Results 161 to 170 of about 32,840 (255)

Most infants with prenatal osteogenesis imperfecta diagnosis and poor prognosis survive: experience of a quaternary care osteogenesis imperfecta center. [PDF]

JBMR Plus
Carroll RS, Little S, McGreal T, Bonner S, Willis D, Franzone JM, Campbell J, Chou M, Raymond MB, Schelhaas A, Costa J, Jain M.   +11 more
europepmc   +1 more source

Diagnostic Challenges in Bone Fragility: Osteogenesis Imperfecta Case Series. [PDF]

Biomedicines
Costache A, Riza AL, Popescu M, Șerban RC, Mituț-Velișcu AM, Streață I.   +5 more
europepmc   +1 more source

Reply to osteogenesis imperfecta calls for caution [PDF]

, 1999
Edwin M. Horwitz, Darwin J. Prockop, Lorraine A. Fitzpatrick, Winston Koo, Jeffrey C. Marx, Malcolm K. Brenner   +5 more
openalex   +1 more source

Genetic landscape and phenotypic spectrum of osteogenesis imperfecta in the Kazakhstani pediatric population. [PDF]

Sci Rep
Bayanova M, Abilova A, Rakhimzhanova M, Bazenova A, Nazarova L, Malik D, Tanko NM, Altaeva N, Bolatov A.   +8 more
europepmc   +1 more source

Surgical stabilisation of the lower limb in osteogenesis imperfecta using the Sheffield telescopic intramedullary rod system [PDF]

, 1998
Janine M. Wilkinson, Brian W. Scott, A. M. Clarke, Michael J. Bell   +3 more
openalex   +1 more source

Splice‑site variant c.3531+1G>T in <i>COL1A1</i> in a family with osteogenesis imperfecta. [PDF]

Mol Med Rep
Huang Y, Zhou Y, Zhang L, Shen Y, Yao X, Xie J, Mei L, Ge Y.   +7 more
europepmc   +1 more source

Anthropometry of patients with osteogenesis imperfecta [PDF]

, 1999
Allan M. Lund, J. Müller, Flemming Skovby   +2 more
openalex   +1 more source

The Spectra of Pathogenic Variants and Phenotypes in a Chinese Cohort of 298 Families with Osteogenesis Imperfecta. [PDF]

Genes (Basel)
Zhou S, Ren X, Cao Y, Mi H, Han M, Li L, Jiang C, Ye Y, Zheng C, Zhao B, Yang T, Wu N, Li Z, Wu L, Zhao X.   +14 more
europepmc   +1 more source

Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to define an unusual mutation

, 1991
Arupa Ganguly, Clinton T. Baldwin, Deike Strobel, D. Conway, William A. Horton, Darwin J. Prockop   +5 more
openalex   +1 more source

Perinatal lethal osteogenesis imperfecta. [PDF]

, 1995
William G. Cole, Raymond Dalgleish
openalex   +1 more source