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Effect of alendronate therapy in children with osteogenesis imperfecta
Effect of alendronate therapy in children with osteogenesis imperfecta.
FP - Ostatní lékařské obory
- 2005 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Quantitative ultrasonometry of the calcaneus in children with osteogenesis imperfecta
Ultrasound parameters of calcaneal bone quality are low in children with osteogenesis imperfecta andare not related to number of prevalent fractures....
FG - Pediatrie
- 2010 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Osteogenesis imperfecta.
Osteogenesis imperfecta is an inheritable connective tissue disorder with variable phenotypic expression. Quantitative and qualitative of the genetic error in type I collagen foramation are typical in the 90 % of pateints....
FI - Traumatologie a ortopedie
- 2010 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Osteogenesis imperfecta in childhood on the part of clinician
State of art information about different types, hereditability, and treatment possibilities of osteogenesis imperfecta, main cause of genetically determined status of brittle bones in children....
FG - Pediatrie
- 2011 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Osteogenesis imperfecta in children - what attending physicians should know
Treatment of osteogenesis imperfecta requires careful cooperation of physician and family since birth of the child. This review should be source of information for all attending physicians....
FG - Pediatrie
- 2009 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Collagen type I gene mutations of alpha 1 chain (Col1A1) in Czech patients with Osteogenesis Imperfecta Syndrome
Collagen gene mutations in patients with osteogenesis imperfecta syndrome. Comparison of genotype and phenotype.
EB - Genetika a molekulární biologie
- 2003 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Etiology of Osteogenesis Imperfecta: COL1A1 Gene Mutations in Czech Patients
Osteogenesis imperfecta (OI) is caused by collagen gene mutations. Authors describe a group of patients with OI from clinical and genetical aspects - with the interest of phenotype and genotype comparison....
EB - Genetika a molekulární biologie
- 2003 •
- D
Rok uplatnění
D - Stať ve sborníku
COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3
Osteogenesis imperfecta is a heritable bone fragility disease and radiographic features as having type 3 osteogenesis imperfecta, which is a severe form provides both evidence of a novel COL1A2 mutation resulting i...
EB - Genetika a molekulární biologie
- 2015 •
- Jx •
- Link
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Výsledek na webu
Osteogenesis imperfecta, type IA
The authors present a case report of osteogenesis imperfecta, type I. There are described characteristic clinical features and molecular-genetic origin of the disease. Case report is accompanied by visual documentation and results o...
FG - Pediatrie
- 2016 •
- Jx •
- Link
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Výsledek na webu
Etiology of Osteogenesis Imperfecta: COL1A1 Gene Mutations in Czech Patients
Etiology, different type of mutations, col 1 A 1 gene...
EB - Genetika a molekulární biologie
- 2003 •
- C
Rok uplatnění
C - Kapitola v odborné knize
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