Condition: Familial aplasia of the vermis


rs371637724 in AHI1 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 16453322 2006 AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

PMID 16155189 2006 AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

rs143149764 in B9D1 gene and Familial aplasia of the vermis PMID 21493627 2011 B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs757863670 in B9D2 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs750436680 in B9D2;TGFB1 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs150291837 in C2CD3 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs200407856 in CC2D2A gene and Familial aplasia of the vermis PMID 19777577 2009 CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

PMID 26485645 2015 The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 23012439 2012 Mutations in TMEM231 cause Joubert syndrome in French Canadians.

PMID 22241855 2012 Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

PMID 26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

PMID 18950740 2008 CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

PMID 27082236 2015 Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs.

PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

PMID 19466712 2009 Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

PMID 26673778 2016 Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

rs1060499781 in CEP290 gene and Familial aplasia of the vermis PMID 17345604 2007 Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

PMID 16909394 2006 Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

PMID 20690115 2010 CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

PMID 21153841 2011 Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.

PMID 23351400 2012 Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.

PMID 29588463 2018 Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

PMID 21068128 2011 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

PMID 25818971 2016 Development of end-stage renal disease at a young age in two cases with Joubert syndrome.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 23954617 2013 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.

PMID 22693042 2012 Molecular characterization of Joubert syndrome in Saudi Arabia.

PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

PMID 22355252 2012 Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

PMID 21245082 2011 Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.

PMID 16682973 2006 The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

PMID 16682970 2006 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

PMID 17564967 2007 CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

PMID 17964524 2007 Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.

PMID 23344081 2012 AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.

PMID 28497568 2017 Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

PMID 21602930 2011 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

PMID 17564974 2007 Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

PMID 20683928 2010 Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

PMID 29398085 2018 Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.

PMID 25445212 2015 Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.

PMID 23188109 2012 High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.

PMID 20079931 2010 Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

PMID 25920555 2016 Joubert syndrome: genotyping a Northern European patient cohort.

PMID 27491411 2016 Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

PMID 26047050 2015 Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

PMID 23847139 2013 Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

PMID 17409309 2007 High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.

PMID 26673778 2016 Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 17617513 2007 Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.

rs768663992 in CLUAP1 gene and Familial aplasia of the vermis PMID 28679688 2017 Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.

rs587777079 in IFT172 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs121918130 in INPP5E gene and Familial aplasia of the vermis PMID 19668216 2009 Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

PMID 23386033 2013 Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

PMID 19668215 2009 INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.

rs534542684 in KIAA0586 gene and Familial aplasia of the vermis PMID 26096313 2015 KIAA0586 is Mutated in Joubert Syndrome.

PMID 26437029 2015 Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

PMID 26026149 2015 Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

PMID 26386247 2015 TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).

rs1555531363 in KIAA0753 gene and Familial aplasia of the vermis PMID 29138412 2017 Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

rs864309712 in LOC105371157;KIAA0556 gene and Familial aplasia of the vermis PMID 26714646 2015 KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.

rs375170572 in LOC105371841;MKS1;LPO gene and Familial aplasia of the vermis PMID 17397051 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

rs1114167302 in MKS1 gene and Familial aplasia of the vermis PMID 27377014 2016 MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 17377820 2007 Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

PMID 16415886 2006 MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

PMID 17397051 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

PMID 17935508 2007 A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.

PMID 17437276 2007 Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

PMID 26490104 2016 MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

PMID 28497568 2017 Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

PMID 27570071 2016 Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

PMID 24886560 2014 Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

PMID 17185389 2007 The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

rs863225205 in MKS1;LPO;LOC105371841 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs1569102786 in OFD1 gene and Familial aplasia of the vermis PMID 16783569 2006 A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

PMID 27081566 2016 Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.

PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

PMID 24884629 2014 CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

PMID 23036093 2013 OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs17089782 in PIBF1 gene and Familial aplasia of the vermis PMID 26167768 2015 An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

rs754404879 in RCOR1 gene and Familial aplasia of the vermis PMID 26489029 2016 Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

rs121918198 in RPGRIP1L gene and Familial aplasia of the vermis PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 17558407 2007 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

PMID 18565097 2008 RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

PMID 17960139 2007 Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations.

PMID 19430481 2009 A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

PMID 17558409 2007 The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

rs187433682 in TCTN2 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs863225150 in TGFB1;B9D2 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs11230683 in TMEM216 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 28497568 2017 Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

PMID 20512146 2010 Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

PMID 23351400 2012 Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.

PMID 26673778 2016 Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

PMID 22282472 2012 Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

PMID 20036350 2010 Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

rs137853108 in TMEM67 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 17397051 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

PMID 17377820 2007 Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

PMID 20607301 2010 Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.

PMID 19508969 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

PMID 19540516 2009 MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.

PMID 26035863 2015 The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.

PMID 21068128 2011 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

PMID 19058225 2009 MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

PMID 26729329 2016 Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

PMID 20232449 2010 Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

PMID 28431631 2017 Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.

PMID 28719906 2017 A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.

PMID 12368986 2002 Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases.

PMID 25920555 2016 Joubert syndrome: genotyping a Northern European patient cohort.

rs758593134 in TMTC3;CEP290 gene and Familial aplasia of the vermis PMID 20690115 2010 CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

rs312262818 in TRAPPC2;OFD1 gene and Familial aplasia of the vermis PMID 28289185 2017 Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.