170 related articles for article (PubMed ID: 19733620)
1. 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; 313(1-2):50-6. PubMed ID: 19733620
[TBL] [Abstract][Full Text] [Related]
2. 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; 14(5-6):286-92. PubMed ID: 18297129
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 23052699
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency.
Birla S; Khadgawat R; Jyotsna VP; Jain V; Garg MK; Bhalla AS; Sharma A
Growth Horm IGF Res; 2016 Aug; 29():50-56. PubMed ID: 27114065
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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. PubMed ID: 9814493
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 10549302
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 23602557
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height.
Camats N; Fernández-Cancio M; Carrascosa A; Andaluz P; Albisu MÁ; Clemente M; Gussinyé M; Yeste D; Audí L
Clin Endocrinol (Oxf); 2012 Oct; 77(4):564-74. PubMed ID: 22489751
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Cohen E; Belkacem S; Fedala S; Collot N; Khallouf E; Dastot F; Polak M; Duquesnoy P; Brioude F; Rose S; Viot G; Soleyan A; Carel JC; Sobrier ML; Chanson P; Gatelais F; Heinrichs C; Kaffel N; Coutant R; Savaş Erdeve Ş; Kurnaz E; Aycan Z; Thalassinos C; Lyonnet S; Şıklar Z; Berberoglu M; Brachet C; Amselem S; Legendre M
Hum Mutat; 2019 Nov; 40(11):2033-2043. PubMed ID: 31231873
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Functional GHRH receptor carboxyl terminal isoforms in normal and dwarf (dw) rats.
Zeitler P; Stevens P; Siriwardana G
J Mol Endocrinol; 1998 Dec; 21(3):363-71. PubMed ID: 9845677
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
