Detalhe da pesquisa
1.
Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.
Am J Med Genet A
; 170A(4): 978-85, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26762549
2.
ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE.
Endocr Pract
; 22(8): 941-50, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27042741
3.
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
Hum Mol Genet
; 21(22): 4904-9, 2012 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22875837
4.
Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.
Am J Med Genet A
; 164A(9): 2287-93, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24989131
5.
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.
Nat Genet
; 36(4): 377-81, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15034582
6.
LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low-Density Lipoprotein Receptor-Related Protein 6.
JBMR Plus
; 7(4): e10717, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37065631
7.
Early identification of a 12-bp tandem duplication in TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK): Clinical characterization and response to bisphosphonate therapy.
Bone
; 170: 116698, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36740137
8.
X-Linked Hypophosphatemia Caused by the Prevailing North American PHEX Variant c.*231A>G; Exon 13-15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women.
JBMR Plus
; 6(12): e10692, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36530187
9.
Periarticular calcifications containing giant pseudo-crystals of francolite in skeletal fluorosis from 1,1-difluoroethane "huffing".
Bone
; 160: 116421, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35429657
10.
Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.
JBMR Plus
; 6(8): e10663, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35991533
11.
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
Hum Mutat
; 32(6): 598-609, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21344539
12.
Non-endemic skeletal fluorosis: Causes and associated secondary hyperparathyroidism (case report and literature review).
Bone
; 145: 115839, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33418099
13.
Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V.
Bone
; 145: 115835, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33360005
14.
A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease: A Case Report.
JBJS Case Connect
; 10(3): e19.00400, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668141
15.
Hyperphosphatemia with low FGF7 and normal FGF23 and sFRP4 levels in the circulation characterizes pediatric hypophosphatasia.
Bone
; 134: 115300, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112990
16.
High bone mass from mutation of low-density lipoprotein receptor-related protein 6 (LRP6).
Bone
; 141: 115550, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32730923
17.
Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK.
Bone
; 133: 115224, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31923705
18.
Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy.
Bone
; 138: 115459, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32474245
19.
Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7).
Bone
; 137: 115364, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32298837
20.
ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology.
J Bone Miner Res
; 35(10): 1974-1980, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32106343