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Items: 1 to 20 of 101

1.

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
2.

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
3.

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
4.

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
5.

Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height.

Camats N, Fernández-Cancio M, Carrascosa A, Andaluz P, Albisu MÁ, Clemente M, Gussinyé M, Yeste D, Audí L.

Clin Endocrinol (Oxf). 2012 Oct;77(4):564-74. doi: 10.1111/j.1365-2265.2012.04410.x.

PMID:
22489751
6.

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
7.

The molecular genetics of growth hormone deficiency.

Procter AM, Phillips JA 3rd, Cooper DN.

Hum Genet. 1998 Sep;103(3):255-72. Review.

PMID:
9799079
8.

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
9.

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
10.

Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism.

Wang Q, Diao Y, Xu Z, Li X, Luo XP, Xu H, Ouyang P, Liu M, Hu Z, Wang QK, Liu JY.

Mol Cell Endocrinol. 2009 Dec 10;313(1-2):50-6. doi: 10.1016/j.mce.2009.08.021. Epub 2009 Sep 4. Erratum in: Mol Cell Endocrinol. 2010 Apr 12;317(1-2):168-9.

PMID:
19733620
11.

Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.

Hilal L, Hajaji Y, Vie-Luton MP, Ajaltouni Z, Benazzouz B, Chana M, Chraïbi A, Kadiri A, Amselem S, Sobrier ML.

Mol Med. 2008 May-Jun;14(5-6):286-92. doi: 10.2119/2007-00128.Hilal.

12.

Molecular and clinical aspects of GHRH receptor mutations.

Corazzini V, Salvatori R.

Endocr Dev. 2013;24:106-17. doi: 10.1159/000342575. Epub 2013 Feb 1. Review.

PMID:
23392099
13.

Autosomal Dominant Growth Hormone Deficiency (Type II).

Alatzoglou KS, Kular D, Dattani MT.

Pediatr Endocrinol Rev. 2015 Jun;12(4):347-55. Review. Erratum in: Pediatr Endocrinol Rev. 2015 Dec;13(2):498.

PMID:
26182479
14.

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.

15.

Mutations in the growth hormone releasing hormone receptor: a new form of dwarfism in humans.

Baumann G.

Growth Horm IGF Res. 1999 Jun;9 Suppl B:24-9; discussion 29-30. Review.

PMID:
10549302
16.

Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh.

Maheshwari HG, Silverman BL, Dupuis J, Baumann G.

J Clin Endocrinol Metab. 1998 Nov;83(11):4065-74.

PMID:
9814493
17.

Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.

Soneda A, Adachi M, Muroya K, Asakura Y, Takagi M, Hasegawa T, Inoue H, Itakura M.

Growth Horm IGF Res. 2013 Aug;23(4):89-97. doi: 10.1016/j.ghir.2013.03.003. Epub 2013 Apr 18.

PMID:
23602557
18.

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.

19.

Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature.

Inoue H, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K; Japan Growth Genome Consortium..

Clin Endocrinol (Oxf). 2011 Feb;74(2):223-33. doi: 10.1111/j.1365-2265.2010.03911.x.

PMID:
21044116
20.

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

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