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。Healthcare recommendations for Joubert syndrome
Ruxandra Bachmann-Gagescu et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome
Minna Luo et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2019)
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
Thierry Vilboux et al.
GENETICS IN MEDICINE (2017)
Genes and molecular pathways underpinning ciliopathies
Jeremy F. Reiter et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2017)
Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances
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FRONTIERS IN PEDIATRICS (2017)
Mortality in Joubert syndrome
Jennifer C. Dempsey et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
Gisela G. Slaats et al.
JOURNAL OF MEDICAL GENETICS (2016)
Hypomorphic MKS1 Mutation in a Pakistani Family with Mild Joubert Syndrome and Atypical Features: Expanding the Phenotypic Spectrum of MKS1-Related Ciliopathies
Irfanullah et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum
Ingrid Bader et al.
European Journal of Medical Genetics (2016)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
R. Bachmann-Gagescu et al.
JOURNAL OF MEDICAL GENETICS (2015)
Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks
Amy R. Barker et al.
BMC GENOMICS (2014)
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
Marta Romani et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain
Ben Chih et al.
NATURE CELL BIOLOGY (2012)
Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome
William E. Dowdle et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
Liyun Sang et al.
CELL (2011)
Modeling Human Disease in Humans: The Ciliopathies
Gaia Novarino et al.
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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)
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
Francesc R. Garcia-Gonzalo et al.
NATURE GENETICS (2011)
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Friedhelm Hildebrandt et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
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NATURE GENETICS (2010)
Joubert Syndrome and related disorders
Francesco Brancati et al.
ORPHANET JOURNAL OF RARE DISEASES (2010)
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
Helen R. Dawe et al.
HUMAN MOLECULAR GENETICS (2007)
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
Lekbir Baala et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome
M Kyttälä et al.
NATURE GENETICS (2006)
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