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

Dentinogenesis Imperfecta ◽

Phenotype Correlation ◽

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

Bone Abstracts ◽

10.1530/boneabs.2.p160 ◽

2013 ◽

Author(s):

Ponti Emanuela ◽

Mihalich Alessandra ◽

Broggi Francesca ◽

Maria Di Blasio Anna ◽

Luisa Bianchi Maria

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 ◽

Genotype Phenotype Correlation ◽

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 ◽

Craniofacial manifestations in osteogenesis imperfecta type III in South Africa

BDJ Open ◽

10.1038/bdjopen.2017.21 ◽

2017 ◽

Vol 3 (1) ◽

Cited By ~ 4

Author(s):

Manogari Chetty ◽

Tina Sharon Roberts ◽

Lawrence Stephen ◽

Peter Beighton

Keyword(s):

South Africa ◽

Osteogenesis Imperfecta ◽

Type Iii

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 ◽

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 ◽

Genotype Phenotype Correlation ◽

Col1a2 Gene

Dentinogenesis Imperfecta Associated with Osteogenesis Imperfecta Type I

Journal of Oral Medicine Oral Surgery Oral Pathology and Oral Radiology ◽

10.5958/2395-6194.2015.00011.9 ◽

2015 ◽

Vol 1 (4) ◽

pp. 213

Author(s):

Aditi Agarwal ◽

GP Sujatha ◽

Ashok Lingappa

Keyword(s):

Osteogenesis Imperfecta ◽

Type I ◽

Dentinogenesis Imperfecta ◽

Osteogenesis Imperfecta Type I

Osteogenesis imperfecta type III in South Africa: Psychosocial challenges

South African Medical Journal ◽

10.7196/samj.2016.v106i6.11005 ◽

2016 ◽

Vol 106 (6) ◽

pp. 90 ◽

Cited By ~ 1

Author(s):

L X G Stephen ◽

T Roberts ◽

E Van Hayden ◽

M Chetty

Keyword(s):

South Africa ◽

Osteogenesis Imperfecta ◽

Type Iii ◽

Psychosocial Challenges

On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the Black population of South Africa

Clinical Genetics ◽

10.1111/j.1399-0004.1985.tb02282.x ◽

2008 ◽

Vol 27 (4) ◽

pp. 398-401 ◽

Cited By ~ 27

Author(s):

P. Beighton ◽

G. A. Versfeld

Keyword(s):

South Africa ◽

Osteogenesis Imperfecta ◽

Black Population ◽

Type Iii ◽

Relative Prevalence

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

South African Medical Journal ◽

10.7196/samj.2017.v107i5.9461 ◽

2017 ◽

Vol 107 (5) ◽

pp. 457 ◽

Cited By ~ 4

Author(s):

Alvera Vorster ◽

Peter Beighton ◽

Manogari Chetty ◽

Yasmeen Ganie ◽

Bertram Henderson ◽

...

Keyword(s):

South Africa ◽

Osteogenesis Imperfecta ◽

Type 3