Related references
Note: Only part of the references are listed.RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion
C. Xiang et al.
CELL DEATH AND DIFFERENTIATION (2012)
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
Blake C. Ballif et al.
HUMAN GENETICS (2012)
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Jean-Baptiste Riviere et al.
NATURE GENETICS (2012)
Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations
Annapurna Poduri et al.
NEURON (2012)
Akt signalling in health and disease
Ingeborg Hers et al.
CELLULAR SIGNALLING (2011)
A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice
Satoko Tokuda et al.
HUMAN MOLECULAR GENETICS (2011)
Trisomy (1q) (q42→qter): confirmation of a syndrome
N. L. Chia et al.
CLINICAL GENETICS (2010)
Pure segmental trisomy 1q42-qter in a boy with a severe phenotype
Antonio Percesepe et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum
Elena Boland et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Duplication dup(1)(q41q44) defined by fluorescence in situ hybridization: delineation of the 'trisomy 1q42 -> qter syndrome'
M. C. Cocce et al.
CYTOGENETIC AND GENOME RESEARCH (2007)
Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH):: Further delineation of trisomies 1q
C Bartsch et al.
FETAL DIAGNOSIS AND THERAPY (2001)
Monosomy and trisomy 1q44-qter in two sisters originating from a half cryptic 1q;15p translocation
N Villa et al.
JOURNAL OF MEDICAL GENETICS (2000)
Share Paper
