Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 126

1.

Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH.

Petkovic V, Miletta MC, Boot AM, Losekoot M, Flück CE, Pandey AV, Eblé A, Wit JM, Mullis PE.

Eur J Endocrinol. 2013 Feb 15;168(3):K35-43. doi: 10.1530/EJE-12-0847. Print 2013 Mar.

2.

A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome.

Petkovic V, Eblé A, Pandey AV, Betta M, Mella P, Flück CE, Buzi F, Mullis PE.

Growth Horm IGF Res. 2011 Jun;21(3):160-6. doi: 10.1016/j.ghir.2011.04.002. Epub 2011 May 4.

PMID:
21546299
3.

Short stature caused by a biologically inactive mutant growth hormone (GH-C53S).

Besson A, Salemi S, Deladoëy J, Vuissoz JM, Eblé A, Bidlingmaier M, Bürgi S, Honegger U, Flück C, Mullis PE.

J Clin Endocrinol Metab. 2005 May;90(5):2493-9. Epub 2005 Feb 15.

PMID:
15713716
4.

Biologically inactive growth hormone caused by an amino acid substitution.

Takahashi Y, Shirono H, Arisaka O, Takahashi K, Yagi T, Koga J, Kaji H, Okimura Y, Abe H, Tanaka T, Chihara K.

J Clin Invest. 1997 Sep 1;100(5):1159-65.

5.

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. doi: 10.1210/jc.2015-3265. Epub 2015 Oct 20.

PMID:
26485222
6.

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; German KIMS Board; German KIMS Pharmacogenetics Study Group.

Growth Horm IGF Res. 2007 Aug;17(4):307-14. Epub 2007 Apr 25.

PMID:
17462934
7.

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. Epub 2007 Apr 3.

PMID:
17405847
8.

Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature.

Petkovic V, Besson A, Thevis M, Lochmatter D, Eblé A, Flück CE, Mullis PE.

J Clin Endocrinol Metab. 2007 Aug;92(8):2893-901. Epub 2007 May 22.

PMID:
17519310
9.

Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action.

Petkovic V, Godi M, Pandey AV, Lochmatter D, Buchanan CR, Dattani MT, Eblé A, Flück CE, Mullis PE.

J Clin Endocrinol Metab. 2010 Feb;95(2):731-9. doi: 10.1210/jc.2009-1247. Epub 2009 Dec 1.

PMID:
19952226
10.

Short stature caused by a mutant growth hormone with an antagonistic effect.

Takahashi Y, Kaji H, Okimura Y, Goji K, Abe H, Chihara K.

Endocr J. 1996 Oct;43 Suppl:S27-32.

11.

Impact of the exon 3-deleted growth hormone (GH) receptor polymorphism on baseline height and the growth response to recombinant human GH therapy in GH-deficient (GHD) and non-GHD children with short stature: a systematic review and meta-analysis.

Wassenaar MJ, Dekkers OM, Pereira AM, Wit JM, Smit JW, Biermasz NR, Romijn JA.

J Clin Endocrinol Metab. 2009 Oct;94(10):3721-30. doi: 10.1210/jc.2009-0425. Epub 2009 Jul 7. Review.

PMID:
19584188
12.

GH mutant (R77C) in a pedigree presenting with the delay of growth and pubertal development: structural analysis of the mutant and evaluation of the biological activity.

Petkovic V, Thevis M, Lochmatter D, Besson A, Eblé A, Flück CE, Mullis PE.

Eur J Endocrinol. 2007 Aug;157 Suppl 1:S67-74.

13.

Short stature by mutant growth hormones.

Takahashi Y, Chihara K.

Growth Horm IGF Res. 1999 Jun;9 Suppl B:37-40; discussion 40-1.

PMID:
10549304
14.

Partial growth-hormone insensitivity: the role of growth-hormone receptor mutations in idiopathic short stature.

Goddard AD, Dowd P, Chernausek S, Geffner M, Gertner J, Hintz R, Hopwood N, Kaplan S, Plotnick L, Rogol A, Rosenfield R, Saenger P, Mauras N, Hershkopf R, Angulo M, Attie K.

J Pediatr. 1997 Jul;131(1 Pt 2):S51-5.

PMID:
9255229
15.

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. doi: 10.1111/j.1365-2265.2011.04304.x.

PMID:
22117696
16.

Heterozygous GHR gene mutation in a child with idiopathic short stature.

Pagani S, Petkovic V, Messini B, Meazza C, Bozzola E, Mullis PE, Bozzola M.

J Pediatr Endocrinol Metab. 2014 Mar;27(3-4):329-34. doi: 10.1515/jpem-2013-0359.

17.
18.

The C422F mutation of the growth hormone receptor gene is not responsible for short stature.

Iida K, Takahashi Y, Kaji H, Onodera N, Takahashi MO, Okimura Y, Abe H, Chihara K.

J Clin Endocrinol Metab. 1999 Nov;84(11):4214-9.

PMID:
10566675
19.

The exon 3-deleted/full-length growth hormone receptor polymorphism and response to growth hormone therapy in growth hormone deficiency and Turner syndrome: a multicenter study.

Baş F, Darendeliler F, Aycan Z, Çetinkaya E, Berberoğlu M, Sıklar Z, Öcal G, Timirci Ö, Çetinkaya S, Darcan Ş, Gökşen Şimşek D, Bideci A, Cinaz P, Böber E, Demir K, Bereket A, Turan S, Atabek ME, Tütüncüler F, Isbir T, Bozkurt N, Kabataş Eryılmaz S, Uzunhan O, Küçükemre Aydın B, Bundak R.

Horm Res Paediatr. 2012;77(2):85-93. doi: 10.1159/000335172. Epub 2012 Mar 23.

PMID:
22456308
20.

Effect of different growth hormone (GH) mutants on the regulation of GH-receptor gene transcription in a human hepatoma cell line.

Deladoëy J, Gex G, Vuissoz JM, Strasburger CJ, Wajnrajch MP, Mullis PE.

Eur J Endocrinol. 2002 Apr;146(4):573-81.

Supplemental Content

Support Center