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Results: 1 to 20 of 178

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
[PubMed - indexed for MEDLINE]
2.

The Dwarfs of Sindh: severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.

Baumann G, Maheshwari H.

Acta Paediatr Suppl. 1997 Nov;423:33-8.

PMID:
9401536
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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.

PMID:
10822217
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
7.
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
10782778
[PubMed - indexed for MEDLINE]
Free Article
11.

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
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
18297129
[PubMed - indexed for MEDLINE]
Free PMC Article
13.
14.

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
[PubMed - indexed for MEDLINE]
15.

Increase in mRNA concentrations of pituitary receptors for growth hormone-releasing hormone and growth hormone secretagogues after neonatal monosodium glutamate treatment.

Kovacs M, Kineman RD, Schally AV, Flerko B, Frohman LA.

J Neuroendocrinol. 2000 Apr;12(4):335-41.

PMID:
10718930
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

Growth hormone (GH) secretion in patients with an inactivating defect of the GH-releasing hormone (GHRH) receptor is pulsatile: evidence for a role for non-GHRH inputs into the generation of GH pulses.

Roelfsema F, Biermasz NR, Veldman RG, Veldhuis JD, Frölich M, Stokvis-Brantsma WH, Wit JM.

J Clin Endocrinol Metab. 2001 Jun;86(6):2459-64.

PMID:
11397840
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.

Godi M, Mellone S, Petri A, Arrigo T, Bardelli C, Corrado L, Bellone S, Prodam F, Momigliano-Richiardi P, Bona G, Giordano M.

J Clin Endocrinol Metab. 2009 Oct;94(10):3939-47. doi: 10.1210/jc.2009-0833. Epub 2009 Jul 21.

PMID:
19622623
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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