Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
about
Zebrafish: a vertebrate tool for studying basal body biogenesis, structure, and functionThe Seckel syndrome and centrosomal protein Ninein localizes asymmetrically to stem cell centrosomes but is not required for normal development, behavior, or DNA damage response in DrosophilaLINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in MiceInsights from exome sequencing for endocrine disordersA unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientationAdvances in Skeletal Dysplasia GeneticsIdentification of quantitative trait loci and candidate genes for an anxiolytic-like response to ethanol in BXD recombinant inbred strainsCopy number variants in short children born small for gestational age.Primordial dwarfism: overview of clinical and genetic aspects.Scaling of adult regional body mass and body composition as a whole to height: Relevance to body shape and body mass index.Mechanisms of otoconia and otolith developmentMutations in CDK5RAP2 cause Seckel syndromeNOCA-1 functions with γ-tubulin and in parallel to Patronin to assemble non-centrosomal microtubule arrays in C. elegansDiagnostic yield of array CGH in patients with autism spectrum disorder in Hong KongLoss of function of the Drosophila Ninein-related centrosomal protein Bsg25D causes mitotic defects and impairs embryonic developmentTowards identification of molecular mechanisms of short stature.Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex.Ninein is essential for apico-basal microtubule formation and CLIP-170 facilitates its redeployment to non-centrosomal microtubule organizing centres.Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.The new world of clinical genomics.The evolution of cortical development: the synapsid-diapsid divergence.A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size.The Genetics of Brain MalformationsCentrosomal and Non-Centrosomal Microtubule-Organizing Centers (MTOCs) in
P2860
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P2860
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年學術文章
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name
Novel microcephalic primordial ...... he centrosomal protein ninein.
@ast
Novel microcephalic primordial ...... he centrosomal protein ninein.
@en
type
label
Novel microcephalic primordial ...... he centrosomal protein ninein.
@ast
Novel microcephalic primordial ...... he centrosomal protein ninein.
@en
prefLabel
Novel microcephalic primordial ...... he centrosomal protein ninein.
@ast
Novel microcephalic primordial ...... he centrosomal protein ninein.
@en
P2093
P2860
P50
P356
P1476
Novel microcephalic primordial ...... he centrosomal protein ninein.
@en
P2093
Andrew Dauber
Cailin McDeed
Garrett A Kingman
Jeffrey Baron
Joel N Hirschhorn
Jonathan Zonana
Julian C Lui
Matthew P Harris
Ron G Rosenfeld
Stephen H Lafranchi
P2860
P304
P356
10.1210/JC.2012-2150
P407
P577
2012-08-29T00:00:00Z