Phenotypic expansion in KIF1A-related disorders: A description of pathogenic variants two Turkish patients

被引：0
|
作者：
Habiloglu, Esra [1 ]
Ceylan, Ahmet Cevdet [1 ,2 ]
Ceylan, Gulay Gulec [1 ,2 ]
Kurt, Aysegul Nese Citak [3 ]
机构：
[1] Ankara City Hosp, Med Genet, Ankara, Turkiye
[2] Ankara Yildirim Beyazit Univ, Med Genet, Ankara, Turkiye
[3] Ankara City Hosp, Neurol Dept, Ankara, Turkiye
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
EP10.058
引用
收藏
页码：203 / 203
页数：1
相关论文
共 50 条
  • [41] Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders
    Lin, Tzu-Yi
    Wu, Pei-Liang
    Kang, Eugene Yu-Chuan
    Chi, Yi-Chun
    Jenny, Laura A.
    Lin, Pei-Hsuan
    Lee, Chia-Ying
    Liu, Chun-Hsiu
    Liu, Laura
    Yeh, Lung-Kun
    Chen, Kuan-Jen
    Hwang, Yih-Shiou
    Wu, Wei-Chi
    Lai, Chi-Chun
    Hsiao, Meng-Chang
    Liu, Pei-Kang
    Wang, Nan-Kai
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (14)
  • [42] BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
    Engel, Camille
    Valence, Stephanie
    Delplancq, Geoffroy
    Maroofian, Reza
    Accogli, Andrea
    Agolini, Emanuele
    Alkuraya, Fowzan S.
    Baglioni, Valentina
    Bagnasco, Irene
    Becmeur-Lefebvre, Mathilde
    Bertini, Enrico
    Borggraefe, Ingo
    Brischoux-Boucher, Elise
    Bruel, Ange-Line
    Brusco, Alfredo
    Bubshait, Dalal K.
    Cabrol, Christelle
    Cilio, Maria Roberta
    Cornet, Marie-Coralie
    Coubes, Christine
    Danhaive, Olivier
    Delague, Valerie
    Denomme-Pichon, Anne-Sophie
    Di Giacomo, Marilena Carmela
    Doco-Fenzy, Martine
    Engels, Hartmut
    Cremer, Kirsten
    Gerard, Marion
    Gleeson, Joseph G.
    Heron, Delphine
    Goffeney, Joanna
    Guimier, Anne
    Harms, Frederike L.
    Houlden, Henry
    Iacomino, Michele
    Kaiyrzhanov, Rauan
    Kamien, Benjamin
    Karimiani, Ehsan Ghayoor
    Kraus, Dror
    Kuentz, Paul
    Kutsche, Kerstin
    Lederer, Damien
    Massingham, Lauren
    Mignot, Cyril
    Morris-Rosendahl, Deborah
    Nagarajan, Lakshmi
    Odent, Sylvie
    Ormieres, Clothilde
    Partlow, Jennifer Neil
    Pasquier, Laurent
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 (09) : 1023 - 1031
  • [43] BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
    Camille Engel
    Stéphanie Valence
    Geoffroy Delplancq
    Reza Maroofian
    Andrea Accogli
    Emanuele Agolini
    Fowzan S. Alkuraya
    Valentina Baglioni
    Irene Bagnasco
    Mathilde Becmeur-Lefebvre
    Enrico Bertini
    Ingo Borggraefe
    Elise Brischoux-Boucher
    Ange-Line Bruel
    Alfredo Brusco
    Dalal K. Bubshait
    Christelle Cabrol
    Maria Roberta Cilio
    Marie-Coralie Cornet
    Christine Coubes
    Olivier Danhaive
    Valérie Delague
    Anne-Sophie Denommé-Pichon
    Marilena Carmela Di Giacomo
    Martine Doco-Fenzy
    Hartmut Engels
    Kirsten Cremer
    Marion Gérard
    Joseph G. Gleeson
    Delphine Heron
    Joanna Goffeney
    Anne Guimier
    Frederike L. Harms
    Henry Houlden
    Michele Iacomino
    Rauan Kaiyrzhanov
    Benjamin Kamien
    Ehsan Ghayoor Karimiani
    Dror Kraus
    Paul Kuentz
    Kerstin Kutsche
    Damien Lederer
    Lauren Massingham
    Cyril Mignot
    Déborah Morris-Rosendahl
    Lakshmi Nagarajan
    Sylvie Odent
    Clothilde Ormières
    Jennifer Neil Partlow
    Laurent Pasquier
    European Journal of Human Genetics, 2023, 31 : 1023 - 1031
  • [44] Identification of two novel pathogenic variants of the NR1H4 gene in intrahepatic cholestasis of pregnancy patients
    Hua Lai
    Xianxian Liu
    Siming Xin
    Jiusheng Zheng
    Huai Liu
    Yu Ouyang
    Huoxiu Yang
    Yang Zeng
    Yang Zou
    Xiaoming Zeng
    BMC Medical Genomics, 15
  • [45] Identification of two novel pathogenic variants of the NR1H4 gene in intrahepatic cholestasis of pregnancy patients
    Lai, Hua
    Liu, Xianxian
    Xin, Siming
    Zheng, Jiusheng
    Liu, Huai
    Ouyang, Yu
    Yang, Huoxiu
    Zeng, Yang
    Zou, Yang
    Zeng, Xiaoming
    BMC MEDICAL GENOMICS, 2022, 15 (01)
  • [46] Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients
    Angwin, Chloe
    Brady, Angela F.
    Colombi, Marina
    Ferguson, David J. P.
    Pollitt, Rebecca
    Pope, F. Michael
    Ritelli, Marco
    Symoens, Sofie
    Ghali, Neeti
    van Dijk, Fleur S.
    GENES, 2019, 10 (10)
  • [47] Two Novel NF1 Pathogenic Variants Causing the Creation of a New Splice Site in Patients With Neurofibromatosis Type I
    Dragos, Vita Setrajcic
    Blatnik, Ana
    Klancar, Gasper
    Stegel, Vida
    Krajc, Mateja
    Blatnik, Olga
    Novakovic, Srdjan
    FRONTIERS IN GENETICS, 2019, 10
  • [48] Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4
    Mingjie Liu
    Linlin Wan
    Chunrong Wang
    Hongyu Yuan
    Yun Peng
    Na Wan
    Zhichao Tang
    Xinrong Yuan
    Daji Chen
    Zhe Long
    Yuting Shi
    Rong Qiu
    Beisha Tang
    Hong Jiang
    Zhao Chen
    Genes & Genomics, 2022, 44 : 1061 - 1070
  • [49] Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4
    Liu, Mingjie
    Wan, Linlin
    Wang, Chunrong
    Yuan, Hongyu
    Peng, Yun
    Wan, Na
    Tang, Zhichao
    Yuan, Xinrong
    Chen, Daji
    Long, Zhe
    Shi, Yuting
    Qiu, Rong
    Tang, Beisha
    Jiang, Hong
    Chen, Zhao
    GENES & GENOMICS, 2022, 44 (09) : 1061 - 1070
  • [50] Investigation of the monocyte diapedesis-related LFA-1 and JAM-A gene variants in Turkish coronary heart disease patients
    Tokat, Bengu
    Kurt, Ozlem
    Bugra, Zehra
    Ozturk, Oguz
    Yilmaz-Aydogan, Hulya
    META GENE, 2014, 2 : 1 - 10
12345