PMC Articles for MedGen (Select 870365) - PMC

Select item 98589221.

Phenotype-Based Genetic Analysis Reveals Missing Heritability of KIF11-Related Retinopathy: Clinical and Genetic Findings

Haoyu Chang, Xin Zhang, Ke Xu, Nien Li, Yue Xie, Weiyu Yan, Yang Li

Genes (Basel) 2023 Jan; 14(1): 212. Published online 2023 Jan 13. doi: 10.3390/genes14010212

PMCID:: PMC9858922

Abstract Article PDF–3.8M

Select item 97477902.

Kinesin-5 Eg5 is essential for spindle assembly, chromosome stability and organogenesis in development

Wen-Xin Yu, Yu-Kun Li, Meng-Fei Xu, Chen-Jie Xu, Jie Chen, Ya-Lan Wei, Zhen-Yu She

Cell Death Discov. 2022; 8: 490. Published online 2022 Dec 13. doi: 10.1038/s41420-022-01281-1

PMCID:: PMC9747790

Abstract Article PDF–7.1M

Select item 90314423.

Update on the Phenotypic and Genotypic Spectrum of KIF11-Related Retinopathy

You Wang, Zhaotian Zhang, Li Huang, Limei Sun, Songshan Li, Ting Zhang, Xiaoyan Ding

Genes (Basel) 2022 Apr; 13(4): 713. Published online 2022 Apr 18. doi: 10.3390/genes13040713

PMCID:: PMC9031442

Abstract Article PDF–1.0M

Select item 72068554.

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

Yanshu Wang, Philip M Smallwood, John Williams, Jeremy Nathans

Hum Mol Genet. 2020 May 8; 29(7): 1121–1131. Published online 2020 Jan 29. doi: 10.1093/hmg/ddaa018

PMCID:: PMC7206855

Abstract Article PDF–1.6M

Select item 63628575.

A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR

Nilay Güneş, Emre Taşdemir, Heather Jeffery, Hüseyin Yetik, Pia Ostergaard, Beyhan Tüysüz

Mol Syndromol. 2019 Jan; 9(5): 266–270. Published online 2018 Jul 20. doi: 10.1159/000491568

PMCID:: PMC6362857

Abstract Article PDF–606K

Select item 43851816.

Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

Sophie Scheidecker, Christelle Etard, Laurence Haren, Corinne Stoetzel, Sarah Hull, Gavin Arno, Vincent Plagnol, Séverine Drunat, Sandrine Passemard, Annick Toutain, Cathy Obringer, Mériam Koob, Véronique Geoffroy, Vincent Marion, Uwe Strähle, Pia Ostergaard, Alain Verloes, Andreas Merdes, Anthony T. Moore, Hélène Dollfus

Am J Hum Genet. 2015 Apr 2; 96(4): 666–674. doi: 10.1016/j.ajhg.2015.02.011

PMCID:: PMC4385181

Abstract Article PDF–1.5M

Select item 42052007.

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

Ghayda M. Mirzaa, Laura Enyedi, Gretchen Parsons, Sarah Collins, Livija Medne, Carissa Adams, Thomas Ward, Bradley Davitt, Alma Bicknese, Elaine Zackai, Helga Toriello, William B. Dobyns, Susan Christian

Am J Med Genet A. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Am J Med Genet A. 2014 Nov; 164(11): 2879–2886. Published online 2014 Aug 12. doi: 10.1002/ajmg.a.36707

Correction in:: Am J Med Genet A. 2015 Nov 14 : 10.1002/ajmg.a.37449.

PMCID:: PMC4205200

Abstract Article PDF–598K

Select item 32766608.

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Pia Ostergaard, Michael A. Simpson, Antonella Mendola, Pradeep Vasudevan, Fiona C. Connell, Andreas van Impel, Anthony T. Moore, Bart L. Loeys, Arash Ghalamkarpour, Alexandros Onoufriadis, Ines Martinez-Corral, Sophie Devery, Jules G. Leroy, Lut van Laer, Amihood Singer, Martin G. Bialer, Meriel McEntagart, Oliver Quarrell, Glen Brice, Richard C. Trembath, Stefan Schulte-Merker, Taija Makinen, Miikka Vikkula, Peter S. Mortimer, Sahar Mansour, Steve Jeffery

Am J Hum Genet. 2012 Feb 10; 90(2): 356–362. doi: 10.1016/j.ajhg.2011.12.018

PMCID:: PMC3276660

Abstract Article PDF–362K

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