Search details
1.
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
2.
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
3.
Mobility in osteogenesis imperfecta: a multicenter North American study.
Genet Med
; 21(10): 2311-2318, 2019 10.
Article
in English
| MEDLINE | ID: mdl-30918359
4.
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
5.
Cross-sectional and longitudinal growth patterns in osteogenesis imperfecta: implications for clinical care.
Pediatr Res
; 79(3): 489-95, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26539664
6.
Increased fracture risk and low bone mineral density in patients with loeys-dietz syndrome.
Am J Med Genet A
; 161A(8): 1910-4, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23825031
7.
Bone mineral density and fracture rate in response to intravenous and oral bisphosphonates in adult osteogenesis imperfecta.
Calcif Tissue Int
; 87(2): 120-9, 2010 Aug.
Article
in English
| MEDLINE | ID: mdl-20544187
8.
Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations.
Pediatr Res
; 68(5): 446-51, 2010 Nov.
Article
in English
| MEDLINE | ID: mdl-20661168
9.
Osteogenesis imperfecta: questions and answers.
Curr Opin Pediatr
; 21(6): 709-16, 2009 Dec.
Article
in English
| MEDLINE | ID: mdl-19907330
10.
ADULT OSTEOPOROSIS WITH A HISTORY OF CHILDHOOD-ONSET FRACTURE DUE TO AN LRP5 RECEPTOR VARIANT MUTATION.
AACE Clin Case Rep
; 5(6): e362-e364, 2019.
Article
in English
| MEDLINE | ID: mdl-31967071
11.
A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta.
JBMR Plus
; 3(5): e10118, 2019 May.
Article
in English
| MEDLINE | ID: mdl-31131341
12.
Hypophosphatasia in Adults: Clinical Assessment and Treatment Considerations.
J Bone Miner Res
; 32(10): 1977-1980, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28731215
13.
Zoledronic acid improves bone histomorphometry in a murine model of Rett syndrome.
Bone
; 99: 1-7, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28323142
14.
Health outcomes of neonates with osteogenesis imperfecta: a cross-sectional study.
J Matern Fetal Neonatal Med
; 29(23): 3889-93, 2016 Dec.
Article
in English
| MEDLINE | ID: mdl-26857929
15.
Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence.
PLoS One
; 11(2): e0146824, 2016.
Article
in English
| MEDLINE | ID: mdl-26849438
16.
Sandwich allografts for long-bone nonunions in patients with osteogenesis imperfecta: a retrospective study.
J Bone Joint Surg Am
; 97(4): 318-25, 2015 Feb 18.
Article
in English
| MEDLINE | ID: mdl-25695984
17.
Osteoblast function and bone histomorphometry in a murine model of Rett syndrome.
Bone
; 76: 23-30, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25769649
18.
Reduced incidence of hip fracture in the Old Order Amish.
J Bone Miner Res
; 19(2): 308-13, 2004 Feb.
Article
in English
| MEDLINE | ID: mdl-14969401
19.
Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.
J Bone Miner Res
; 28(7): 1523-30, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23408678
20.
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
Nat Genet
; 45(9): 1050-4, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23913001