Detalhe da pesquisa
1.
Medical Management for Fracture Prevention in Children with Osteogenesis Imperfecta.
Calcif Tissue Int
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38553634
2.
Growth reference charts for children with hypochondroplasia.
Am J Med Genet A
; 194(2): 243-252, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37814549
3.
Diagnosis and initial management of children presenting with premature loss of primary teeth associated with a systemic condition: A scoping review and development of clinical aid.
Int J Paediatr Dent
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38609350
4.
Early Life Management of Osteogenesis Imperfecta.
Curr Osteoporos Rep
; 21(6): 779-786, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37752354
5.
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review.
J Med Genet
; 59(8): 810-816, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34462290
6.
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
Genet Med
; 24(12): 2444-2452, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36107167
7.
The (extended) achondroplasia foramen magnum score has good observer reliability.
Pediatr Radiol
; 52(8): 1512-1520, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396670
8.
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.
Lancet
; 396(10252): 684-692, 2020 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891212
9.
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.
Genet Med
; 23(12): 2443-2447, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34341520
10.
High-resolution peripheral quantitative computed tomography in children with osteogenesis imperfecta.
Pediatr Radiol
; 50(12): 1781-1787, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32613359
11.
Type V osteogenesis imperfecta undergoing surgical correction for scoliosis.
Eur Spine J
; 27(9): 2079-2084, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460010
12.
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.
Mol Genet Metab
; 122(1-2): 4-17, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28888853
13.
Expanding the phenotype of SETD5-related disorder and presenting a novel association with bone fragility.
Clin Genet
; 100(3): 352-354, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34169511
14.
Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.
Am J Med Genet A
; 170A(2): 476-481, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26471105
15.
Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.
Am J Med Genet A
; 170(12): 3303-3307, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27549894
16.
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
Am J Med Genet A
; 170(12): 3150-3156, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27576954
17.
CRTAP mutation in a patient with Cole-Carpenter syndrome.
Am J Med Genet A
; 167A(3): 587-91, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604815
18.
Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial.
Lancet
; 382(9902): 1424-32, 2013 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-23927913
19.
Fracture prediction and the definition of osteoporosis in children and adolescents: the ISCD 2013 Pediatric Official Positions.
J Clin Densitom
; 17(2): 275-80, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24631254
20.
Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.
Lancet Child Adolesc Health
; 8(1): 40-50, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37984383