Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia

被引：0
|
作者：
Fen-Fen Li
Xiu-Feng Huang
Jie Chen
Xu-Dong Yu
Mei-Qin Zheng
Fan Lu
Zi-Bing Jin
De-Kang Gan
机构：
[1] Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science
[2] Eye and ENT Hospital of Fudan University,Department of Ophthalmology
来源：
Journal of Translational Medicine | / 13卷
关键词：
Targeted exome sequencing; Genotype-phenotype; Novel mutations; Achromatopsia; Genetic diagnosis;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [31] Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations
    Accogli, Andrea
    Severino, Mariasavina
    Riva, Antonella
    Madia, Francesca
    Balagura, Ganna
    Iacomino, Michele
    Carlini, Barbara
    Baldassari, Simona
    Giacomini, Thea
    Croci, Carolina
    Pisciotta, Livia
    Messana, Tullio
    Boni, Antonella
    Russo, Angelo
    Bilo, Leonilda
    Tonziello, Rosa
    Coppola, Antonietta
    Filla, Alessamdrp
    Mecarelli, Oriano
    Casalone, Rosario
    Pisani, Francesco
    Falsaperla, Raffaele
    Marino, Silvia
    Parisi, Pasquale
    Feretti, Alessandro
    Elia, Maurizio
    Luchetti, Anna
    Milani, Donatella
    Vanadia, Francesca
    Silvestri, Laura
    Rebessi, Erika
    Parente, Eliana
    Vatti, Giampaolo
    Mancardi, Maria Margherita
    Nobili, Lino
    Capra, Valeria
    Salpietro, Vincenzo
    Striano, Pasquale
    Zara, Federico
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2020, 80 : 145 - 152
  • [32] Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias
    Yuan, Shimin
    Meng, Lanlan
    Zhang, Yanan
    Tu, Chaofeng
    Du, Juan
    Li, Wen
    Liang, Ping
    Lu, Guangxiu
    Tan, Yue-Qiu
    STEROIDS, 2017, 125 : 61 - 66
  • [33] Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries
    Nicole Meier
    Elisabeth Bruder
    Olav Lapaire
    Irene Hoesli
    Anjeung Kang
    Jürgen Hench
    Sylvia Hoeller
    Julie De Geyter
    Peter Miny
    Karl Heinimann
    Rabih Chaoui
    Sevgi Tercanli
    Isabel Filges
    European Journal of Human Genetics, 2019, 27 : 730 - 737
  • [34] Whole-Exome Sequencing Identifies a Novel Genotype-Phenotype Correlation in the Entactin Domain of the Known Deafness Gene TECTA
    Choi, Byung Yoon
    Kim, Jiwoong
    Chung, Juyong
    Kim, Ah Reum
    Mun, Sue Jean
    Kang, Seong Il
    Lee, Sang-Heon
    Kim, Namshin
    Oh, Seung-Ha
    PLOS ONE, 2014, 9 (05):
  • [35] Identification of novel ACAN mutations in two Chinese families and genotype-phenotype correlation in patients with 74 pathogenic ACAN variations
    Wei, Ming
    Ying, Yanqin
    Li, Zhuxi
    Weng, Ying
    Luo, Xiaoping
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (11):
  • [36] Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlations
    Chinni, Elena
    Tiscia, Giovanni
    Favuzzi, Giovanni
    Cappucci, Filomena
    Malcangi, Giuseppe
    Bagna, Rossana
    Izzi, Claudia
    Rizzi, Domenica
    De Stefano, Valerio
    Grandone, Elvira
    BLOOD TRANSFUSION, 2019, 17 (03) : 247 - 254
  • [37] Genotype-Phenotype Correlation in Patients with PRPH2-Mutations
    Maertz, J.
    Gloeckle, N.
    Nentwich, M. M.
    Rudolph, G.
    KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 2015, 232 (03) : 266 - 274
  • [38] Genotype-Phenotype Correlations in Patients with CRB1 Mutations
    Laiou, C. Papadopoulou
    Preising, M. N.
    Bolz, H. J.
    Lorenz, B.
    KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 2017, 234 (03) : 289 - 302
  • [39] Identification of novel mutations in endometrial cancer patients by whole-exome sequencing
    Chang, Ya-Sian
    Huang, Hsien-Da
    Yeh, Kun-Tu
    Chang, Jan-Gowth
    INTERNATIONAL JOURNAL OF ONCOLOGY, 2017, 50 (05) : 1778 - 1784
  • [40] Identification of Novel Mutations by Exome Sequencing in African American Colorectal Cancer Patients
    Ashktorab, Hassan
    Daremipouran, Mohammad
    Devaney, Joe
    Varma, Sudhir
    Rahi, Hamed
    Lee, Edward
    Shokrani, Babak
    Schwartz, Russell
    Nickerson, Michael L.
    Brim, Hassan
    CANCER, 2015, 121 (01) : 34 - 42
12345