标题
Mutations inCEP120cause Joubert syndrome as well as complex ciliopathy phenotypes
作者
关键词
-
出版物
JOURNAL OF MEDICAL GENETICS
Volume 53, Issue 9, Pages 608-615
出版商
BMJ
发表日期
2016-05-07
DOI
10.1136/jmedgenet-2016-103832
参考文献
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。- 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
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now