Detalhe da pesquisa
1.
Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype.
Osteoporos Int
; 32(6): 1239-1244, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33624138
2.
A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.
Clin Genet
; 88(1): 74-9, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24989235
3.
Response to report of rickets in twins occurring after maternal bisphosphonate exposure.
Arch Pediatr
; 27(4): 233-234, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32280048
4.
Osteocalcin abnormalities in Hyp mice reflect altered genetic expression and are not due to altered clearance, affinity for mineral, or ambient phosphorus levels.
Endocrinology
; 137(12): 5213-9, 1996 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-8940337
5.
Development and validation of a radioimmunoassay for mouse osteocalcin: paradoxical response in the Hyp mouse.
Endocrinology
; 130(4): 1909-15, 1992 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-1547718
6.
Osteocalcin production in primary osteoblast cultures derived from normal and Hyp mice.
Endocrinology
; 139(1): 35-43, 1998 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-9421395
7.
Cardiovascular abnormalities in patients with X-linked hypophosphatemia.
J Clin Endocrinol Metab
; 82(8): 2450-4, 1997 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-9253316
8.
Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia.
J Clin Endocrinol Metab
; 78(6): 1378-83, 1994 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-8200940
9.
Changes in bone turnover in young women consuming different levels of dietary protein.
J Clin Endocrinol Metab
; 84(3): 1052-5, 1999 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-10084594
10.
Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets.
J Clin Endocrinol Metab
; 86(8): 3889-99, 2001 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-11502829
11.
Variable expression of 5 alpha-reductase deficiency: presentation with male phenotype in a child of Greek origin.
J Clin Endocrinol Metab
; 71(2): 318-22, 1990 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-2143199
12.
Insulin resistance: an early metabolic defect of Turner's syndrome.
J Clin Endocrinol Metab
; 72(4): 832-6, 1991 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-2005209
13.
24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study.
J Clin Endocrinol Metab
; 81(6): 2381-8, 1996 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-8964881
14.
Increased circulating concentrations of parathyroid hormone in healthy, young women consuming a protein-restricted diet.
Am J Clin Nutr
; 66(5): 1188-96, 1997 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-9356538
15.
Progressive tubulointerstitial renal disease in infancy with associated hepatic abnormalities.
Am J Med
; 81(1): 169-76, 1986 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-3524222
16.
Hyperthyroidism: a novel feature of the tubulointerstitial nephritis and uveitis syndrome.
Pediatrics
; 104(2 Pt 1): 314-7, 1999 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-10429017
17.
Safety of parenteral hydroxypropyl beta-cyclodextrin.
J Pharm Sci
; 84(2): 222-5, 1995 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-7738806
18.
Hydroxypropylcyclodextrins in parenteral use. II: Effects on transport and disposition of lipids in rabbit and humans.
J Pharm Sci
; 81(6): 524-8, 1992 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-1522488
19.
New perspectives on the biology and treatment of X-linked hypophosphatemic rickets.
Pediatr Clin North Am
; 44(2): 443-66, 1997 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-9130929
20.
Early puberty in Williams syndrome.
Clin Dysmorphol
; 8(2): 117-21, 1999 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-10319200