Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
暂无分享,去创建一个
C. Fallet-Bianco | D. Labuda | H. Mandel | B. Brais | N. Katsanis | D. Goldsher | E. Lemyre | G. Rouleau | K. Boycott | F. Hamdan | A. Dionne‐Laporte | J. Majewski | B. Maranda | J. Schwartzentruber | C. Massicotte | J. Michaud | O. Elpeleg | M. Srour | C. Nassif | L. Patry | D. McKnight | J. Soucy | R. Laframboise | E. Davis | S. Shalev | Renée-Myriam Boucher | L. Ospina | A. Laberge | F. Rypens | J. Décarie | M. Kukolich | C. Maftei | B. Martin | Lysanne Patry | Christina Nassif | Alexandre Dionne‐Laporte | E. Davis
[1] J. Shendure,et al. KIAA0586 is Mutated in Joubert Syndrome , 2015, Human mutation.
[2] J. Shendure,et al. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity , 2015, Journal of Medical Genetics.
[3] W. Chung,et al. Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination , 2015, Journal of Medical Genetics.
[4] Colin A. Johnson,et al. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome , 2015, eLife.
[5] W. Kloosterman,et al. Joubert syndrome: genotyping a Northern European patient cohort , 2015, European Journal of Human Genetics.
[6] P. Cullen,et al. A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration , 2015, neurogenetics.
[7] D. Valle,et al. New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web‐Based Tool for Linking Investigators with an Interest in the Same Gene , 2015, Human mutation.
[8] Pieter B. T. Neerincx,et al. Supplementary Information Whole-genome sequence variation , population structure and demographic history of the Dutch population , 2022 .
[9] A. Munnich,et al. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation , 2014, Nature Genetics.
[10] T. Mazza,et al. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome , 2014, Orphanet Journal of Rare Diseases.
[11] J. Reiter,et al. C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals , 2014, Proceedings of the National Academy of Sciences.
[12] J. Shendure,et al. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. , 2014, American journal of human genetics.
[13] Colin A. Johnson,et al. Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. , 2014, American journal of human genetics.
[14] S. Gabriel,et al. Mutations in CSPP1 lead to classical Joubert syndrome. , 2014, American journal of human genetics.
[15] J. Rosenbaum,et al. Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly , 2013, Journal of Cell Science.
[16] E. Valente,et al. Joubert syndrome: congenital cerebellar ataxia with the molar tooth , 2013, The Lancet Neurology.
[17] B. Dynlacht,et al. CP110 and its network of partners coordinately regulate cilia assembly , 2013, Cilia.
[18] Norman E. Davey,et al. A Proteome-wide Screen for Mammalian SxIP Motif-Containing Microtubule Plus-End Tracking Proteins , 2012, Current Biology.
[19] D. Labuda,et al. Mutations in TMEM231 cause Joubert syndrome in French Canadians , 2012, Journal of Medical Genetics.
[20] J. Veltman,et al. De novo mutations in human genetic disease , 2012, Nature Reviews Genetics.
[21] Colin A. Johnson,et al. The transition zone: an essential functional compartment of cilia , 2012, Cilia.
[22] D. Labuda,et al. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. , 2012, American journal of human genetics.
[23] J. Shah,et al. The ciliary transition zone: from morphology and molecules to medicine. , 2012, Trends in cell biology.
[24] Colin A. Johnson,et al. Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus , 2012, Science.
[25] Colin A. Johnson,et al. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium , 2011, Nature Genetics.
[26] Ben Chih,et al. A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain , 2011, Nature Cell Biology.
[27] Colin A. Johnson,et al. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. , 2011, American journal of human genetics.
[28] Kym M Boycott,et al. Mutations in NOTCH2 in families with Hajdu‐Cheney syndrome , 2011, Human mutation.
[29] H. Zentgraf,et al. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. , 2011, The Journal of clinical investigation.
[30] J. García-Verdugo,et al. A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition , 2011, Nature Genetics.
[31] Matthew J. Brauer,et al. Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways , 2011, Cell.
[32] Emma Lundberg,et al. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods , 2011, The EMBO journal.
[33] Colin A. Johnson,et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum , 2011, Nature Genetics.
[34] Colin A. Johnson,et al. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy , 2010, Journal of Medical Genetics.
[35] F. Coppieters,et al. CEP290, a gene with many faces: mutation overview and presentation of CEP290base , 2010, Human mutation.
[36] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[37] H. Hakonarson,et al. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.
[38] Colin A. Johnson,et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes , 2010, Nature Genetics.
[39] G. Hannon,et al. Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. , 2010, American journal of human genetics.
[40] Carolyn M Hutter,et al. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. , 2008, American journal of human genetics.
[41] V. Malhotra,et al. CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease. , 2008, Developmental cell.
[42] Colin A. Johnson,et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. , 2008, American journal of human genetics.
[43] Andrew D Paterson,et al. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. , 2008, American journal of human genetics.
[44] G. Neri,et al. Oral–facial–digital syndromes: Review and diagnostic guidelines , 2007, American journal of medical genetics. Part A.
[45] A. Spektor,et al. Cep97 and CP110 Suppress a Cilia Assembly Program , 2007, Cell.
[46] Colin A. Johnson,et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome , 2007, Nature Genetics.
[47] I. Glass,et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome , 2007, Nature Genetics.
[48] Yan Liu,et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 , 2006, Nature Genetics.
[49] Madeline A. Lancaster,et al. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome , 2006, Nature Genetics.
[50] H. Kayserili,et al. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. , 2004, American journal of human genetics.
[51] I. Glass,et al. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. , 2004, American journal of human genetics.
[52] F. Andermann,et al. Familial Agenesis of the Cerebellar Vermis: A Syndrome of Episodic Hyperpnea, Abnormal Eye Movements, Ataxia, and Retardation , 1999, Neurology.
[53] R. Tusa,et al. "Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation , 1997, Journal of child neurology.
[54] E. Valente,et al. Primary cilia in neurodevelopmental disorders , 2014, Nature Reviews Neurology.
[55] Colin A. Johnson,et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. , 2007, American journal of human genetics.