CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
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Joubert Syndrome and related disordersTCTN3 mutations cause Mohr-Majewski syndromeMutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralizationMapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathwaysMutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesMutations in C5ORF42 cause Joubert syndrome in the French Canadian populationCiliopathies: the trafficking connection.Ciliopathies: an expanding disease spectrum.TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mappingJoubert syndrome: genotyping a Northern European patient cohort.Mutation spectrum of Joubert syndrome and related disorders among Arabs.Joubert syndrome: congenital cerebellar ataxia with the molar toothMKS1 regulates ciliary INPP5E levels in Joubert syndrome.Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneityMutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition.RFX7 is required for the formation of cilia in the neural tubeMolecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.Primary cilia in neurodevelopmental disorders.Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.Genes and molecular pathways underpinning ciliopathies.Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.C5orf42 is the major gene responsible for OFD syndrome type VI.The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis.Nephronophthisis: a genetically diverse ciliopathyClinical utility gene card for: Meckel syndrome.Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.The transition zone: an essential functional compartment of cilia.Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.
P2860
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P2860
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
description
2009 nî lūn-bûn
@nan
2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
CC2D2A mutations in Meckel and ...... genotype-phenotype correlation
@ast
CC2D2A mutations in Meckel and ...... genotype-phenotype correlation
@en
CC2D2A mutations in Meckel and ...... genotype-phenotype correlation
@nl
type
label
CC2D2A mutations in Meckel and ...... genotype-phenotype correlation
@ast
CC2D2A mutations in Meckel and ...... genotype-phenotype correlation
@en
CC2D2A mutations in Meckel and ...... genotype-phenotype correlation
@nl
prefLabel
CC2D2A mutations in Meckel and ...... genotype-phenotype correlation
@ast
CC2D2A mutations in Meckel and ...... genotype-phenotype correlation
@en
CC2D2A mutations in Meckel and ...... genotype-phenotype correlation
@nl
P2093
P2860
P50
P356
P1433
P1476
CC2D2A mutations in Meckel and ...... genotype-phenotype correlation
@en
P2093
Bruno Leheup
Candice Babarit
Chantal Esculpavit
Emmanuelle Szenker
Estelle Escudier
Joëlle Roume
Jéléna Martinovic
Marie Gonzales
Marion Gérard
P2860
P304
P356
10.1002/HUMU.21116
P407
P50
P577
2009-11-01T00:00:00Z