相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。C5orf42 is the major gene responsible for OFD syndrome type VI
Estelle Lopez et al.
HUMAN GENETICS (2014)
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment
C. Thauvin-Robinet et al.
CLINICAL GENETICS (2013)
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome
Veronique Darmency-Stamboul et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2013)
Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability
Izak J. Bisschoff et al.
HUMAN MUTATION (2013)
Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation
Holden Higginbotham et al.
NATURE NEUROSCIENCE (2013)
Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia
Gordana Juric-Sekhar et al.
ACTA NEUROPATHOLOGICA (2012)
Arl13b in Primary Cilia Regulates the Migration and Placement of Interneurons in the Developing Cerebral Cortex
Holden Higginbotham et al.
DEVELOPMENTAL CELL (2012)
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
Michael Field et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
Tom R. Webb et al.
HUMAN MOLECULAR GENETICS (2012)
Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI
Andrea Poretti et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
Ofd1 Controls Dorso-Ventral Patterning and Axoneme Elongation during Embryonic Brain Development
Anna D'Angelo et al.
PLOS ONE (2012)
Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients
A. Poretti et al.
AMERICAN JOURNAL OF NEURORADIOLOGY (2011)
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia
V. Bennouna-Greene et al.
CLINICAL GENETICS (2011)
Molecular Genetics of Neuronal Migration Disorders
Judy S. Liu
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2011)
The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders
Shifteh Sattar et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2011)
Cilia in the CNS: The Quiet Organelle Claims Center Stage
Angeliki Louvi et al.
NEURON (2011)
The Ciliogenic Protein Oral-Facial-Digital 1 Regulates the Neuronal Differentiation of Embryonic Stem Cells
Julie Hunkapiller et al.
STEM CELLS AND DEVELOPMENT (2011)
Common themes in centriole and centrosome movements
Sue Vaughan et al.
TRENDS IN CELL BIOLOGY (2011)
Neuronal ciliary signaling in homeostasis and disease
Jill A. Green et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2010)
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
S. Saal et al.
CLINICAL GENETICS (2010)
Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles
Veena Singla et al.
DEVELOPMENTAL CELL (2010)
Somatostatin Signaling in Neuronal Cilia Is Critical for Object Recognition Memory
Emily B. Einstein et al.
JOURNAL OF NEUROSCIENCE (2010)
New neurons and new memories: how does adult hippocampal neurogenesis affect learning and memory?
Wei Deng et al.
NATURE REVIEWS NEUROSCIENCE (2010)
Joubert Syndrome and related disorders
Francesco Brancati et al.
ORPHANET JOURNAL OF RARE DISEASES (2010)
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
Karlien L. M. Coene et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
The Molecular Basis of Oral-Facial-Digital Syndrome, Type 1
Marina Macca et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2009)
The neuronal primary cilium: Driver of neurogenesis and memory formation in the hippocampal dentate gyrus?
James F. Whitfield et al.
CELLULAR SIGNALLING (2009)
Genomic Deletions of OFD1 Account for 23% of Oral-facial-digital Type 1 Syndrome After Negative DNA Sequencing
Christel Thauvin-Robinet et al.
HUMAN MUTATION (2009)
FGF signalling during embryo development regulates cilia length in diverse epithelia
Judith M. Neugebauer et al.
NATURE (2009)
Normal Cognitive Functions in Joubert Syndrome
A. Poretti et al.
NEUROPEDIATRICS (2009)
Cerebellar Disorders in Childhood: Cognitive Problems
Maja Steinlin
CEREBELLUM (2008)
Mutational Spectrum of the Oral-Facial-Digital Type I Syndrome: A Study on a Large Collection of Patients
Clelia Prattichizzo et al.
HUMAN MUTATION (2008)
Primary cilia regulate hippocampal neurogenesis by mediating sonic hedgehog signaling
Joshua J. Breunig et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms
Kevin C. Corbit et al.
NATURE CELL BIOLOGY (2008)
Improving sequence variant descriptions in mutation Databases and literature using the mutalyzer sequence variation nomenclature checker
Martin Wildeman et al.
HUMAN MUTATION (2008)
Research review oral-facial-digital syndromes: Review and diagnostic guidelines
Fiorella Gurrieri et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with Subunits of a chromatin remodeling complex
Giovanna Giorgio et al.
MOLECULAR BIOLOGY OF THE CELL (2007)
Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C→T mutation in the mitochondrial 12S rRNA gene
M. Rodriguez-Ballesteros et al.
JOURNAL OF MEDICAL GENETICS (2006)
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
Bartlomiej Budny et al.
HUMAN GENETICS (2006)
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification
MI Ferrante et al.
NATURE GENETICS (2006)
X-inactivation and human disease: X-linked dominant male-lethal disorders
Brunella Franco et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2006)
OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells
L Romio et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2003)
Identification of the gene for oral-facial-digital type I syndrome
MI Ferrante et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
分享论文
