Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
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No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeThe mitotic spindle: linking teratogenic effects of Zika virus with human genetics?Microtubule plus-end tracking proteins in neuronal developmentEvidence for SH2 domain-containing 5'-inositol phosphatase-2 (SHIP2) contributing to a lymphatic dysfunctionGenetics of lymphatic anomaliesProlonged Mitosis of Neural Progenitors Alters Cell Fate in the Developing Brain.Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.Vascular endothelial growth factor receptor-2 promotes the development of the lymphatic vasculature.Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis.Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephalyNew developments in clinical aspects of lymphatic disease.Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.Exome sequencing greatly expedites the progressive research of Mendelian diseases.The lymphatic vasculature: development and role in shaping immunity.Impaired angiogenesis and tumor development by inhibition of the mitotic kinesin Eg5Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.Quantitative Assessment of Microstructural Changes of the Retina in Infants With Congenital Zika Syndrome.Forces and Disease: Electrostatic force differences caused by mutations in kinesin motor domains can distinguish between disease-causing and non-disease-causing mutations.Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedemaThe evolution of cortical development: the synapsid-diapsid divergence.Gli2 Rescues Delays in Brain Development Induced by Kif3a Dysfunction.AKAP95 interacts with nucleoporin TPR in mitosis and is important for the spindle assembly checkpoint.Utilizing lymphatic cell markers to visualize human lymphatic abnormalities.Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.A New Way to Treat Brain Tumors: Targeting Proteins Coded by Microcephaly Genes?: Brain tumors and microcephaly arise from opposing derangements regulating progenitor growth. Drivers of microcephaly could be attractive brain tumor targets.Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literatureA novelKIF11mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous familyRetinal and optic nerve changes in microcephaly: An optical coherence tomography study
P2860
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P2860
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Mutations in KIF11 cause autos ...... phedema and chorioretinopathy.
@ast
Mutations in KIF11 cause autos ...... phedema and chorioretinopathy.
@en
type
label
Mutations in KIF11 cause autos ...... phedema and chorioretinopathy.
@ast
Mutations in KIF11 cause autos ...... phedema and chorioretinopathy.
@en
prefLabel
Mutations in KIF11 cause autos ...... phedema and chorioretinopathy.
@ast
Mutations in KIF11 cause autos ...... phedema and chorioretinopathy.
@en
P2093
P2860
P50
P1476
Mutations in KIF11 cause autos ...... phedema and chorioretinopathy.
@en
P2093
Alexandros Onoufriadis
Amihood Singer
Anthony T Moore
Antonella Mendola
Arash Ghalamkarpour
Fiona C Connell
Glen Brice
Jules G Leroy
Lut van Laer
Martin G Bialer
P2860
P304
P356
10.1016/J.AJHG.2011.12.018
P407
P50
P577
2012-01-26T00:00:00Z