Comprehensive Genetic Analysis by Targeted Next Generation Sequencing and Genotype-phenotype Correlation of 47 Japanese Patients with Osteogenesis Imperfecta

被引：0

作者：

Ohata, Yasuhisa ^{[1
,2
]}

Takeyari, Shinji ^{[1
]}

Kitaoka, Taichi ^{[1
]}

Nakayama, Hirofumi ^{[1
,3
]}

Bizaoui, Varoona ^{[1
,4
]}

Nakano, Yukako ^{[1
]}

Yamamoto, Kenichi ^{[1
,5
]}

Miyata, Kei ^{[1
]}

Yamamoto, Keiko ^{[1
,6
]}

Kubota, Takuo ^{[1
]}

Yamamoto, Katsusuke ^{[7
]}

Michigami, Toshimi ^{[8
]}

Yamamoto, Takehisa ^{[9
]}

Ozono, Keiichi ^{[1
]}

机构：

[1] Osaka Univ, Grad Sch Med, Dept Pediat, Suita, Osaka, Japan

[2] Osaka Univ, Grad Sch Med, Dept Oral & Maxillofacial Surg 1, Suita, Osaka, Japan

[3] Osaka Unit Ctr, Japan Environm & Childrens Study, Osaka, Japan

[4] Hop Necker Enfants Malad, Reference Ctr Skeletal Dysplasia, Dept Med Genet, Tokyo, Japan

[5] Osaka Univ, Grad Sch Med, Dept Stat Genet, Suita, Osaka, Japan

[6] Osaka Womens & Childrens Hosp, Dept Bone & Mineral Metab, Izumi, Japan

[7] Osaka Womens & Childrens Hosp, Dept Pediat Nephrol & Metab, Izumi, Japan

[8] Osaka Womens & Childrens Hosp, Dept Bone & Mineral Metab, Izumi, Japan

[9] Minoh City Hosp, Dept Pediat, Mino, Japan

来源：

JOURNAL OF BONE AND MINERAL RESEARCH | 2018年 / 33卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

SUN-1052

引用

页码：301 / 301

页数：1

共 50 条

[1] Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta
Y. Ohata
S. Takeyari
Y. Nakano
T. Kitaoka
H. Nakayama
V. Bizaoui
K. Yamamoto
K. Miyata
K. Yamamoto
M. Fujiwara
T. Kubota
T. Michigami
K. Yamamoto
T. Yamamoto
N. Namba
K. Ebina
H. Yoshikawa
K. Ozono
[J]. Osteoporosis International, 2019, 30 : 2333 - 2342
[2] Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta
Ohata, Y.
Takeyari, S.
Nakano, Y.
Kitaoka, T.
Nakayama, H.
Bizaoui, V.
Yamamoto, K.
Miyata, K.
Fujiwara, M.
Kubota, T.
Michigami, T.
Yamamoto, K.
Yamamoto, T.
Namba, N.
Ebina, K.
Yoshikawa, H.
Ozono, K.
[J]. OSTEOPOROSIS INTERNATIONAL, 2019, 30 (11) : 2333 - 2342
[3] Correction to: Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta
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S. Takeyari
Y. Nakano
T. Kitaoka
H. Nakayama
V. Bizaoui
K. Yamamoto
K. Miyata
K. Yamamoto
M. Fujiwara
T. Kubota
T. Michigami
K. Yamamoto
T. Yamamoto
N. Namba
K. Ebina
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[J]. Osteoporosis International, 2020, 31 : 1185 - 1185
[4] Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing
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Lv, F.
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Jiang, Y.
Wang, O.
Xing, X.
Yu, W.
Wang, J.
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Song, L.
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Li, M.
[J]. OSTEOPOROSIS INTERNATIONAL, 2017, 28 (10) : 2985 - 2995
[5] Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing
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[J]. Osteoporosis International, 2017, 28 : 2985 - 2995
[6] Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta (vol 30, pg 2333, 2019)
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Kubota, T.
Michigami, T.
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D. Asan
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X. Lv
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X. Wang
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[J]. Osteoporosis International, 2018, 29 : 261 - 261
[8] Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta
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[J]. CLINICA CHIMICA ACTA, 2018, 484 : 141 - 147
[9] TARGETED NEXT GENERATION SEQUENCING IN GENETIC DIAGNOSTICS OF OSTEOGENESIS IMPERFECTA
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Asan
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Lv, F.
Xu, X.
Wang, J.
Xia, W.
Jiang, Y.
Wang, O.
Xing, X.
Yu, W.
Wang, J.
Sun, J.
Song, L.
Zhu, Y.
Yang, H.
Wang, J.
Li, M.
[J]. OSTEOPOROSIS INTERNATIONAL, 2018, 29 (01) : 261 - 261

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