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注意：仅列出部分参考文献，下载原文获取全部文献信息。Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions
Seth J. Perlman et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Further evidence that a 100Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients
M. D. Speevak et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
Gaelle Thierry et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
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)
RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex
Shinobu Hirai et al.
EMBO JOURNAL (2012)
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44
Sandesh C. Sreenath Nagamani et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (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)
THE 5′-FLANKING REGION OF THE RP58 CODING SEQUENCE SHOWS PROMINENT PROMOTER ACTIVITY IN MULTIPOLAR CELLS IN THE SUBVENTRICULAR ZONE DURING CORTICOGENESIS
C. Ohtaka-Maruyama et al.
NEUROSCIENCE (2012)
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene
Almuth Caliebe et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2010)
A de novo paradigm for mental retardation
Lisenka E. L. M. Vissers et al.
NATURE GENETICS (2010)
Corpus Callosum Abnormalities and the Controversy about the Candidate Genes Located in 1q44
C. Orellana et al.
CYTOGENETIC AND GENOME RESEARCH (2009)
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis
B. W. M. van Bon et al.
JOURNAL OF MEDICAL GENETICS (2008)
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)
A 2-mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome
Anthony D. Hill et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Delineation of the cryptic 1qter deletion phenotype
J. Lawrence Merritt et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype
Y van Bever et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature
AE Roberts et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
E Rossi et al.
JOURNAL OF MEDICAL GENETICS (2001)
Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
BBA De Vries et al.
JOURNAL OF MEDICAL GENETICS (2001)
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