Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients

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 ◽

Symmetry of folds in FEVR: A genotype-phenotype correlation study

Experimental Eye Research ◽

10.1016/j.exer.2019.107720 ◽

2019 ◽

Vol 186 ◽

pp. 107720

Author(s):

Zhirong Wang ◽

Chonglin Chen ◽

Limei Sun ◽

Aiyuan Zhang ◽

Chengxi Liu ◽

...

Keyword(s):

Correlation Study ◽

Phenotype Correlation ◽

Loss of succinate dehydrogenase subunit B (SDHB) expression is limited to a distinctive subset of gastric wild-type gastrointestinal stromal tumours: a comprehensive genotype-phenotype correlation study

Histopathology ◽

10.1111/j.1365-2559.2012.04300.x ◽

2012 ◽

Vol 61 (5) ◽

pp. 801-809 ◽

Cited By ~ 66

Author(s):

Leona A Doyle ◽

Dylan Nelson ◽

Michael C Heinrich ◽

Christopher L Corless ◽

Jason L Hornick

Keyword(s):

Succinate Dehydrogenase ◽

Correlation Study ◽

Wild Type ◽

Gastrointestinal Stromal Tumours ◽

Phenotype Correlation ◽

Succinate Dehydrogenase Subunit B ◽

Subunit B

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

Involvement of MRE11A and XPA gene polymorphisms in the modulation of DNA double-strand break repair activity: A genotype–phenotype correlation study

DNA Repair ◽

10.1016/j.dnarep.2011.08.003 ◽

2011 ◽

Vol 10 (10) ◽

pp. 1044-1050 ◽

Cited By ~ 12

Author(s):

Fulvio Ricceri ◽

Paola Porcedda ◽

Alessandra Allione ◽

Valentina Turinetto ◽

Silvia Polidoro ◽

...

Keyword(s):

Gene Polymorphisms ◽

Strand Break ◽

Correlation Study ◽

Double Strand Break ◽

Double Strand Break Repair ◽

Phenotype Correlation ◽

Dna Double Strand Break ◽

Repair Activity ◽

Break Repair

Loss of succinate dehydrogenase subunit B (SDHB) expression is limited to a distinctive subset of gastric wild-type gastrointestinal stromal tumours: a comprehensive genotype–phenotype correlation study

Yearbook of Pathology and Laboratory Medicine ◽

10.1016/j.ypat.2012.10.009 ◽

2013 ◽

Vol 2013 ◽

pp. 143-144

Author(s):

S.S. Raab

Keyword(s):

Succinate Dehydrogenase ◽

Correlation Study ◽

Wild Type ◽

Gastrointestinal Stromal Tumours ◽

Phenotype Correlation ◽

Succinate Dehydrogenase Subunit B ◽

Subunit B

Genetic variants of the APE1 gene and the risk of vitiligo in a Chinese population: A genotype–phenotype correlation study

Free Radical Biology and Medicine ◽

10.1016/j.freeradbiomed.2013.01.009 ◽

2013 ◽

Vol 58 ◽

pp. 64-72 ◽

Cited By ~ 8

Author(s):

Chao Wei ◽

Zhe Jian ◽

Lin Wang ◽

Huini Qiang ◽

Qiong Shi ◽

...

Keyword(s):

Genetic Variants ◽

Chinese Population ◽

Correlation Study ◽

Phenotype Correlation ◽

Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9)

Ear and Hearing ◽

10.1097/aud.0000000000001099 ◽

2021 ◽

Vol Publish Ahead of Print ◽

Author(s):

Sebastien P. F. JanssensdeVarebeke ◽

Julie Moyaert ◽

Erik Fransen ◽

Britt Bulen ◽

Celine Neesen ◽

...

Keyword(s):

Correlation Study ◽

Large Series ◽

Phenotype Correlation ◽

A genotype-phenotype correlation study reveals that a non-coding RNA might be associated with cardiovascular anomalies in fetuses with WHS

Prenatal Diagnosis ◽

10.1002/pd.4884 ◽

2016 ◽

Vol 36 (10) ◽

pp. 979-981 ◽

Cited By ~ 1

Author(s):

Yi Wu ◽

Jiong Tao ◽

Yan-Lin Wang ◽

Wen-Jing Hu ◽

Xu Han ◽

...

Keyword(s):

Correlation Study ◽

Phenotype Correlation ◽

Non Coding Rna ◽

Cardiovascular Anomalies

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 ◽