Mutations inCEP120cause Joubert syndrome as well as complex ciliopathy phenotypes

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

(2015) Caroline Alby et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KIAA0586is Mutated in Joubert Syndrome

(2015) Ruxandra Bachmann-Gagescu et al.   HUMAN MUTATION

Mutations in human homologue of chickentalpid3gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

(2015) May Christine V Malicdan et al.   JOURNAL OF MEDICAL GENETICS

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

(2015) R Bachmann-Gagescu et al.   JOURNAL OF MEDICAL GENETICS

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

(2015) Louise A Stephen et al.   eLife

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

(2015) Susanne Roosing et al.   eLife

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

(2014) Marta Romani et al.   HUMAN GENETICS

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

(2014) Ranad Shaheen et al.   HUMAN MOLECULAR GENETICS

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

(2014) Ennio Del Giudice et al.   Orphanet Journal of Rare Diseases

Talpid3-Binding Centrosomal Protein Cep120 Is Required for Centriole Duplication and Proliferation of Cerebellar Granule Neuron Progenitors

(2014) Chuanqing Wu et al.   PLoS One

Mutations in CSPP1 Lead to Classical Joubert Syndrome

(2013) Naiara Akizu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

(2013) Karina Tuz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans

(2013) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

C5orf42 is the major gene responsible for OFD syndrome type VI

(2013) Estelle Lopez et al.   HUMAN GENETICS

CEP120 interacts with CPAP and positively regulates centriole elongation

(2013) Yi-Nan Lin et al.   JOURNAL OF CELL BIOLOGY

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

(2013) Marta Romani et al.   LANCET NEUROLOGY

Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development

(2013) Amy R Barker et al.   Organogenesis

TCTN3 Mutations Cause Mohr-Majewski Syndrome

(2012) Sophie Thomas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

(2012) Ranad Shaheen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

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

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

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Tecto-cerebellar Dysraphism with Occipital Encephalocele: Not a Distinct Disorder, but Part of the Joubert Syndrome Spectrum?

(2011) A. Poretti et al.   NEUROPEDIATRICS

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Uncommon Syndromes of Cerebellar Vermis Aplasia. I: Joubert Syndrome

(2010) R. L. Friede et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly

(2010) Moe R. Mahjoub et al.   JOURNAL OF CELL BIOLOGY

Tectocerebellar Dysraphism With Vermian Encephalocele

(2010) Ihsan Anik et al.   JOURNAL OF CHILD NEUROLOGY

Centrosome Motility Is Essential for Initial Axon Formation in the Neocortex

(2010) F. C. de Anda et al.   JOURNAL OF NEUROSCIENCE

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

(2010) Enza Maria Valente et al.   NATURE GENETICS

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

(2010) Carrie M Louie et al.   NATURE GENETICS

Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease

(2009) Dan Doherty   Seminars in Pediatric Neurology

MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

(2008) Francesco Brancati et al.   HUMAN MUTATION

Tectocerebellar Dysraphia and Occipital Encephalocele: An Unusual Association with Abdominal Situs Inversus and Congenital Heart Disease

(2008) Sriram Krishnamurthy et al.   INDIAN JOURNAL OF PEDIATRICS

New concepts on posterior fossa malformations

(2008) Tim Jaspan   PEDIATRIC RADIOLOGY