269 related articles for article (PubMed ID: 27114065)
1. 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. PubMed ID: 27114065
[TBL] [Abstract][Full Text] [Related]
2. Pathogenic and likely pathogenic genetic alterations and polymorphisms in growth hormone gene (GH1) and growth hormone releasing hormone receptor gene (GHRHR) in a cohort of isolated growth hormone deficient (IGHD) children in Sri Lanka.
Sundralingam T; Tennekoon KH; de Silva S; De Silva S; Hewage AS
Growth Horm IGF Res; 2017 Oct; 36():22-29. PubMed ID: 28910730
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 19567534
[TBL] [Abstract][Full Text] [Related]
4. Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Cohen E; Belkacem S; Fedala S; Collot N; Khallouf E; Dastot F; Polak M; Duquesnoy P; Brioude F; Rose S; Viot G; Soleyan A; Carel JC; Sobrier ML; Chanson P; Gatelais F; Heinrichs C; Kaffel N; Coutant R; Savaş Erdeve Ş; Kurnaz E; Aycan Z; Thalassinos C; Lyonnet S; Şıklar Z; Berberoglu M; Brachet C; Amselem S; Legendre M
Hum Mutat; 2019 Nov; 40(11):2033-2043. PubMed ID: 31231873
[TBL] [Abstract][Full Text] [Related]
5. Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an emphasis on regional genetic diversity.
Kale S; Gada JV; Jadhav S; Lila AR; Sarathi V; Budyal S; Patt H; Goroshi MR; Thadani PM; Arya S; Kamble AA; Patil VA; Acharya S; Sankhe S; Shivane V; Raghavan V; Bandgar TR; Shah NS
Pituitary; 2020 Dec; 23(6):701-715. PubMed ID: 32894409
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 25153028
[TBL] [Abstract][Full Text] [Related]
7. Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency.
Birla S; Khadgawat R; Jyotsna VP; Jain V; Garg MK; Bhalla AS; Sharma A
Horm Metab Res; 2016 Dec; 48(12):822-827. PubMed ID: 27756091
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 18785993
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 21816782
[TBL] [Abstract][Full Text] [Related]
10. Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).
Alatzoglou KS; Dattani MT
Indian J Pediatr; 2012 Jan; 79(1):99-106. PubMed ID: 22139958
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 25541890
[TBL] [Abstract][Full Text] [Related]
12. Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement.
Rohayem J; Drechsel H; Tittel B; Hahn G; Pfaeffle R; Huebner A
Horm Res Paediatr; 2016; 86(2):106-116. PubMed ID: 27487097
[TBL] [Abstract][Full Text] [Related]
13. Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency.
Gregory LC; Alatzoglou KS; McCabe MJ; Hindmarsh PC; Saldanha JW; Romano N; Le Tissier P; Dattani MT
J Clin Endocrinol Metab; 2016 Oct; 101(10):3608-3615. PubMed ID: 27501283
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 25226297
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 22489751
[TBL] [Abstract][Full Text] [Related]
16. 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; 14(5-6):286-92. PubMed ID: 18297129
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 23052699
[TBL] [Abstract][Full Text] [Related]
18. 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; 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. PubMed ID: 11232012
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 27252485
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 19622623
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]