Search details
1.
Standardized growth charts for children with osteogenesis imperfecta.
Pediatr Res
; 94(3): 1075-1082, 2023 09.
Article
in English
| MEDLINE | ID: mdl-36922619
2.
Lrp5 controls bone formation by inhibiting serotonin synthesis in the duodenum.
Cell
; 135(5): 825-37, 2008 Nov 28.
Article
in English
| MEDLINE | ID: mdl-19041748
3.
Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1/COL1A2.
Genet Med
; 24(9): 1920-1926, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35657380
4.
Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia.
Calcif Tissue Int
; 108(5): 622-633, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33484279
5.
Predicting ambulatory function at skeletal maturity in children with moderate to severe osteogenesis imperfecta.
Eur J Pediatr
; 180(1): 233-239, 2021 Jan.
Article
in English
| MEDLINE | ID: mdl-32719894
6.
Increased Osteocyte Lacunae Density in the Hypermineralized Bone Matrix of Children with Osteogenesis Imperfecta Type I.
Int J Mol Sci
; 22(9)2021 Apr 26.
Article
in English
| MEDLINE | ID: mdl-33925942
7.
Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.
Lancet
; 393(10189): 2416-2427, 2019 06 15.
Article
in English
| MEDLINE | ID: mdl-31104833
8.
Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.
Am J Med Genet A
; 182(4): 697-704, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31876392
9.
Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.
Genet Med
; 21(2): 275-283, 2019 02.
Article
in English
| MEDLINE | ID: mdl-29970925
10.
Mobility in osteogenesis imperfecta: a multicenter North American study.
Genet Med
; 21(10): 2311-2318, 2019 10.
Article
in English
| MEDLINE | ID: mdl-30918359
11.
A multicenter study to evaluate pulmonary function in osteogenesis imperfecta.
Clin Genet
; 94(6): 502-511, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30152014
12.
A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children.
Hum Mol Genet
; 24(2): 516-24, 2015 Jan 15.
Article
in English
| MEDLINE | ID: mdl-25214535
13.
Muscle Function in Osteogenesis Imperfecta Type IV.
Calcif Tissue Int
; 101(4): 362-370, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28474170
14.
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.
Am J Hum Genet
; 92(2): 252-8, 2013 Feb 07.
Article
in English
| MEDLINE | ID: mdl-23290074
15.
Body Composition in Children and Adolescents with Osteogenesis Imperfecta.
J Pediatr
; 169: 232-7, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26593106
16.
Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions.
Calcif Tissue Int
; 98(1): 76-84, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26478226
17.
Osteogenesis Imperfecta Type VI in Individuals from Northern Canada.
Calcif Tissue Int
; 98(6): 566-72, 2016 06.
Article
in English
| MEDLINE | ID: mdl-26815784
18.
Evaluation of a Modified Pamidronate Protocol for the Treatment of Osteogenesis Imperfecta.
Calcif Tissue Int
; 98(1): 42-8, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26387692
19.
Multidisciplinary Treatment of Severe Osteogenesis Imperfecta: Functional Outcomes at Skeletal Maturity.
Arch Phys Med Rehabil
; 96(10): 1834-9, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26140741
20.
Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer.
Calcif Tissue Int
; 95(4): 323-31, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25086671