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Items: 1 to 20 of 121

1.

Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.

Alatzoglou KS, Turton JP, Kelberman D, Clayton PE, Mehta A, Buchanan C, Aylwin S, Crowne EC, Christesen HT, Hertel NT, Trainer PJ, Savage MO, Raza J, Banerjee K, Sinha SK, Ten S, Mushtaq T, Brauner R, Cheetham TD, Hindmarsh PC, Mullis PE, Dattani MT.

J Clin Endocrinol Metab. 2009 Sep;94(9):3191-9. doi: 10.1210/jc.2008-2783. Epub 2009 Jun 30.

PMID:
19567534
2.

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. doi: 10.1111/j.1365-2265.2008.03414.x. Epub 2008 Sep 10.

PMID:
18785993
3.

A novel gross indel in the growth hormone releasing hormone receptor gene of Indian IGHD patients.

Kale S, Budyal S, Kasaliwal R, Shivane V, Raghavan V, Lila A, Bandgar T, Shah N.

Growth Horm IGF Res. 2014 Dec;24(6):227-32. doi: 10.1016/j.ghir.2014.07.003. Epub 2014 Aug 7.

PMID:
25153028
4.

Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).

Alatzoglou KS, Dattani MT.

Indian J Pediatr. 2012 Jan;79(1):99-106. doi: 10.1007/s12098-011-0614-7. Epub 2011 Dec 3. Review.

PMID:
22139958
5.

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 3rd, 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.

PMID:
11232012
6.

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. doi: 10.1210/jc.2011-1031. Epub 2011 Aug 3. Erratum in: J Clin Endocrinol Metab. 2012 Jan;97(1):307.

PMID:
21816782
7.

Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia.

Demirbilek H, Tahir S, Baran RT, Sherif M, Shah P, Ozbek MN, Hatipoglu N, Baran A, Arya VB, Hussain K.

J Clin Endocrinol Metab. 2014 Dec;99(12):E2730-4. doi: 10.1210/jc.2014-2696.

PMID:
25226297
8.

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. doi: 10.1159/000355403. Epub 2013 Nov 23.

PMID:
24280736
9.

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.

PMID:
16355809
10.

A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.

Godi M, Mellone S, Petri A, Arrigo T, Bardelli C, Corrado L, Bellone S, Prodam F, Momigliano-Richiardi P, Bona G, Giordano M.

J Clin Endocrinol Metab. 2009 Oct;94(10):3939-47. doi: 10.1210/jc.2009-0833. Epub 2009 Jul 21.

PMID:
19622623
11.

Two siblings with isolated GH deficiency due to loss-of-function mutation in the GHRHR gene: successful treatment with growth hormone despite late admission and severe growth retardation.

Sıklar Z, Berberoğlu M, Legendre M, Amselem S, Evliyaoğlu O, Hacıhamdioğlu B, Savaş Erdeve S, Oçal G.

J Clin Res Pediatr Endocrinol. 2010;2(4):164-7. doi: 10.4274/jcrpe.v2i4.164. Epub 2010 Nov 6.

12.

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. doi: 10.1016/j.ghir.2014.07.001. Epub 2014 Jul 30.

PMID:
25116472
13.

Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency.

França MM, Jorge AA, Alatzoglou KS, Carvalho LR, Mendonca BB, Audi L, Carrascosa A, Dattani MT, Arnhold IJ.

J Clin Endocrinol Metab. 2011 Sep;96(9):E1457-60. doi: 10.1210/jc.2011-0170. Epub 2011 Jun 29.

PMID:
21715545
14.

A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency.

Carakushansky M, Whatmore AJ, Clayton PE, Shalet SM, Gleeson HK, Price DA, Levine MA, Salvatori R.

Eur J Endocrinol. 2003 Jan;148(1):25-30.

15.

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.

PMID:
15049962
16.

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. doi: 10.4274/Jcrpe.1518.

17.

Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.

Osorio MG, Marui S, Jorge AA, Latronico AC, Lo LS, Leite CC, Estefan V, Mendonca BB, Arnhold IJ.

J Clin Endocrinol Metab. 2002 Nov;87(11):5076-84.

PMID:
12414875
18.

Genetic causes and treatment of isolated growth hormone deficiency-an update.

Alatzoglou KS, Dattani MT.

Nat Rev Endocrinol. 2010 Oct;6(10):562-76. doi: 10.1038/nrendo.2010.147. Review.

PMID:
20852587
19.

A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.

Hamid R, Phillips JA 3rd, Holladay C, Cogan JD, Austin ED, Backeljauw PF, Travers SH, Patton JG.

J Clin Endocrinol Metab. 2009 Dec;94(12):4728-34. doi: 10.1210/jc.2009-0746. Epub 2009 Oct 16.

20.

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. doi: 10.1159/000342760. Epub 2012 Oct 10.

PMID:
23052699
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