Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
about
Molecular underpinnings of prefrontal cortex development in rodents provide insights into the etiology of neurodevelopmental disordersIdentification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control populationThe genetics of lissencephaly.Malformations of cortical development: genetic mechanisms and diagnostic approachClinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly.TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.Interaction between Reelin and Notch signaling regulates neuronal migration in the cerebral cortex.Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephalyMalformations of cortical development: clinical features and genetic causesThe very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patientsEpilepsy as a neurodevelopmental disorder.Cortical dysplasia: a possible substrate for brain tumors.A Complex Interaction Between Reduced Reelin Expression and Prenatal Organophosphate Exposure Alters Neuronal Cell Morphology.Transcriptomic signatures of neuronal differentiation and their association with risk genes for autism spectrum and related neuropsychiatric disorders.A developmental and genetic classification for midbrain-hindbrain malformations.Homozygosity for constitutional chromosomal rearrangements: a systematic review with reference to origin, ascertainment and phenotype.Genetic regulation of human brain development: lessons from Mendelian diseases.Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.Towards the identification of a genetic basis for Landau-Kleffner syndrome.Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features.The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations.Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts.The de novo autism spectrum disorder RELN R2290C mutation reduces Reelin secretion and increases protein disulfide isomerase expression.RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.
P2860
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P2860
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
description
2007 nî lūn-bûn
@nan
2007年の論文
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2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Identification of a novel rece ...... nced reciprocal translocation.
@en
Identification of a novel rece ...... nced reciprocal translocation.
@nl
type
label
Identification of a novel rece ...... nced reciprocal translocation.
@en
Identification of a novel rece ...... nced reciprocal translocation.
@nl
prefLabel
Identification of a novel rece ...... nced reciprocal translocation.
@en
Identification of a novel rece ...... nced reciprocal translocation.
@nl
P2093
P50
P356
P1476
Identification of a novel rece ...... nced reciprocal translocation.
@en
P2093
Alice Abd El-Aleem
Hajira B Koeller
M Elizabeth Ross
Yesim Ilkin
P304
P356
10.1002/AJMG.A.31667
P407
P577
2007-05-01T00:00:00Z