PMC Links for OMIM (Select 152950) - PMC

Select item 48764061.

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

Jia-Kai Li, Ping Fei, Yian Li, Qiu-Jing Huang, Qi Zhang, Xiang Zhang, Yu-Qing Rao, Jing Li, Peiquan Zhao

Sci Rep. 2016; 6: 26564. Published online 2016 May 23. doi: 10.1038/srep26564

PMCID:: PMC4876406

Select item 42052002.

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 39383983.

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Gabriela E Jones, Pia Ostergaard, Anthony T Moore, Fiona C Connell, Denise Williams, Oliver Quarrell, Angela F Brady, Isabel Spier, Filiz Hazan, Oana Moldovan, Dagmar Wieczorek, Barbara Mikat, Florence Petit, Christine Coubes, Robert A Saul, Glen Brice, Kristiana Gordon, Steve Jeffery, Peter S Mortimer, Pradeep C Vasudevan, Sahar Mansour

Eur J Hum Genet. 2014 Jul; 22(7): 881–887. Published online 2013 Nov 27. doi: 10.1038/ejhg.2013.263

PMCID:: PMC3938398

Abstract Article PDF–976K

Select item 32766604.

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

Select item 10499535.

Microcephaly, microphthalmos, and retinal folds: report of a family.

I D Young, A R Fielder, K Simpson

J Med Genet. 1987 Mar; 24(3): 172–174. doi: 10.1136/jmg.24.3.172

PMCID:: PMC1049953

Summary Page Browse PDF–685K

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