122 related articles for article (PubMed ID: 10943739)
1. Prevalence of GH-1 gene deletion in patients with isolated growth hormone deficiency in Japan. GH Gene Study Group.
Ogawa M; Kamijo T; Igarashi Y; Nishi Y; Iwatani N; Kohno H; Koga J; Byun YJ
Endocr J; 2000 Apr; 47(2):157-62. PubMed ID: 10943739
[TBL] [Abstract][Full Text] [Related]
2. A case of isolated growth hormone (GH) deficiency with compound heterozygous abnormality at the GH-1 gene locus.
Nishi Y; Ogawa M; Kamijo T; Igarashi Y; Iwatani N; Kohno H; Masumura T; Byun Y; Koga J
J Pediatr Endocrinol Metab; 1997; 10(1):73-6. PubMed ID: 9364346
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Growth hormone (GH-1) gene deletions in children with isolated growth hormone deficiency (IGHD).
Desai MP; Mithbawkar SM; Upadhye PS; Shalia KK
Indian J Pediatr; 2012 Jul; 79(7):875-83. PubMed ID: 22016154
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Study of GH sensitivity in chilean patients with idiopathic short stature.
Sjoberg M; Salazar T; Espinosa C; Dagnino A; Avila A; Eggers M; Cassorla F; Carvallo P; Mericq MV
J Clin Endocrinol Metab; 2001 Sep; 86(9):4375-81. PubMed ID: 11549678
[TBL] [Abstract][Full Text] [Related]
7. Molecular diagnosis and endocrine evaluation of a patient with a homozygous 7.0 kb deletion of the growth hormone (GH) gene cluster: response to biosynthetic GH therapy.
Pérez Jurado LA; Argente J; Barrios V; Pozo J; Muñoz MT; Hernández M; Francke U
J Pediatr Endocrinol Metab; 1997; 10(2):185-90. PubMed ID: 9364351
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Detection of growth hormone gene defects by dideoxy fingerprinting (ddF).
Miyata I; Cogan JD; Prince MA; Kamijo T; Ogawa M; Phillips JA
Endocr J; 1997 Feb; 44(1):149-54. PubMed ID: 9152628
[TBL] [Abstract][Full Text] [Related]
11. Pathogenic and likely pathogenic genetic alterations and polymorphisms in growth hormone gene (GH1) and growth hormone releasing hormone receptor gene (GHRHR) in a cohort of isolated growth hormone deficient (IGHD) children in Sri Lanka.
Sundralingam T; Tennekoon KH; de Silva S; De Silva S; Hewage AS
Growth Horm IGF Res; 2017 Oct; 36():22-29. PubMed ID: 28910730
[TBL] [Abstract][Full Text] [Related]
12. A case with isolated growth hormone deficiency caused by compound heterozygous mutations in GH-1: a novel missense mutation in the initiation codon and a 7.6kb deletion.
Hayashi Y; Kamijo T; Yamamoto M; Murata Y; Phillips JA; Ogawa M; Seo H
Growth Horm IGF Res; 2007 Jun; 17(3):249-53. PubMed ID: 17360216
[TBL] [Abstract][Full Text] [Related]
13. Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency.
Wagner JK; Eblé A; Hindmarsh PC; Mullis PE
Pediatr Res; 1998 Jan; 43(1):105-10. PubMed ID: 9432120
[TBL] [Abstract][Full Text] [Related]
14. Genetic screening of a Dutch population with isolated GH deficiency (IGHD).
de Graaff LC; Argente J; Veenma DC; Herrebout MA; Friesema EC; Uitterlinden AG; Drent ML; Campos-Barros A; Hokken-Koelega AC
Clin Endocrinol (Oxf); 2009 May; 70(5):742-50. PubMed ID: 18785993
[TBL] [Abstract][Full Text] [Related]
15. 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; Prince M; Levine MA
Clin Endocrinol (Oxf); 2001 May; 54(5):681-7. PubMed ID: 11380500
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the
Haris B; Mohammed I; Ismail Umlai UK; Shirodkar D; Hussain K
J Clin Res Pediatr Endocrinol; 2024 May; 16(2):229-234. PubMed ID: 36728277
[TBL] [Abstract][Full Text] [Related]
19. IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion.
Miletta MC; Eblé A; Janner M; Parween S; Pandey AV; Flück CE; Mullis PE
J Clin Endocrinol Metab; 2015 Dec; 100(12):E1575-83. PubMed ID: 26485222
[TBL] [Abstract][Full Text] [Related]
20. GH1 gene deletions and IGHD type 1A.
Cogan JD; Phillips JA
Pediatr Endocrinol Rev; 2006 Aug; 3 Suppl 3():480-8. PubMed ID: 17551470
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
