Detalhe da pesquisa
1.
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
Am J Med Genet A
; 188(12): 3448-3462, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36103153
2.
Skeletal maturation in children with Cushing syndrome is not consistently delayed: the role of corticotropin, obesity, and steroid hormones, and the effect of surgical cure.
J Pediatr
; 164(4): 801-6, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24412141
3.
Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes.
Arthritis Rheum
; 64(7): 2375-86, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22294344
4.
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.
N Engl J Med
; 360(23): 2426-37, 2009 Jun 04.
Artigo
Inglês
| MEDLINE | ID: mdl-19494218
5.
Cervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuse.
Pediatr Radiol
; 42(11): 1301-4, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22825777
6.
Feasibility of simultaneous computed tomographic colonography and fully automated bone mineral densitometry in a single examination.
J Comput Assist Tomogr
; 35(2): 212-6, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-21412092
7.
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition.
N Engl J Med
; 355(6): 581-92, 2006 Aug 10.
Artigo
Inglês
| MEDLINE | ID: mdl-16899778
8.
Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome.
Am J Respir Crit Care Med
; 178(10): 1066-74, 2008 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18703788
9.
Reduced abdominal adiposity and improved glucose tolerance in growth hormone-treated girls with Turner syndrome.
J Clin Endocrinol Metab
; 93(6): 2109-14, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18349057
10.
Effects of child- and adolescent-onset endogenous Cushing syndrome on bone mass, body composition, and growth: a 7-year prospective study into young adulthood.
J Bone Miner Res
; 22(1): 110-8, 2007 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-17042737
11.
Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study.
J Clin Endocrinol Metab
; 92(6): 2100-6, 2007 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-17405850
12.
Treatment with a luteinizing hormone-releasing hormone agonist in adolescents with short stature.
N Engl J Med
; 348(10): 908-17, 2003 Mar 06.
Artigo
Inglês
| MEDLINE | ID: mdl-12621135
13.
The effects of growth hormone treatment on bone mineral density and body composition in girls with turner syndrome.
J Clin Endocrinol Metab
; 91(11): 4302-5, 2006 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-16940444
14.
Effects of chronic osteoarthritis pain on neuroendocrine function in men.
J Clin Endocrinol Metab
; 91(11): 4313-8, 2006 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-16912126
15.
Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short-term functional improvement.
J Bone Miner Res
; 20(6): 977-86, 2005 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-15883638
16.
Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.
J Clin Endocrinol Metab
; 100(2): E325-32, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25387264
17.
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
J Clin Invest
; 125(11): 4196-211, 2015 Nov 02.
Artigo
Inglês
| MEDLINE | ID: mdl-26524591
18.
Selective reduction in cortical bone mineral density in turner syndrome independent of ovarian hormone deficiency.
J Clin Endocrinol Metab
; 88(12): 5717-22, 2003 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-14671158
19.
Ultrasound is superior to computed tomography for assessment of medullary nephrocalcinosis in hypoparathyroidism.
J Clin Endocrinol Metab
; 98(3): 989-94, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23348401
20.
Systemic diagnostic testing in patients with apparently isolated uveal coloboma.
Am J Ophthalmol
; 156(6): 1159-1168.e4, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24012100