155 related articles for article (PubMed ID: 10469016)
1. Mutations in intron 3 of GH-1 gene associated with isolated GH deficiency type II in three Japanese families.
Kamijo T; Hayashi Y; Shimatsu A; Kinoshita E; Yoshimoto M; Ogawa M; Seo H
Clin Endocrinol (Oxf); 1999 Sep; 51(3):355-60. PubMed ID: 10469016
[TBL] [Abstract][Full Text] [Related]
2. A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population.
Fofanova OV; Evgrafov OV; Polyakov AV; Poltaraus AB; Peterkova VA; Dedov II
J Clin Endocrinol Metab; 2003 Feb; 88(2):820-6. PubMed ID: 12574219
[TBL] [Abstract][Full Text] [Related]
3. Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis.
Binder G; Ranke MB
J Clin Endocrinol Metab; 1995 Apr; 80(4):1247-52. PubMed ID: 7714096
[TBL] [Abstract][Full Text] [Related]
4. Genetic and molecular analysis of familial isolated growth hormone deficiency.
Ruiz-Pacheco R; Chatelain P; Sizonenko PC; Bost M; Garandau P; Sultan C
Hum Genet; 1993 Oct; 92(3):273-81. PubMed ID: 8104861
[TBL] [Abstract][Full Text] [Related]
5. Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein.
Cogan JD; Phillips JA; Schenkman SS; Milner RD; Sakati N
J Clin Endocrinol Metab; 1994 Nov; 79(5):1261-5. PubMed ID: 7962317
[TBL] [Abstract][Full Text] [Related]
6. A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study.
Cogan JD; Ramel B; Lehto M; Phillips J; Prince M; Blizzard RM; de Ravel TJ; Brammert M; Groop L
J Clin Endocrinol Metab; 1995 Dec; 80(12):3591-5. PubMed ID: 8530604
[TBL] [Abstract][Full Text] [Related]
7. Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort.
Lido AC; França MM; Correa FA; Otto AP; Carvalho LR; Quedas EP; Nishi MY; Mendonca BB; Arnhold IJ; Jorge AA
Growth Horm IGF Res; 2014 Oct; 24(5):180-6. PubMed ID: 25116472
[TBL] [Abstract][Full Text] [Related]
8. Molecular basis of familial growth hormone deficiency.
Pérez Jurado LA; Argente J
Horm Res; 1994; 42(4-5):189-97. PubMed ID: 7868072
[TBL] [Abstract][Full Text] [Related]
9. Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene.
Fintini D; Salvatori R; Salemi S; Otten B; Ubertini G; Cambiaso P; Mullis PE
Horm Res; 2006; 65(2):76-82. PubMed ID: 16424673
[TBL] [Abstract][Full Text] [Related]
10. A novel mutation at the donor splice site of intron 3 of the GH-I gene in a patient with isolated growth hormone deficiency.
Hayashi Y; Kamijo T; Yamamoto M; Ohmori S; Phillips JA; Ogawa M; Igarashi Y; Seo H
Growth Horm IGF Res; 1999 Dec; 9(6):434-7. PubMed ID: 10629163
[TBL] [Abstract][Full Text] [Related]
11. Hereditary isolated growth hormone deficiency caused by GH1 gene mutations in Japanese patients.
Kamijo T; Hayashi Y; Seo H; Ogawa M
Growth Horm IGF Res; 1999 Jun; 9 Suppl B():31-4; discussion 35-6. PubMed ID: 10549303
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Inhibition of growth hormone (GH) secretion by a mutant GH-I gene product in neuroendocrine cells containing secretory granules: an implication for isolated GH deficiency inherited in an autosomal dominant manner.
Hayashi Y; Yamamoto M; Ohmori S; Kamijo T; Ogawa M; Seo H
J Clin Endocrinol Metab; 1999 Jun; 84(6):2134-9. PubMed ID: 10372722
[TBL] [Abstract][Full Text] [Related]
15. Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency.
Cogan JD; Phillips JA; Sakati N; Frisch H; Schober E; Milner RD
J Clin Endocrinol Metab; 1993 May; 76(5):1224-8. PubMed ID: 8496314
[TBL] [Abstract][Full Text] [Related]
16. Two different 5' splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency.
Missarelli C; Herrera L; Mericq V; Carvallo P
Hum Genet; 1997 Nov; 101(1):113-7. PubMed ID: 9385381
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II.
Kempers MJ; van der Crabben SN; de Vroede M; Alfen-van der Velden J; Netea-Maier RT; Duim RA; Otten BJ; Losekoot M; Wit JM
Horm Res Paediatr; 2013; 80(6):390-6. PubMed ID: 24280736
[TBL] [Abstract][Full Text] [Related]
19. A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency.
Fofanova OV; Evgrafov OV; Polyakov AV; Peterkova VA; Dedov II
Hormones (Athens); 2006; 5(4):288-94. PubMed ID: 17178704
[TBL] [Abstract][Full Text] [Related]
20. Isolated GH deficiency with dominant inheritance: new mutations, new insights.
Binder G; Keller E; Mix M; Massa GG; Stokvis-Brantsma WH; Wit JM; Ranke MB
J Clin Endocrinol Metab; 2001 Aug; 86(8):3877-81. PubMed ID: 11502827
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
