Detalhe da pesquisa
1.
Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood.
Calcif Tissue Int
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38836890
2.
Proceedings of the 2022 Santa Fe Bone Symposium: Current Concepts in the Care of Patients with Osteoporosis and Metabolic Bone Diseases.
J Clin Densitom
; 25(4): 649-667, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36280582
3.
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Genet Med
; 23(10): 1882-1888, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040190
4.
Health-related quality of life in adults with osteogenesis imperfecta.
Clin Genet
; 99(6): 772-779, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33580568
5.
Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY.
Am J Med Genet A
; 185(12): 3531-3540, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32243688
6.
Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report.
BMC Med Genet
; 21(1): 189, 2020 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32993552
7.
The Rare Bone Disease TeleECHO Program: Leveraging Telehealth to Improve Rare Bone Disease Care.
Curr Osteoporos Rep
; 18(4): 344-349, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32514667
8.
Orthopaedic Management of Leg-length Discrepancy in Proteus Syndrome: A Case Series.
J Pediatr Orthop
; 38(3): e138-e144, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29329145
9.
A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
N Engl J Med
; 365(7): 611-9, 2011 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21793738
10.
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Am J Med Genet A
; 164A(7): 1713-33, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24782230
11.
A Comprehensive Review of Bone Health in a Child: From Birth to Adulthood.
J Am Acad Orthop Surg
; 32(9): 363-372, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38261781
12.
Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY.
Am J Med Genet C Semin Med Genet
; 163C(1): 44-9, 2013 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23359596
13.
"Osteogenesis Imperfecta Patients Wish Orthopedic Surgeons Had Better Strategies to Help with "-Results of a Patient and Parent-Oriented Survey.
Children (Basel)
; 10(8)2023 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628344
14.
Best Practice Guidelines for Assessment and Management of Osteoporosis in Adult Patients Undergoing Elective Spinal Reconstruction.
Spine (Phila Pa 1976)
; 47(2): 128-135, 2022 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34690329
15.
AKT1 polymorphisms are associated with risk for metabolic syndrome.
Hum Genet
; 129(2): 129-39, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21061022
16.
Bone quality: educational tools for patients, physicians, and educators.
Clin Orthop Relat Res
; 469(8): 2248-59, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21400004
17.
Breakout session: Sex/Gender and racial/ethnic disparities in the care of osteoporosis and fragility fractures.
Clin Orthop Relat Res
; 469(7): 1936-40, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21424834
18.
Association between upper extremity fractures and weight status in children.
Pediatr Emerg Care
; 27(8): 717-22, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21811198
19.
A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta.
Orphanet J Rare Dis
; 16(1): 140, 2021 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33743784
20.
Editorial Comment: Symposium: Sex Differences in Musculoskeletal Disease and Science.
Clin Orthop Relat Res
; 473(8): 2474-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077610