Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.
about
Cytochrome P450 20A1 in zebrafish: Cloning, regulation and potential involvement in hyperactivity disordersGenes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.Further delineation of the SATB2 phenotype.Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontiaDiscovery of candidate genes for nonsyndromic cleft lip palate through genome-wide linkage analysis of large extended families in the Malay population.Mutual regulation between Satb2 and Fezf2 promotes subcerebral projection neuron identity in the developing cerebral cortexDisruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.2q31.1 microdeletion syndrome: case report and literature review.Satb2 Ablation Impairs Hippocampus-Based Long-Term Spatial Memory and Short-Term Working Memory and Immediate Early Genes (IEGs)-Mediated Hippocampal Synaptic Plasticity.Satb2 Is Required for the Development of a Spinal Exteroceptive Microcircuit that Modulates Limb Position.Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1.Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes.First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome.Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.Infantile spasms are associated with abnormal copy number variations.SATB2 suppresses the progression of colorectal cancer cells via inactivation of MEK5/ERK5 signaling.Challenges in non-invasive prenatal screening for sub-chromosomal copy number variations using cell-free DNA.SATB2-associated syndrome presenting with Rett-like phenotypes.Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell HyperproliferationDeletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism
P2860
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P2860
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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name
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.
@en
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.
@nl
type
label
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.
@en
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.
@nl
prefLabel
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.
@en
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.
@nl
P2093
P50
P356
P1476
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype
@en
P2093
C J Harris
E H Zackai
E J Taylor
G C Gowans
J A Rosenfeld
L Cresswell
M F Feingold
P304
P356
10.1136/JMG.2010.084491
P407
P577
2011-02-22T00:00:00Z