A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation.

Bone Abstracts ◽

10.1530/boneabs.1.pp271 ◽

2013 ◽

Author(s):

Alessandra Mihalich ◽

Emanuela Ponti ◽

Francesca Broggi ◽

Anna Maria Di Blasio ◽

Maria Luisa Bianchi

Keyword(s):

Osteogenesis Imperfecta ◽

Familial Case ◽

Phenotype Correlation ◽

Correction to: Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing

Osteoporosis International ◽

10.1007/s00198-017-4250-6 ◽

2017 ◽

Vol 29 (1) ◽

pp. 261-261

Author(s):

Y. Liu ◽

Asan ◽

D. Ma ◽

F. Lv ◽

X. Xu ◽

...

Keyword(s):

Next Generation Sequencing ◽

Osteogenesis Imperfecta ◽

Gene Mutation ◽

Mutation Spectrum ◽

Next Generation ◽

Phenotype Correlation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation

Ultrastructural Pathology ◽

10.3109/01913123.2016.1140253 ◽

2016 ◽

Vol 40 (2) ◽

pp. 71-76 ◽

Cited By ~ 8

Author(s):

M. Balasubramanian ◽

G. J. Sobey ◽

B. E. Wagner ◽

L. C. Peres ◽

J. Bowen ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Histological Findings ◽

Phenotype Correlation ◽

Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype–phenotype correlation

BDJ Open ◽

10.1038/s41405-019-0014-z ◽

2019 ◽

Vol 5 (1) ◽

Cited By ~ 1

Author(s):

M. Chetty ◽

T. Roberts ◽

S. Shaik ◽

P. Beighton

Keyword(s):

South Africa ◽

Osteogenesis Imperfecta ◽

Osteogenesis Imperfecta Type ◽

Dentinogenesis Imperfecta ◽

Phenotype Correlation ◽

Expanding the genotype--phenotype correlation of osteogenesis imperfecta with a novel mutation in Col1A2 gene

Bone Abstracts ◽

10.1530/boneabs.6.p115 ◽

2017 ◽

Author(s):

Qanoobi Maimoona Al ◽

Harriet Ryan ◽

Ciara McDonnell

Keyword(s):

Osteogenesis Imperfecta ◽

Novel Mutation ◽

Phenotype Correlation ◽

Col1a2 Gene

Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing

Osteoporosis International ◽

10.1007/s00198-017-4143-8 ◽

2017 ◽

Vol 28 (10) ◽

pp. 2985-2995 ◽

Cited By ~ 21

Author(s):

Y. Liu ◽

Asan ◽

D. Ma ◽

F. Lv ◽

X. Xu ◽

...

Keyword(s):

Next Generation Sequencing ◽

Osteogenesis Imperfecta ◽

Gene Mutation ◽

Mutation Spectrum ◽

Next Generation ◽

Phenotype Correlation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients

European Journal of Human Genetics ◽

10.1038/s41431-019-0373-x ◽

2019 ◽

Vol 27 (7) ◽

pp. 1090-1100 ◽

Cited By ~ 12

Author(s):

Margherita Maioli ◽

Maria Gnoli ◽

Manila Boarini ◽

Morena Tremosini ◽

Anna Zambrano ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Correlation Study ◽

Phenotype Correlation ◽

Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta

Clinica Chimica Acta ◽

10.1016/j.cca.2018.05.048 ◽

2018 ◽

Vol 484 ◽

pp. 141-147 ◽

Cited By ~ 3

Author(s):

Nadiah Mohd Nawawi ◽

Nalini M. Selveindran ◽

Rahmah Rasat ◽

Yock Ping Chow ◽

Zarina Abdul Latiff ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Phenotype Correlation ◽

Mutational spectrum of COL1A1 and COL1A2 in Egyptian patients with autosomal dominant osteogenesis imperfecta with clinical severity score and genotype/phenotype correlation

Middle East Journal of Medical Genetics ◽

10.1097/01.mxe.0000457061.88602.72 ◽

2015 ◽

Vol 4 (1) ◽

pp. 7-12 ◽

Cited By ~ 1

Author(s):

Mona S. Aglan ◽

Mohamed S. Abdel-Hamid ◽

Ghada A. Otaify ◽

Somaia M. Ismail ◽

Laila K. Effat ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Severity Score ◽

Autosomal Dominant ◽

Clinical Severity ◽

Phenotype Correlation ◽

Mutational Spectrum ◽

Clinical Severity Score ◽

Egyptian Patients

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta

Bone ◽

10.1016/j.bone.2018.02.029 ◽

2018 ◽

Vol 110 ◽

pp. 368-377 ◽

Cited By ~ 17

Author(s):

Julia Mrosk ◽

Gandham SriLakshmi Bhavani ◽

Hitesh Shah ◽

Jochen Hecht ◽

Ulrike Krüger ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Phenotype Correlation ◽

Diagnostic Strategies ◽