176 related articles for article (PubMed ID: 18073295)
1. Growth hormone (GH) insensitivity and insulin-like growth factor-I deficiency in Inuit subjects and an Ecuadorian cohort: functional studies of two codon 180 GH receptor gene mutations.
Fang P; Girgis R; Little BM; Pratt KL; Guevara-Aguirre J; Hwa V; Rosenfeld RG
J Clin Endocrinol Metab; 2008 Mar; 93(3):1030-7. PubMed ID: 18073295
[TBL] [Abstract][Full Text] [Related]
2. Primary growth hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: genetic and functional studies of simple and compound heterozygous states.
Fang P; Riedl S; Amselem S; Pratt KL; Little BM; Haeusler G; Hwa V; Frisch H; Rosenfeld RG
J Clin Endocrinol Metab; 2007 Jun; 92(6):2223-31. PubMed ID: 17405847
[TBL] [Abstract][Full Text] [Related]
3. Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay.
Gorbenko del Blanco D; de Graaff LC; Visser TJ; Hokken-Koelega AC
Clin Endocrinol (Oxf); 2012 May; 76(5):706-12. PubMed ID: 22117696
[TBL] [Abstract][Full Text] [Related]
4. The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.
Derr MA; Aisenberg J; Fang P; Tenenbaum-Rakover Y; Rosenfeld RG; Hwa V
J Clin Endocrinol Metab; 2011 Nov; 96(11):E1896-904. PubMed ID: 21900382
[TBL] [Abstract][Full Text] [Related]
5. A half-century of studies of growth hormone insensitivity/Laron syndrome: A historical perspective.
Rosenbloom AL
Growth Horm IGF Res; 2016 Jun; 28():46-50. PubMed ID: 26276451
[TBL] [Abstract][Full Text] [Related]
6. Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature.
Guevara-Aguirre J; Rosenbloom AL; Guevara-Aguirre M; Yariz K; Saavedra J; Baumbach L; Shuster J
Growth Horm IGF Res; 2007 Jun; 17(3):261-4. PubMed ID: 17350302
[TBL] [Abstract][Full Text] [Related]
7. Primary GH insensitivity '(Laron syndrome) caused by a novel 4 kb deletion encompassing exon 5 of the GH receptor gene: effect of intermittent long-term treatment with recombinant human IGF-I.
Besson A; Salemi S; Eblé A; Joncourt F; Gallati S; Jorge AA; Mullis PE
Eur J Endocrinol; 2004 May; 150(5):635-42. PubMed ID: 15132718
[TBL] [Abstract][Full Text] [Related]
8. Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism.
Arman A; Ozon A; Isguven PS; Coker A; Peker I; Yordam N
J Pediatr Endocrinol Metab; 2008 Jan; 21(1):47-58. PubMed ID: 18404972
[TBL] [Abstract][Full Text] [Related]
9. A novel mutation of exon 7 in growth hormone receptor mRNA in a patient with growth hormone insensitivity syndrome and neurofibromatosis type I.
Kang JH; Kim OS; Kim JH; Lee SK; Park YJ; Baik HW
Int J Mol Med; 2012 Sep; 30(3):713-7. PubMed ID: 22751808
[TBL] [Abstract][Full Text] [Related]
10. A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome.
Feigerlova E; Swinyard M; Derr MA; Farnsworth J; Andrew SF; Rosenfeld RG; Hwa V
Horm Res Paediatr; 2013; 80(6):397-405. PubMed ID: 24296660
[TBL] [Abstract][Full Text] [Related]
11. The GH receptor and GH insensitivity.
Ross RJ
Growth Horm IGF Res; 1999 Jun; 9 Suppl B():42-5; discussion 45-6. PubMed ID: 10549305
[TBL] [Abstract][Full Text] [Related]
12. Identification of a novel mutation in the human growth hormone receptor gene (GHR) in a patient with Laron syndrome.
Gennero I; Edouard T; Rashad M; Bieth E; Conte-Aurio F; Marin F; Tauber M; Salles JP; El Kholy M
J Pediatr Endocrinol Metab; 2007 Jul; 20(7):825-31. PubMed ID: 17849745
[TBL] [Abstract][Full Text] [Related]
13. Short stature and decreased insulin-like growth factor I (IGF-I)/growth hormone (GH)-ratio in an adult GH-deficient patient pointing to additional partial GH insensitivity due to a R179C mutation of the growth hormone receptor.
Meyer S; Ipek M; Keth A; Minnemann T; von Mach MA; Weise A; Ittner JR; Nawroth PP; Plöckinger U; Stalla GK; Tuschy U; Weber MM; Kann PH; ;
Growth Horm IGF Res; 2007 Aug; 17(4):307-14. PubMed ID: 17462934
[TBL] [Abstract][Full Text] [Related]
14. Growth Hormone Receptor Mutations Related to Individual Dwarfism.
Lin S; Li C; Li C; Zhang X
Int J Mol Sci; 2018 May; 19(5):. PubMed ID: 29748515
[TBL] [Abstract][Full Text] [Related]
15. Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after Box1, resulting in isolated failure of STAT 5 signal transduction.
Milward A; Metherell L; Maamra M; Barahona MJ; Wilkinson IR; Camacho-Hübner C; Savage MO; Bidlingmaier M; Clark AJ; Ross RJ; Webb SM
J Clin Endocrinol Metab; 2004 Mar; 89(3):1259-66. PubMed ID: 15001620
[TBL] [Abstract][Full Text] [Related]
16. A novel C-terminal growth hormone receptor (GHR) mutation results in impaired GHR-STAT5 but normal STAT-3 signaling.
Tiulpakov A; Rubtsov P; Dedov I; Peterkova V; Bezlepkina O; Chrousos GP; Hochberg Z
J Clin Endocrinol Metab; 2005 Jan; 90(1):542-7. PubMed ID: 15536163
[TBL] [Abstract][Full Text] [Related]
17. [Founder effect of E180splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity].
Jorge AA; Menezes Filho HC; Lins TS; Guedes DR; Damiani D; Setian N; Arnhold IJ; Mendonça BB
Arq Bras Endocrinol Metabol; 2005 Jun; 49(3):384-9. PubMed ID: 16543992
[TBL] [Abstract][Full Text] [Related]
18. Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain.
Iida K; Takahashi Y; Kaji H; Nose O; Okimura Y; Abe H; Chihara K
J Clin Endocrinol Metab; 1998 Feb; 83(2):531-7. PubMed ID: 9467570
[TBL] [Abstract][Full Text] [Related]
19. The D152H mutation found in growth hormone insensitivity syndrome impairs expression and function of human growth hormone receptor but is silent in rat receptor.
Esposito N; Wojcik J; Chomilier J; Martini JF; Kelly PA; Finidori J; Postel-Vinay MC
J Mol Endocrinol; 1998 Aug; 21(1):61-72. PubMed ID: 9723864
[TBL] [Abstract][Full Text] [Related]
20. Growth hormone receptor gene mutations in two Italian patients with Laron Syndrome.
Fassone L; Corneli G; Bellone S; Camacho-Hübner C; Aimaretti G; Cappa M; Ubertini G; Bona G
J Endocrinol Invest; 2007 May; 30(5):417-20. PubMed ID: 17598975
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]