304 related articles for article (PubMed ID: 11232012)
1. 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; 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. PubMed ID: 11232012
[TBL] [Abstract][Full Text] [Related]
2. A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency.
Carakushansky M; Whatmore AJ; Clayton PE; Shalet SM; Gleeson HK; Price DA; Levine MA; Salvatori R
Eur J Endocrinol; 2003 Jan; 148(1):25-30. PubMed ID: 12534354
[TBL] [Abstract][Full Text] [Related]
3. Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site.
Salvatori R; Fan X; Mullis PE; Haile A; Levine MA
Mol Endocrinol; 2002 Mar; 16(3):450-8. PubMed ID: 11875102
[TBL] [Abstract][Full Text] [Related]
4. A novel frame shift mutation in the GHRH receptor gene in familial isolated GH deficiency: early occurrence of anterior pituitary hypoplasia.
Shohreh R; Sherafat-Kazemzadeh R; Jee YH; Blitz A; Salvatori R
J Clin Endocrinol Metab; 2011 Oct; 96(10):2982-6. PubMed ID: 21816782
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 16355809
[TBL] [Abstract][Full Text] [Related]
6. Diseases associated with growth hormone-releasing hormone receptor (GHRHR) mutations.
Martari M; Salvatori R
Prog Mol Biol Transl Sci; 2009; 88():57-84. PubMed ID: 20374725
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 19622623
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 19567534
[TBL] [Abstract][Full Text] [Related]
9. 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; Prince M; Levine MA
Clin Endocrinol (Oxf); 2001 May; 54(5):681-7. PubMed ID: 11380500
[TBL] [Abstract][Full Text] [Related]
10. Variability in anterior pituitary size within members of a family with GH deficiency due to a new splice mutation in the GHRH receptor gene.
Alba M; Hall CM; Whatmore AJ; Clayton PE; Price DA; Salvatori R
Clin Endocrinol (Oxf); 2004 Apr; 60(4):470-5. PubMed ID: 15049962
[TBL] [Abstract][Full Text] [Related]
11. A novel gross indel in the growth hormone releasing hormone receptor gene of Indian IGHD patients.
Kale S; Budyal S; Kasaliwal R; Shivane V; Raghavan V; Lila A; Bandgar T; Shah N
Growth Horm IGF Res; 2014 Dec; 24(6):227-32. PubMed ID: 25153028
[TBL] [Abstract][Full Text] [Related]
12. Novel growth hormone-releasing hormone receptor gene mutations in Turkish children with isolated growth hormone deficiency.
Arman A; Dündar BN; Çetinkaya E; Erzaim N; Büyükgebiz A
J Clin Res Pediatr Endocrinol; 2014 Dec; 6(4):202-8. PubMed ID: 25541890
[TBL] [Abstract][Full Text] [Related]
13. Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.
Salvatori R; Hayashida CY; Aguiar-Oliveira MH; Phillips JA; Souza AH; Gondo RG; Toledo SP; Conceicão MM; Prince M; Maheshwari HG; Baumann G; Levine MA
J Clin Endocrinol Metab; 1999 Mar; 84(3):917-23. PubMed ID: 10084571
[TBL] [Abstract][Full Text] [Related]
14. Detection of a recurring mutation in the human growth hormone-releasing hormone receptor gene.
Salvatori R; Aguiar-Oliveira MH; Monte LV; Hedges L; Santos NL; Pereira RM; Phillips JA
Clin Endocrinol (Oxf); 2002 Jul; 57(1):77-80. PubMed ID: 12100073
[TBL] [Abstract][Full Text] [Related]
15. Exclusion of growth hormone (GH)-releasing hormone gene mutations in familial isolated GH deficiency by linkage and single strand conformation analysis.
Pérez Jurado LA; Phillips JA; Francke U
J Clin Endocrinol Metab; 1994 Mar; 78(3):622-8. PubMed ID: 8126133
[TBL] [Abstract][Full Text] [Related]
16. Molecular and clinical aspects of GHRH receptor mutations.
Corazzini V; Salvatori R
Endocr Dev; 2013; 24():106-17. PubMed ID: 23392099
[TBL] [Abstract][Full Text] [Related]
17. Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GH-releasing hormone receptor gene.
Salvatori R; Fan X; Veldhuis JD; Couch R
Eur J Endocrinol; 2002 Nov; 147(5):591-6. PubMed ID: 12444890
[TBL] [Abstract][Full Text] [Related]
18. Familial Growth Hormone Deficiency and Mutations in the GHRH Receptor Gene.
Alba M; Salvatori R
Vitam Horm; 2004; 69():209-20. PubMed ID: 15196883
[TBL] [Abstract][Full Text] [Related]
19. Naturally-occurring missense mutations in the human growth hormone-releasing hormone receptor alter ligand binding.
Alba M; Salvatori R
J Endocrinol; 2005 Sep; 186(3):515-21. PubMed ID: 16135671
[TBL] [Abstract][Full Text] [Related]
20. Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia.
Demirbilek H; Tahir S; Baran RT; Sherif M; Shah P; Ozbek MN; Hatipoglu N; Baran A; Arya VB; Hussain K
J Clin Endocrinol Metab; 2014 Dec; 99(12):E2730-4. PubMed ID: 25226297
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]