GH-releasing peptide hexarelin in patients with GH-releasing hormone receptor deficiency.

Maheshwari HG, Rahim A, Shalet SM, Baumann G.

J Clin Endocrinol Metab. 1999 Mar;84(3):956-9.

PMID:
10084578
19.

Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib.

Salvatori R, Fan X, Phillips JA 3rd, Espigares-Martin R, Martin De Lara I, Freeman KL, Plotnick L, Al-Ashwal A, Levine MA.

J Clin Endocrinol Metab. 2001 Jan;86(1):273-9.

PMID:
11232012
20.

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.

Correa FA, França MM, Fang Q, Ma Q, Bachega TA, Rodrigues A, Ozel BA, Li JZ, Mendonca BB, Jorge AAL, Carvalho LR, Camper SA, Arnhold IJP.

Arch Endocrinol Metab. 2017 Dec;61(6):633-636. doi: 10.1590/2359-3997000000311.

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