Search details
1.
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.
Genet Med
; 20(7): 728-736, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29261175
2.
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes.
J Hum Genet
; 62(8): 755-762, 2017 Aug.
Article
in English
| MEDLINE | ID: mdl-28356564
3.
Clinical and biochemical consequences of an intragenic growth hormone receptor (GHR) deletion in a large Chinese pedigree.
Clin Endocrinol (Oxf)
; 82(3): 453-61, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25196842
4.
The interaction of glucocorticoids and progesterone distinctively affects epithelial sodium transport.
Lung
; 192(6): 935-46, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25173779
5.
Estrogen modulates plasminogen promoter activity.
Biochem Biophys Res Commun
; 438(1): 110-5, 2013 Aug 16.
Article
in English
| MEDLINE | ID: mdl-23872150
6.
Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency.
BMC Endocr Disord
; 13: 56, 2013 Dec 01.
Article
in English
| MEDLINE | ID: mdl-24289245
7.
From GHRH to IGF-1 and downstream: clinical phenotypes and biological mechanisms.
Pediatr Endocrinol Rev
; 9 Suppl 1: 529-34, 2011 Sep.
Article
in English
| MEDLINE | ID: mdl-22423511
8.
A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children.
J Clin Endocrinol Metab
; 105(4)2020 04 01.
Article
in English
| MEDLINE | ID: mdl-31680140
9.
IGF signaling defects as causes of growth failure and IUGR.
Trends Endocrinol Metab
; 19(6): 197-205, 2008 Aug.
Article
in English
| MEDLINE | ID: mdl-18515143
10.
IGF1R Gene Alterations in Children Born Small for Gestitional Age (SGA).
Open Access Maced J Med Sci
; 6(11): 2040-2044, 2018 Nov 25.
Article
in English
| MEDLINE | ID: mdl-30559857
11.
Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly.
Front Genet
; 9: 245, 2018.
Article
in English
| MEDLINE | ID: mdl-30057589
12.
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.
Nat Commun
; 9(1): 2105, 2018 05 29.
Article
in English
| MEDLINE | ID: mdl-29844444
13.
IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.
N Engl J Med
; 349(23): 2211-22, 2003 Dec 04.
Article
in English
| MEDLINE | ID: mdl-14657428
14.
Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism.
Mol Metab
; 6(3): 295-305, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28271036
15.
Copy number variations in "classical" obesity candidate genes are not frequently associated with severe early-onset obesity in children.
J Pediatr Endocrinol Metab
; 30(5): 507-515, 2017 May 01.
Article
in English
| MEDLINE | ID: mdl-28593922
16.
Evidence against a direct effect of leptin on insulin-like growth factor-I (IGF-I), IGFBP-2 and IGF-I receptor expression in human SK-N-MC neuroepithelioma cells.
Regul Pept
; 130(1-2): 35-41, 2005 Aug 15.
Article
in English
| MEDLINE | ID: mdl-15932773
17.
Obesity in childhood and adolescence: a review in the interface between adipocyte physiology and clinical challenges.
Hormones (Athens)
; 4(4): 189-199, 2005.
Article
in English
| MEDLINE | ID: mdl-16613817
18.
Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose tolerance.
J Pediatr Endocrinol Metab
; 28(1-2): 217-25, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25153223
19.
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.
Eur J Endocrinol
; 168(1): K1-7, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-23045302
20.
Alu-mediated recombination defect in IGF1R: haploinsufficiency in a patient with short stature.
Horm Res Paediatr
; 80(6): 431-42, 2013.
Article
in English
| MEDLINE | ID: mdl-24296753