Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia
出版年份 2012 全文链接
标题
Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia
作者
关键词
-
出版物
ACTA NEUROPATHOLOGICA
Volume 123, Issue 5, Pages 695-709
出版商
Springer Nature
发表日期
2012-02-13
DOI
10.1007/s00401-012-0951-2
参考文献
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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。- Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients
- (2011) A. Poretti et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Interpeduncular Heterotopia in Joubert Syndrome: A Previously Undescribed MR Finding
- (2011) I. Harting et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
- (2011) Liyun Sang et al. CELL
- Molecular Genetics of Neuronal Migration Disorders
- (2011) Judy S. Liu Current Neurology and Neuroscience Reports
- The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders
- (2011) SHIFTEH SATTAR et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1
- (2011) C. A. M. Lopes et al. JOURNAL OF CELL SCIENCE
- Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics
- (2011) Claudia Dafinger et al. JOURNAL OF CLINICAL INVESTIGATION
- KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
- (2011) Audrey Putoux et al. NATURE GENETICS
- A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
- (2011) Francesc R Garcia-Gonzalo et al. NATURE GENETICS
- Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome
- (2011) Madeline A Lancaster et al. NATURE MEDICINE
- Prenatal Magnetic Resonance Imaging Diagnosis of Molar Tooth Sign at 17 to 18 Weeks of Gestation in Two Fetuses at Risk for Joubert Syndrome and Related Cerebellar Disorders
- (2011) S. N. Saleem et al. NEUROPEDIATRICS
- Directional Cell Migration and Chemotaxis in Wound Healing Response to PDGF-AA are Coordinated by the Primary Cilium in Fibroblasts
- (2010) Linda Schneider et al. CELLULAR PHYSIOLOGY AND BIOCHEMISTRY
- Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles
- (2010) Veena Singla et al. DEVELOPMENTAL CELL
- Uncommon Syndromes of Cerebellar Vermis Aplasia. I: Joubert Syndrome
- (2010) R. L. Friede et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
- (2010) Enza Maria Valente et al. NATURE GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Joubert Syndrome and related disorders
- (2010) Francesco Brancati et al. Orphanet Journal of Rare Diseases
- OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
- (2009) Karlien L.M. Coene et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Joubert syndrome with bilateral polymicrogyria: Clinical and neuropathological findings in two brothers
- (2009) L. Giordano et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders
- (2009) S.N. Saleem et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Development of the Human Cerebellum and Its Disorders
- (2009) Hans J. ten Donkelaar et al. CLINICS IN PERINATOLOGY
- Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
- (2009) D. Doherty et al. JOURNAL OF MEDICAL GENETICS
- GPR56-Regulated Granule Cell Adhesion Is Essential for Rostral Cerebellar Development
- (2009) S. Koirala et al. JOURNAL OF NEUROSCIENCE
- Real time analysis of pontine neurons during initial stages of nucleogenesis
- (2009) Haruyasu Watanabe et al. NEUROSCIENCE RESEARCH
- Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease
- (2009) Dan Doherty Seminars in Pediatric Neurology
- CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
- (2008) Nicholas T. Gorden et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Prenatal and Neonatal MR Imaging Findings in Oral-Facial-Digital Syndrome Type VI
- (2008) A. Poretti et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Cerebellar development and disease
- (2008) Kathleen J Millen et al. CURRENT OPINION IN NEUROBIOLOGY
- Wnt signaling determines ventral spinal cord cell fates in a time-dependent manner
- (2008) W. Yu et al. DEVELOPMENT
- Combinatorial signalling controls Neurogenin2 expression at the onset of spinal neurogenesis
- (2008) Vanessa Ribes et al. DEVELOPMENTAL BIOLOGY
- Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool
- (2008) N. Spassky et al. DEVELOPMENTAL BIOLOGY
- Intraflagellar transport, cilia, and mammalian Hedgehog signaling: Analysis in mouse embryonic fibroblasts
- (2008) Polloneal Jymmiel R. Ocbina et al. DEVELOPMENTAL DYNAMICS
- An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature
- (2008) Takaki Ishikawa et al. FORENSIC SCIENCE INTERNATIONAL
- Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients
- (2008) Clelia Prattichizzo et al. HUMAN MUTATION
- Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells
- (2008) Young-Goo Han et al. NATURE NEUROSCIENCE
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