Literature DB >> 25764055

Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11.

Katrina Mears1, Benjamin Bakall1, Lisa A Harney1, Jessica A Penticoff1, Edwin M Stone2.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2015        PMID： 25764055     DOI： 10.1001/jamaophthalmol.2015.199

Source DB:  PubMed          Journal:  JAMA Ophthalmol        ISSN： 2168-6165            Impact factor:   7.389


× No keyword cloud information.
  6 in total

1.  A mouse model for kinesin family member 11 (Kif11)-associated familial exudative vitreoretinopathy.

Authors:  Yanshu Wang; Philip M Smallwood; John Williams; Jeremy Nathans
Journal:  Hum Mol Genet       Date:  2020-05-08       Impact factor: 6.150

2.  Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review.

Authors:  Daniel Martín Fernández-Mayoralas; Jacobo Albert; Sara López-Martín; Mar Jiménez de la Peña; Ana Laura Fernández-Perrone; Ana Jiménez de Domingo; Beatriz Calleja-Pérez; Mónica Martínez-García; Sara Álvarez; Alberto Fernández-Jaén
Journal:  Mol Syndromol       Date:  2021-12-02

3.  KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability.

Authors:  João Vm Malvezzi; Ingrid H Magalhaes; Silvia S Costa; Paulo A Otto; Carla Rosenberg; Debora R Bertola; Walter Lm Fernandes; Angela M Vianna-Morgante; Ana Cv Krepischi
Journal:  Hum Genome Var       Date:  2018-03-29

4.  Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis.

Authors:  Jia-Kai Li; Ping Fei; Yian Li; Qiu-Jing Huang; Qi Zhang; Xiang Zhang; Yu-Qing Rao; Jing Li; Peiquan Zhao
Journal:  Sci Rep       Date:  2016-05-23       Impact factor: 4.379

5.  Retinal and optic nerve changes in microcephaly: An optical coherence tomography study.

Authors:  Eleni Papageorgiou; Anastasia Pilat; Frank Proudlock; Helena Lee; Ravi Purohit; Viral Sheth; Pradeep Vasudevan; Irene Gottlob
Journal:  Neurology       Date:  2018-07-11       Impact factor: 9.910

6.  Identification of a novel mutation in KIF11 with functional analysis in a cohort of 516 familial patients with exudative vitreoretinopathy.

Authors:  Kezhou Wang; Xiang Zhang; Tian Tian; Peiquan Zhao
Journal:  Mol Vis       Date:  2021-09-01       Impact factor: 2.367
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.