Targeted/Exome Sequencing Identified Mutations in 55 Chinese Children Diagnosed with Noonan Syndrome and a Autosomal Recessive Form Associated With LZTR1 Variants

被引：0

作者：

Li, Xin ^{[1
]}

Yao, Ruen ^{[1
]}

Chen, Yao ^{[1
]}

Chang, Guoying ^{[1
]}

Ding, Yu ^{[1
]}

Li, Juan ^{[1
]}

Shen, Yiping ^{[2
]}

Wang, Xiumin ^{[1
]}

Wang, Jian ^{[1
]}

机构：

[1] Shanghai Childrens Med Ctr, Shanghai, Peoples R China

[2] Boston Childrens Hosp, Boston, MA USA

来源：

HORMONE RESEARCH IN PAEDIATRICS | 2018年 / 90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：

P2-P264

引用

页码：446 / 446

页数：1

共 37 条

[21] Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing
Min Wang
Dekang Gan
Xin Huang
Gezhi Xu
BMC Ophthalmology, 16
[22] Novel compound heterozygous mutations in CNGA1 in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing
Wang, Min
Gan, Dekang
Huang, Xin
Xu, Gezhi
BMC OPHTHALMOLOGY, 2016, 16
[23] Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing (vol 7,40319,2017)
Wang, Yimin
Du, Xiaonan
Bin, Rao
Yu, Shanshan
Xia, Zhezhi
Zheng, Guo
Zhong, Jianmin
Zhang, Yunjian
Jiang, Yong-hui
Wang, Yi
SCIENTIFIC REPORTS, 2017, 7
[24] Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract
Peng Chen
Hao Chen
Xiao-Jing Pan
Su-Zhen Tang
Yu-Jun Xia
Hui Zhang
International Journal of Ophthalmology, 2018, 11 (10) : 1577 - 1582
[25] Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract
Chen, Peng
Chen, Hao
Pan, Xiao-Jing
Tang, Su-Then
Xia, Yu-Jun
Zhang, Hui
INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 2018, 11 (10) : 1577 - 1582
[26] Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome
Sanna-Cherchi, Simone
Burgess, Katelyn E.
Nees, Shannon N.
Caridi, Gianluca
Weng, Patricia L.
Dagnino, Monica
Bodria, Monica
Carrea, Alba
Allegretta, Maddalena A.
Kim, Hyunjae R.
Perry, Brittany J.
Gigante, Maddalena
Clark, Lorraine N.
Kisselev, Sergey
Cusi, Daniele
Gesualdo, Loreto
Allegri, Landino
Scolari, Francesco
D'Agati, Vivette
Shapiro, Lawrence S.
Pecoraro, Carmine
Palomero, Teresa
Ghiggeri, Gian M.
Gharavi, Ali G.
KIDNEY INTERNATIONAL, 2011, 80 (04) : 389 - 396
[27] Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4–Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies
Xiao-Huan Zou
Xin-Xin Guo
Hui-Zhen Su
Chong Wang
En-Lin Dong
Ning Wang
Wan-Jin Chen
Qi-Jie Zhang
Journal of Molecular Neuroscience, 2019, 68 : 640 - 646
[28] Correction to: Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4–Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies
Xiao-Huan Zou
Xin-Xin Guo
Hui-Zhen Su
Chong Wang
En-Lin Dong
Ning Wang
Wan-Jin Chen
Qi-Jie Zhang
Journal of Molecular Neuroscience, 2020, 70 : 631 - 631
[29] Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies
Zou, Xiao-Huan
Guo, Xin-Xin
Su, Hui-Zhen
Wang, Chong
Dong, En-Lin
Wang, Ning
Chen, Wan-Jin
Zhang, Qi-Jie
JOURNAL OF MOLECULAR NEUROSCIENCE, 2019, 68 (04) : 640 - 646
[30] Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report
Sun, Dan
Liu, Zhimei
Liu, Yongchu
Wu, Miaojuan
Fang, Fang
Deng, Xianbo
Liu, Zhisheng
Song, Liang
Murayama, Kei
Zhang, Chunhua
Zhu, Yuanyuan
BMC MEDICAL GENETICS, 2020, 21 (01)

← 1 2 3 4 →