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Items: 1 to 20 of 120

1.

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.

2.

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
3.

A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD).

Madeira JL, Jorge AA, Martin RM, Montenegro LR, Franca MM, Costalonga EF, Correa FA, Otto AP, Arnhold IJ, Freitas HS, Machado UF, Mendonca BB, Carvalho LR.

Eur J Endocrinol. 2016 Aug;175(2):K7-K15. doi: 10.1530/EJE-15-0149. Epub 2016 Jun 1.

4.

Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency.

Birla S, Khadgawat R, Jyotsna VP, Jain V, Garg MK, Bhalla AS, Sharma A.

Growth Horm IGF Res. 2016 Aug;29:50-56. doi: 10.1016/j.ghir.2016.04.001. Epub 2016 Apr 16.

PMID:
27114065
5.

Pharmacologic correction of dominant-negative GH1 deficiency causing mutations.

Poling JS, Phillips JA 3rd, Cogan JD, Hamid R.

Clin Transl Sci. 2011 Jun;4(3):175-9. doi: 10.1111/j.1752-8062.2011.00290.x.

6.

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
7.

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. Epub 2006 Oct 12.

PMID:
17038549
8.

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
9.

GH1 gene deletions and IGHD type 1A.

Cogan JD, Phillips JA 3rd.

Pediatr Endocrinol Rev. 2006 Aug;3 Suppl 3:480-8. Review. Erratum in: Pediatr Endocrinol Rev. 2007 Sep;5(1):470.

PMID:
17551470
10.

Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein.

Cogan JD, Phillips JA 3rd, Schenkman SS, Milner RD, Sakati N.

J Clin Endocrinol Metab. 1994 Nov;79(5):1261-5.

PMID:
7962317
11.

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
12.

A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency.

Fofanova OV, Evgrafov OV, Polyakov AV, Peterkova VA, Dedov II.

Hormones (Athens). 2006 Oct-Dec;5(4):288-94.

13.

Genetic polymorphisms in the locus control region and promoter of GH1 are related to serum IGF-I levels and height in patients with isolated growth hormone deficiency and healthy controls.

de Graaff LC, Argente J, van Meurs JB, Uitterlinden AG, Hokken-Koelega AC.

Horm Res Paediatr. 2010;73(1):25-34. doi: 10.1159/000271913. Epub 2010 Jan 15.

PMID:
20190537
14.

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. doi: 10.1111/j.1365-2265.2011.04224.x.

PMID:
21933221
16.

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.

17.

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
18.

Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene.

Fintini D, Salvatori R, Salemi S, Otten B, Ubertini G, Cambiaso P, Mullis PE.

Horm Res. 2006;65(2):76-82. Epub 2006 Jan 18.

PMID:
16424673
20.

Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus.

Keselman A, Scaglia PA, Rodríguez Prieto MS, Ballerini MG, Rodríguez ME, Ropelato MG, Bergadá I, Jasper HG, Domené HM.

Arq Bras Endocrinol Metabol. 2012 Nov;56(8):558-63.

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