Detalhe da pesquisa
1.
The PDE4 Inhibitors Roflumilast and Rolipram Rescue ADO2 Osteoclast Resorption Dysfunction.
Calcif Tissue Int
; 114(4): 430-443, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38483547
2.
Effect of Roflumilast, a Selective PDE4 Inhibitor, on Bone Phenotypes in ADO2 Mice.
Calcif Tissue Int
; 114(4): 419-429, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38300304
3.
Effect of Allele-Specific Clcn7G213R siRNA Delivered Via a Novel Nanocarrier on Bone Phenotypes in ADO2 Mice on 129S Background.
Calcif Tissue Int
; 2024 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38733412
4.
Bone marrow transplantation as a therapy for autosomal dominant osteopetrosis type 2 in mice.
FASEB J
; 36(9): e22471, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35959867
5.
Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).
Hum Mutat
; 43(2): 143-157, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34806794
6.
Radiographic imaging, densitometry and disease severity in Autosomal dominant osteopetrosis type 2.
Skeletal Radiol
; 50(5): 903-913, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33009917
7.
Case 18-2022: A 29-Year-Old Woman with Recurrent Fractures.
N Engl J Med
; 386(24): 2316-2326, 2022 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35704485
8.
Effects of Iron Isomaltoside vs Ferric Carboxymaltose on Hypophosphatemia in Iron-Deficiency Anemia: Two Randomized Clinical Trials.
JAMA
; 323(5): 432-443, 2020 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32016310
9.
Genetic Variants Associated with Circulating Fibroblast Growth Factor 23.
J Am Soc Nephrol
; 29(10): 2583-2592, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30217807
10.
Genetic Variants Associated with Circulating Parathyroid Hormone.
J Am Soc Nephrol
; 28(5): 1553-1565, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27927781
11.
Bone Mass and Strength are Significantly Improved in Mice Overexpressing Human WNT16 in Osteocytes.
Calcif Tissue Int
; 100(4): 361-373, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28013361
12.
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
PLoS Genet
; 10(6): e1004423, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24945404
13.
Genome-wide association study of serum iron phenotypes in premenopausal women of European descent.
Blood Cells Mol Dis
; 57: 50-3, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26852655
14.
Hypophosphatemic rickets: revealing novel control points for phosphate homeostasis.
Curr Osteoporos Rep
; 12(3): 252-62, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24980542
15.
Patient-Reported Outcomes in Autosomal Dominant Osteopetrosis: Findings from the Osteopetrosis Registry Study.
J Clin Endocrinol Metab
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38661205
16.
Autosomal Dominant Osteopetrosis (ADO) caused by a Missense Variant in the TCIRG1 Gene.
J Clin Endocrinol Metab
; 2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38261998
17.
regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions.
Bioinformatics
; 28(14): 1879-86, 2012 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22611130
18.
Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia.
Calcif Tissue Int
; 93(2): 155-62, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23700148
19.
Autosomal dominant osteopetrosis.
Bone
; 170: 116723, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36863500
20.
Hyperphosphatemic Tumoral Calcinosis With Pemigatinib Use.
AACE Clin Case Rep
; 8(5): 217-220, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36189136