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注意：仅列出部分参考文献，下载原文获取全部文献信息。Ciliopathies and the Kidney: A Review
Dominique J. McConnachie et al.
AMERICAN JOURNAL OF KIDNEY DISEASES (2021)
Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia
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EUROPEAN JOURNAL OF MEDICAL GENETICS (2021)
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SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2020)
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Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
Carine Bonnard et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2018)
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
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NATURE REVIEWS MOLECULAR CELL BIOLOGY (2017)
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies
Jens Koenig et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)
Molecular genetic analysis of 30 families with Joubert syndrome
T. Suzuki et al.
CLINICAL GENETICS (2016)
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
R. Bachmann-Gagescu et al.
JOURNAL OF MEDICAL GENETICS (2015)
C5orf42 is the major gene responsible for OFD syndrome type VI
Estelle Lopez et al.
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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
Miriam Schmidts et al.
JOURNAL OF MEDICAL GENETICS (2013)
Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population
Myriam Srour et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
Joyce El Hokayem et al.
JOURNAL OF MEDICAL GENETICS (2012)
Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies
Miriam Iannicelli et al.
HUMAN MUTATION (2010)
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
D. Doherty et al.
JOURNAL OF MEDICAL GENETICS (2010)
MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement
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HUMAN MUTATION (2009)
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3
Mark B. Consugar et al.
HUMAN GENETICS (2007)
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
Lekbir Baala et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Nodal flow and the generation of left-right asymmetry
N Hirokawa et al.
CELL (2006)
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
UM Smith et al.
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Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI
D Doherty et al.
PRENATAL DIAGNOSIS (2005)
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