Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities
about
Growth and folding of the mammalian cerebral cortex: from molecules to malformationsThe genetics of lissencephaly.Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyMorphological and functional aspects of progenitors perturbed in cortical malformations.Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets.A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1.Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features.LAMB1 polymorphism is associated with autism symptom severity in Korean autism spectrum disorder patients.Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?Developing guinea pig brain as a model for cortical folding.The evolution of cortical development: the synapsid-diapsid divergence.Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins.Development of brain ventricular system.GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients.Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.Lens extrusion from Laminin alpha 1 mutant zebrafishMalformations of cortical development and epilepsyThe Genetics of Brain Malformations
P2860
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P2860
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities
description
2013 nî lūn-bûn
@nan
2013 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մարտին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Mutations in LAMB1 cause cobbl ...... scular or ocular abnormalities
@ast
Mutations in LAMB1 cause cobbl ...... scular or ocular abnormalities
@en
Mutations in LAMB1 cause cobbl ...... scular or ocular abnormalities
@en-gb
Mutations in LAMB1 cause cobbl ...... scular or ocular abnormalities
@nl
type
label
Mutations in LAMB1 cause cobbl ...... scular or ocular abnormalities
@ast
Mutations in LAMB1 cause cobbl ...... scular or ocular abnormalities
@en
Mutations in LAMB1 cause cobbl ...... scular or ocular abnormalities
@en-gb
Mutations in LAMB1 cause cobbl ...... scular or ocular abnormalities
@nl
prefLabel
Mutations in LAMB1 cause cobbl ...... scular or ocular abnormalities
@ast
Mutations in LAMB1 cause cobbl ...... scular or ocular abnormalities
@en
Mutations in LAMB1 cause cobbl ...... scular or ocular abnormalities
@en-gb
Mutations in LAMB1 cause cobbl ...... scular or ocular abnormalities
@nl
P2093
P2860
P50
P921
P1476
Mutations in LAMB1 cause cobbl ...... scular or ocular abnormalities
@en
P2093
Ahmet Okay Caglayan
Başak Rosti
Cahide Yilmaz
Farid Radmanesh
Hande Kaymakcalan
Jennifer L Silhavy
Mingfeng Li
Murat Gunel
Tarek Omar
P2860
P304
P356
10.1016/J.AJHG.2013.02.005
P407
P50
P577
2013-03-07T00:00:00Z