scholarly journals COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3

2015 ◽  
pp. 275
Author(s):  
Lucie Hrušková ◽  
Ivan Mazura ◽  
Ivo Marik ◽  
Stella Mazurova ◽  
Pavel Martasek
Keyword(s):  
Osteogenesis Imperfecta ◽  
Novel Mutation ◽  
Gene Analysis ◽  
Osteogenesis Imperfecta Type ◽  
Osteogenesis Imperfecta Patient ◽  
Col1a2 Gene ◽  
Type 3

A Case of Osteogenesis Imperfecta Type II Caused by a Novel COL1A2 Gene Mutation: Endoscopic Third Ventriculostomy to Prevent Hydrocephalus

2012 ◽  
Vol 43 (04) ◽  
pp. 225-228
Author(s):  
Yasuo Hachiya ◽  
Masaharu Hayashi ◽  
Takashi Negishi ◽  
Soh Atsumi ◽  
Masaya Kubota ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Gene Mutation ◽  
Endoscopic Third Ventriculostomy ◽  
Third Ventriculostomy ◽  
Osteogenesis Imperfecta Type ◽  
Type Ii ◽  
Col1a2 Gene

scholarly journals Elastic intramedullary nailing of the femur fracture in patients affected by osteogenesis imperfecta type 3: Indications, limits and pitfalls

Injury ◽  
2019 ◽  
Vol 50 ◽  
pp. S52-S56 ◽  
Author(s):  
Pietro Persiani ◽  
Lorena Martini ◽  
Filippo Maria Ranaldi ◽  
Anna Zambrano ◽  
Mauro Celli ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Intramedullary Nailing ◽  
Femur Fracture ◽  
Osteogenesis Imperfecta Type ◽  
Elastic Intramedullary Nailing ◽  
Type 3

scholarly journals Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10

2017 ◽  
Vol 107 (5) ◽  
pp. 457 ◽  
Author(s):  
Alvera Vorster ◽  
Peter Beighton ◽  
Manogari Chetty ◽  
Yasmeen Ganie ◽  
Bertram Henderson ◽  
...  
Keyword(s):  
South Africa ◽  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Type 3

scholarly journals Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene

2017 ◽  
Vol 27 ◽  
Author(s):  
Akin Usta ◽  
Dilay Karademir ◽  
Eylem Sen ◽  
Selcuk Yazici ◽  
Ertan Adali ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Type Iv ◽  
Col1a2 Gene

scholarly journals Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3

2017 ◽  
Vol 82 (5) ◽  
pp. 753-758 ◽  
Author(s):  
Muhammad Umair ◽  
Bader Alhaddad ◽  
Afzal Rafique ◽  
Abid Jan ◽  
Tobias B Haack ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Exome Sequencing ◽  
Splice Site ◽  
Osteogenesis Imperfecta Type ◽  
Splice Site Variant ◽  
Type 3
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