CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

(2013) Véronique Darmency-Stamboul et al.   European Journal of Medical Genetics

C5orf42 is the major gene responsible for OFD syndrome type VI

(2013) Estelle Lopez et al.   HUMAN GENETICS

Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation

(2013) Holden Higginbotham et al.   NATURE NEUROSCIENCE

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

(2012) Gordana Juric-Sekhar et al.   ACTA NEUROPATHOLOGICA

OFD1mutations in males: phenotypic spectrum and ciliary basal body docking impairment

(2012) C Thauvin-Robinet et al.   CLINICAL GENETICS

Arl13b in Primary Cilia Regulates the Migration and Placement of Interneurons in the Developing Cerebral Cortex

(2012) Holden Higginbotham et al.   DEVELOPMENTAL CELL

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

(2012) Michael Field et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

(2012) T. R. Webb et al.   HUMAN MOLECULAR GENETICS

Novel Mutations Including Deletions of the EntireOFD1Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

(2012) Izak J. Bisschoff et al.   HUMAN MUTATION

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

(2012) Andrea Poretti et al.   Orphanet Journal of Rare Diseases

Ofd1 Controls Dorso-Ventral Patterning and Axoneme Elongation during Embryonic Brain Development

(2012) Anna D'Angelo et al.   PLoS One

Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients

(2011) A. Poretti et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia

(2011) V Bennouna-Greene et al.   CLINICAL GENETICS

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

Cilia in the CNS: The Quiet Organelle Claims Center Stage

(2011) Angeliki Louvi et al.   NEURON

Neuronal ciliary signaling in homeostasis and disease

(2010) Jill A. Green et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles

(2010) Veena Singla et al.   DEVELOPMENTAL CELL

Somatostatin Signaling in Neuronal Cilia Is Criticalfor Object Recognition Memory

(2010) E. B. Einstein et al.   JOURNAL OF NEUROSCIENCE

New neurons and new memories: how does adult hippocampal neurogenesis affect learning and memory?

(2010) Wei Deng et al.   NATURE REVIEWS NEUROSCIENCE

Normal Cognitive Functions in Joubert Syndrome

(2010) A. Poretti et al.   NEUROPEDIATRICS

Joubert Syndrome and related disorders

(2010) Francesco Brancati et al.   Orphanet Journal of Rare Diseases

The Ciliogenic Protein Oral-Facial-Digital 1 Regulates the Neuronal Differentiation of Embryonic Stem Cells

(2010) Julie Hunkapiller et al.   STEM CELLS AND DEVELOPMENT

Common themes in centriole and centrosome movements

(2010) Sue Vaughan et al.   TRENDS IN CELL BIOLOGY

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

The molecular basis of oral-facial-digital syndrome, type 1

(2009) Marina Macca et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The neuronal primary cilium: Driver of neurogenesis and memory formation in the hippocampal dentate gyrus?

(2009) James F. Whitfield et al.   CELLULAR SIGNALLING

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I

(2009) S Saal et al.   CLINICAL GENETICS

FGF signalling during embryo development regulates cilia length in diverse epithelia

(2009) Judith M. Neugebauer et al.   NATURE

Cerebellar Disorders in Childhood: Cognitive Problems

(2008) Maja Steinlin   CEREBELLUM

Genomic deletions ofOFD1account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

(2008) Christel Thauvin-Robinet et al.   HUMAN MUTATION

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

Primary cilia regulate hippocampal neurogenesis by mediating sonic hedgehog signaling

(2008) J. J. Breunig et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA