230 related articles for article (PubMed ID: 17728167)
1. A novel growth hormone receptor gene deletion mutation in a patient with primary growth hormone insensitivity syndrome (Laron syndrome).
Yamamoto H; Kouhara H; Iida K; Chihara K; Kasayama S
Growth Horm IGF Res; 2008 Apr; 18(2):136-42. PubMed ID: 17728167
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. The growth hormone receptor gene mutation of a Japanese patient with Laron syndrome.
Otsuka T; Iwatani N; Kodama M; Sakakida M; Shichiri M; Jinno Y; Niikawa N; Miike T
Jpn J Hum Genet; 1997 Jun; 42(2):323-9. PubMed ID: 9290257
[TBL] [Abstract][Full Text] [Related]
8. The intellectual capacity of patients with Laron syndrome (LS) differs with various molecular defects of the growth hormone receptor gene. Correlation with CNS abnormalities.
Shevah O; Kornreich L; Galatzer A; Laron Z
Horm Metab Res; 2005 Dec; 37(12):757-60. PubMed ID: 16372230
[TBL] [Abstract][Full Text] [Related]
9. Molecular defects of the growth hormone receptor gene, including a new mutation, in Laron syndrome patients in Israel: relationship between defects and ethnic groups.
Shevah O; Rubinstein M; Laron Z
Isr Med Assoc J; 2004 Oct; 6(10):630-3. PubMed ID: 15473594
[TBL] [Abstract][Full Text] [Related]
10. Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene.
Hwa V; Camacho-Hübner C; Little BM; David A; Metherell LA; El-Khatib N; Savage MO; Rosenfeld RG
Horm Res; 2007; 68(5):218-24. PubMed ID: 17389811
[TBL] [Abstract][Full Text] [Related]
11. [New molecular mechanisms of growth hormone insensitivity].
Edouard T; Raynal P; Yart A; Conte-Auriol F; Salles JP; Tauber M
Arch Pediatr; 2008 Feb; 15(2):179-88. PubMed ID: 18207712
[TBL] [Abstract][Full Text] [Related]
12. [GH receptor gene mutations and growth failure].
Kaji H
Nihon Rinsho; 1998 Jul; 56(7):1830-5. PubMed ID: 9702061
[TBL] [Abstract][Full Text] [Related]
13. [Growth hormone receptor and dwarfism].
Postel-Vinay MC
Rev Prat; 1994 May; 44(10):1281-5. PubMed ID: 7939185
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Genetic analysis of the pedigrees and molecular defects of the GH-receptor gene in the Israeli cohort of patients with Laron syndrome.
Shevah O; Laron Z
Pediatr Endocrinol Rev; 2006 Aug; 3 Suppl 3():489-97. PubMed ID: 17551471
[TBL] [Abstract][Full Text] [Related]
17. Insulin-like growth factor-I treatment of children with Laron syndrome (primary growth hormone insensitivity).
Laron Z
Pediatr Endocrinol Rev; 2008 Mar; 5(3):766-71. PubMed ID: 18367997
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Do deficiencies in growth hormone and insulin-like growth factor-1 (IGF-1) shorten or prolong longevity?
Laron Z
Mech Ageing Dev; 2005 Feb; 126(2):305-7. PubMed ID: 15621211
[TBL] [Abstract][Full Text] [Related]
20. Novel compound heterozygous mutations of growth hormone (GH) receptor gene in a patient with GH insensitivity syndrome.
Kaji H; Nose O; Tajiri H; Takahashi Y; Iida K; Takahashi T; Okimura Y; Abe H; Chihara K
J Clin Endocrinol Metab; 1997 Nov; 82(11):3705-9. PubMed ID: 9360529
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
