155 related articles for article (PubMed ID: 10469016)
21. A Japanese family with autosomal dominant growth hormone deficiency.
Saitoh H; Fukushima T; Kamoda T; Tanae A; Kamijo T; Yamamoto M; Ogawa M; Hayashi Y; Ohmori S; Seo H
Eur J Pediatr; 1999 Aug; 158(8):624-7. PubMed ID: 10445339
[TBL] [Abstract][Full Text] [Related]
22. Isolated growth hormone deficiency in two siblings because of paternal mosaicism for a mutation in the GH1 gene.
Tsubahara M; Hayashi Y; Niijima S; Yamamoto M; Kamijo T; Murata Y; Haruna H; Okumura A; Shimizu T
Clin Endocrinol (Oxf); 2012 Mar; 76(3):420-4. PubMed ID: 21933221
[TBL] [Abstract][Full Text] [Related]
23. Variability of isolated autosomal dominant GH deficiency (IGHD II): impact of the P89L GH mutation on clinical follow-up and GH secretion.
Salemi S; Yousefi S; Baltensperger K; Robinson IC; Eblé A; Simon D; Czernichow P; Binder G; Sonnet E; Mullis PE
Eur J Endocrinol; 2005 Dec; 153(6):791-802. PubMed ID: 16322384
[TBL] [Abstract][Full Text] [Related]
24. A family case with autosomal-dominantly inherited pituitary dwarfism.
Tani N; Kaneko K; Momotsu T; Takasawa T; Ito S; Shibata A; Miki T; Tateishi H; Kumahara Y
Tohoku J Exp Med; 1987 Aug; 152(4):319-24. PubMed ID: 3660403
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II.
Takahashi I; Takahashi T; Komatsu M; Sato T; Takada G
Clin Genet; 2002 Mar; 61(3):222-5. PubMed ID: 12000366
[TBL] [Abstract][Full Text] [Related]
27. Isolated growth hormone deficiency: analysis of the growth hormone (GH)-releasing hormone gene and the GH gene cluster.
Mullis P; Patel M; Brickell PM; Brook CG
J Clin Endocrinol Metab; 1990 Jan; 70(1):187-91. PubMed ID: 1967179
[TBL] [Abstract][Full Text] [Related]
28. GH-1 gene splicing mutations: molecular basis of hereditary isolated growth hormone deficiency in children.
Fofanova OV; Evgrafov OV; Polyakov AV; Peterkova VA; Dedov II
Bull Exp Biol Med; 2006 Mar; 141(3):347-52. PubMed ID: 17073157
[TBL] [Abstract][Full Text] [Related]
29. An exon splice enhancer mutation causes autosomal dominant GH deficiency.
Moseley CT; Mullis PE; Prince MA; Phillips JA
J Clin Endocrinol Metab; 2002 Feb; 87(2):847-52. PubMed ID: 11836331
[TBL] [Abstract][Full Text] [Related]
30. Mechanisms responsible for dominant expression of human growth hormone gene mutations.
Binder G; Brown M; Parks JS
J Clin Endocrinol Metab; 1996 Nov; 81(11):4047-50. PubMed ID: 8923859
[TBL] [Abstract][Full Text] [Related]
31. A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency.
Katsumata N; Matsuo S; Sato N; Tanaka T
Growth Horm IGF Res; 2001 Dec; 11(6):378-83. PubMed ID: 11914025
[TBL] [Abstract][Full Text] [Related]
32. De novo mutations of the growth hormone gene: an important cause of congenital isolated growth hormone deficiency?
Massa GG; Binder G; Oostdijk W; Ranke MB; Wit JM
Eur J Pediatr; 1998 Apr; 157(4):272-5. PubMed ID: 9578959
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. 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]
35. Evolution of gonadotropin deficiency in a patient with type II autosomal dominant GH deficiency.
Turton JP; Buchanan CR; Robinson IC; Aylwin SJ; Dattani MT
Eur J Endocrinol; 2006 Dec; 155(6):793-9. PubMed ID: 17132747
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. Isolated autosomal dominant growth hormone deficiency: stimulating mutant GH-1 gene expression drives GH-1 splice-site selection, cell proliferation, and apoptosis.
Salemi S; Yousefi S; Lochmatter D; Eblé A; Deladoëy J; Robinson IC; Simon HU; Mullis PE
Endocrinology; 2007 Jan; 148(1):45-53. PubMed ID: 17038549
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. 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]
[Previous] [Next] [New Search]