Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia

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