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Items: 1 to 20 of 110

1.

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.

2.

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
3.

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. doi: 10.1210/jc.2011-1031. Erratum in: J Clin Endocrinol Metab. 2012 Jan;97(1):307.

PMID:
21816782
4.

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
5.

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.

PMID:
11875102
6.

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.

PMID:
19622623
7.

A new mutation in the growth hormone-releasing hormone receptor gene in two Israeli Arab families.

Haskin O, Lazar L, Jaber L, Salvatori R, Alba M, Kornreich L, Phillip M, Gat-Yablonski G.

J Endocrinol Invest. 2006 Feb;29(2):122-30.

PMID:
16610237
8.

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
9.

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. doi: 10.1210/jc.2014-2696.

PMID:
25226297
10.

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. doi: 10.1016/j.ghir.2014.07.003.

PMID:
25153028
11.

Two siblings with isolated GH deficiency due to loss-of-function mutation in the GHRHR gene: successful treatment with growth hormone despite late admission and severe growth retardation.

Sıklar Z, Berberoğlu M, Legendre M, Amselem S, Evliyaoğlu O, Hacıhamdioğlu B, Savaş Erdeve S, Oçal G.

J Clin Res Pediatr Endocrinol. 2010;2(4):164-7. doi: 10.4274/jcrpe.v2i4.164.

12.

GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects.

Marui S, Trarbach EB, Boguszewski MC, França MM, Jorge AA, Inoue H, Nishi MY, de Lacerda Filho L, Aguiar-Oliveira MH, Mendonca BB, Arnhold IJ.

Horm Res Paediatr. 2012;78(3):165-72. doi: 10.1159/000342760.

PMID:
23052699
13.

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.

PMID:
15049962
14.

Elevation of growth hormone-releasing hormone receptor messenger ribonucleic acid expression in growth hormone-secreting pituitary adenoma with Gsalpha protein mutation.

Sakai N, Kim K, Sanno N, Yoshida D, Teramoto A, Shibasaki T.

Neurol Med Chir (Tokyo). 2008;48(11):481-7; discussion 487-8.

15.

Phenotypic analysis and growth response to different growth hormone treatment schedules in two siblings with an inactivating mutation in the growth hormone-releasing hormone receptor gene.

Espigares R, Martín de Lara I, Ruiz-Cabello F, Ortega L, Ferrández Longás A, Argente J, Salvatori R.

J Pediatr Endocrinol Metab. 2004 May;17(5):793-800.

PMID:
15237716
16.
18.

Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.

Salvatori R, Hayashida CY, Aguiar-Oliveira MH, Phillips JA 3rd, 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.

PMID:
10084571
19.

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. doi: 10.4274/Jcrpe.1518.

20.

Diseases associated with growth hormone-releasing hormone receptor (GHRHR) mutations.

Martari M, Salvatori R.

Prog Mol Biol Transl Sci. 2009;88:57-84. doi: 10.1016/S1877-1173(09)88003-4. Review.

PMID:
20374725
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