Detalhe da pesquisa
1.
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.
Am J Med Genet A
; : e63646, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38702915
2.
Hip Displacement in Spinal Muscular Atrophy: The Influences of Genetic Severity, Functional Level, and Disease-modifying Treatments.
J Pediatr Orthop
; 44(3): e226-e231, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38073182
3.
Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study.
Anesth Analg
; 137(5): 1075-1083, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37862598
4.
Posterior cervical spinal fusion in the pediatric population using modern adult instrumentation - clinical outcome and safety.
Childs Nerv Syst
; 39(6): 1573-1580, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36688999
5.
Growth Modulation by Tension Band Plate in Achondroplasia With Varus Knee Deformity: Comparison of Gait Analysis Measurements.
J Pediatr Orthop
; 43(3): 168-173, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36583511
6.
Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.
Calcif Tissue Int
; 111(1): 66-72, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35275235
7.
Risk Factors for Rebound After Correction of Genu Valgum in Skeletal Dysplasia Patients Treated by Tension Band Plates.
J Pediatr Orthop
; 42(4): 190-194, 2022 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051956
8.
Elongation-Derotation-Flexion Casting Treatment of Early-Onset Progressive Scoliosis in Skeletal Dysplasia.
J Pediatr Orthop
; 42(3): e229-e233, 2022 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34967803
9.
Late Conditions Diagnosed 1-4 Months Following an Initial Coronavirus Disease 2019 (COVID-19) Encounter: A Matched-Cohort Study Using Inpatient and Outpatient Administrative Data-United States, 1 March-30 June 2020.
Clin Infect Dis
; 73(Suppl 1): S5-S16, 2021 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909072
10.
Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography.
Pediatr Radiol
; 51(7): 1202-1213, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33608742
11.
Intraoperative Neurological Monitoring in Lower Limb Surgery for Patients With Mucopolysaccharidoses.
J Pediatr Orthop
; 41(3): 182-189, 2021 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33323879
12.
Blood pressure in adults with short stature skeletal dysplasias.
Am J Med Genet A
; 182(1): 150-161, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729121
13.
Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders.
Genet Med
; 21(9): 2070-2080, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696995
14.
Critical review of current MPS guidelines and management.
Mol Genet Metab
; 126(3): 238-245, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30143438
15.
Effect of enzyme replacement therapy on the growth of patients with Morquio A.
J Hum Genet
; 64(7): 625-635, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31019230
16.
Prevalence of mental health conditions and pain in adults with skeletal dysplasia.
Qual Life Res
; 28(6): 1457-1464, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30637564
17.
Comparison of Intended Lengthening of Magnetically Controlled Growing Rods: Ultrasound Versus X-Ray.
J Pediatr Orthop
; 39(2): e141-e146, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29016427
18.
Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results.
J Pediatr Orthop
; 39(6): 282-288, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31169747
19.
Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.
J Pediatr Orthop
; 39(9): e680-e686, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31503224
20.
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Mol Genet Metab
; 125(1-2): 18-37, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29779902