1 |
Non-accidental injury: confusion with temporary brittle bone disease and mild osteogenesis imperfecta.
62
24
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Ablin DS...Sane SM
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9028840 |
1997 |
2 |
Osteogenesis imperfecta.
62
24
|
Byers PH...Steiner RD
|
1580589 |
1992 |
3 |
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
24
|
Moosa S...Netzer C
|
31564437 |
2019 |
4 |
Mendelian bone fragility disorders.
24
|
Robinson ME...Rauch F
|
31039433 |
2019 |
5 |
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients.
24
|
Maioli M...Sangiorgi L
|
30886339 |
2019 |
6 |
A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly.
24
|
Budsamongkol T...Shotelersuk V
|
31193991 |
2019 |
7 |
A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta.
24
|
Bains JS...Raggio CL
|
31131341 |
2019 |
8 |
Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature.
24
|
Balasubramanian M...Loeys B
|
30684648 |
2019 |
9 |
The Forteo Patient Registry linkage to multiple state cancer registries: study design and results from the first 8 years.
24
|
Gilsenan A...Andrews E
|
29978254 |
2018 |
10 |
ZOLEDRONIC ACID VERSUS ALENDRONATE IN THE TREATMENT OF CHILDREN WITH OSTEOGENESIS IMPERFECTA: A 2-YEAR CLINICAL STUDY.
24
|
Lv F...Xing X
|
29466057 |
2018 |
11 |
Denosumab: an Emerging Therapy in Pediatric Bone Disorders.
24
|
Boyce AM
|
28643220 |
2017 |
12 |
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
24
|
Stenson PD...Cooper DN
|
28349240 |
2017 |
13 |
Bisphosphonate therapy for osteogenesis imperfecta.
24
|
Dwan K...Basel D
|
27760454 |
2016 |
14 |
Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2.
24
|
Frederiksen AL...Kroigard AB
|
27761249 |
2016 |
15 |
Safety and efficacy of denosumab in children with osteogenesis imperfect--a first prospective trial.
24
|
Hoyer-Kuhn H...Semler O
|
26944820 |
2016 |
16 |
Nosology and classification of genetic skeletal disorders: 2015 revision.
24
|
Bonafe L...Unger S
|
26394607 |
2015 |
17 |
Heart disease in patients with osteogenesis imperfecta - A systematic review.
24
|
Ashournia H...Brixen K
|
26100571 |
2015 |
18 |
Two years' experience with denosumab for children with osteogenesis imperfecta type VI.
24
|
Hoyer-Kuhn H...Semler O
|
25257953 |
2014 |
19 |
Evaluation of teriparatide treatment in adults with osteogenesis imperfecta.
24
|
Orwoll ES...Lee B
|
24463451 |
2014 |
20 |
Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms.
24
|
Otsuru S...Horwitz EM
|
22829629 |
2012 |
21 |
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.
24
|
van Dijk FS...Pals G
|
21829228 |
2012 |
22 |
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.
24
|
Pyott SM...Byers PH
|
21239989 |
2011 |
23 |
Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study.
24
|
Ward LM...Glorieux FH
|
21106710 |
2011 |
24 |
Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.
24
|
Ben Amor IM...Rauch F
|
21912751 |
2011 |
25 |
Complete COL1A1 allele deletions in osteogenesis imperfecta.
24
|
van Dijk FS...Pals G
|
21113976 |
2010 |
26 |
GH in combination with bisphosphonate treatment in osteogenesis imperfecta.
24
|
Antoniazzi F...Tato L
|
20592128 |
2010 |
27 |
A randomized, controlled dose-ranging study of risedronate in children with moderate and severe osteogenesis imperfecta.
24
|
Bishop N...Rigby A
|
19580461 |
2010 |
28 |
Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition.
24
|
Basel D...Steiner RD
|
19533842 |
2009 |
29 |
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2.
24
|
Faqeih E...Rauch F
|
19208385 |
2009 |
30 |
Connective tissue and vascular phenotype in patients with cervical artery dissection.
24
|
Dittrich R...Kuhlenbaumer G
|
17562832 |
2007 |
31 |
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
24
|
Malfait F...De Paepe A
|
17211858 |
2007 |
32 |
Stapes surgery in Japanese patients with osteogenesis imperfecta.
24
|
Doi K...Kubo T
|
17245052 |
2007 |
33 |
Syndromes with congenital brittle bones.
24
|
Plotkin H
|
15339338 |
2004 |
34 |
Stapes surgery in osteogenesis imperfecta in Finland.
24
|
Kuurila K...Grenman R
|
15053199 |
2004 |
35 |
Stapes surgery in osteogenesis imperfecta: results of a new series.
24
|
van der Rijt AJ...Cremers CW
|
14501445 |
2003 |
36 |
Positive linear growth and bone responses to growth hormone treatment in children with types III and IV osteogenesis imperfecta: high predictive value of the carboxyterminal propeptide of type I procollagen.
24
|
Marini JC...Reing CM
|
12568401 |
2003 |
37 |
Intravenous neridronate in adults with osteogenesis imperfecta.
24
|
Adami S...Tato L
|
12510813 |
2003 |
38 |
Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant.
24
|
Chien YH...Hwu WL
|
12638943 |
2002 |
39 |
Testing for osteogenesis imperfecta in cases of suspected non-accidental injury.
24
|
Marlowe A...Byers PH
|
12070242 |
2002 |
40 |
Osteogenesis imperfecta: mode of delivery and neonatal outcome.
24
|
Cubert R...Byers PH
|
11152910 |
2001 |
41 |
Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age.
24
|
Plotkin H...Glorieux FH
|
10843163 |
2000 |
42 |
Bone mineral content and collagen defects in osteogenesis imperfecta.
24
|
Lund AM...Skovby F
|
10565454 |
1999 |
43 |
Osteogenesis imperfecta: bone turnover, bone density, and ultrasound parameters.
24
|
Cepollaro C...Gennari C
|
10430645 |
1999 |
44 |
Basilar impression complicating osteogenesis imperfecta type IV: the clinical and neuroradiological findings in four cases.
24
|
Hayes M...Sillence D
|
10084535 |
1999 |
45 |
Osteogenesis imperfecta. Rehabilitation and prospects for gene therapy.
24
|
Marini JC...Gerber NL
|
9042848 |
1997 |
46 |
Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen.
24
|
Mayer SA...Byers PH
|
8757037 |
1996 |
47 |
Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta.
24
|
Steiner RD...Byers PH
|
8618190 |
1996 |
48 |
Gastrointestinal problems in patients who have type-III osteogenesis imperfecta.
24
|
Lee JH...Rinsky LA
|
7673285 |
1995 |
49 |
Perinatal lethal osteogenesis imperfecta.
24
|
Cole WG...Dalgleish R
|
7643358 |
1995 |
50 |
Bone density measurement in osteogenesis imperfecta may well be important.
24
|
Deodhar AA...Woolf AD
|
8029175 |
1994 |