258 related articles for article (PubMed ID: 18404972)
1. 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]
2. 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]
3. Novel growth hormone receptor gene mutation in a patient with Laron syndrome.
Arman A; Yüksel B; Coker A; Sarioz O; Temiz F; Topaloglu AK
J Pediatr Endocrinol Metab; 2010 Apr; 23(4):407-14. PubMed ID: 20583548
[TBL] [Abstract][Full Text] [Related]
4. A novel exonic GHR splicing mutation (c.784G > C) in a patient with classical growth hormone insensitivity syndrome.
Akıncı A; Rosenfeld RG; Hwa V
Horm Res Paediatr; 2013; 79(1):32-8. PubMed ID: 23006617
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform.
Pantel J; Grulich-Henn J; Bettendorf M; Strasburger CJ; Heinrich U; Amselem S
J Clin Endocrinol Metab; 2003 Apr; 88(4):1705-10. PubMed ID: 12679461
[TBL] [Abstract][Full Text] [Related]
9. Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome.
Hui HN; Metherell LA; Ng KL; Savage MO; Camacho-Hübner C; Clark AJ
J Pediatr Endocrinol Metab; 2005 Feb; 18(2):209-13. PubMed ID: 15751611
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity.
David A; Miraki-Moud F; Shaw NJ; Savage MO; Clark AJ; Metherell LA
Eur J Endocrinol; 2010 Jan; 162(1):37-42. PubMed ID: 19812236
[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. Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.
Sobrier ML; Dastot F; Duquesnoy P; Kandemir N; Yordam N; Goossens M; Amselem S
J Clin Endocrinol Metab; 1997 Feb; 82(2):435-7. PubMed ID: 9024232
[TBL] [Abstract][Full Text] [Related]
14. [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]
15. Clinical features and growth hormone receptor gene mutations of patients with Laron syndrome from a Chinese family.
Ying YQ; Wei H; Cao LZ; Lu JJ; Luo XP
Zhongguo Dang Dai Er Ke Za Zhi; 2007 Aug; 9(4):335-8. PubMed ID: 17706034
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.
Gastier JM; Berg MA; Vesterhus P; Reiter EO; Francke U
Hum Mutat; 2000 Oct; 16(4):323-33. PubMed ID: 11013443
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.
Moia S; Tessaris D; Einaudi S; de Sanctis L; Bona G; Bellone S; Prodam F
Ital J Pediatr; 2017 Oct; 43(1):94. PubMed ID: 29025428
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]