Genotypes and phenotypes of Joubert syndrome and related disorders.
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The dynamic cilium in human diseasesJoubert Syndrome and related disordersTCTN3 mutations cause Mohr-Majewski syndromeCEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumThe kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypesOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinCC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationJoubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutationMutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesPhosphoinositides: tiny lipids with giant impact on cell regulationInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeAn ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome SequencingEmotions and their cognitive control in children with cerebellar tumors.Clinical and molecular features of Joubert syndrome and related disorders.Disease gene characterization through large-scale co-expression analysisNovel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.Mutations in CSPP1 lead to classical Joubert syndrome.MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementSporadic familial ulnar hexadactyly of all four limbsJoubert syndrome: report of 11 casesHistopathology of the Retina from a Three Year-Old Suspected to Have Joubert Syndrome.A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case reportJoubert syndrome: genotyping a Northern European patient cohort.Mutation spectrum of Joubert syndrome and related disorders among Arabs.Joubert syndrome: Clinical and radiological characteristics of nine patientsJoubert syndrome in a neonate: case report with literature reviewMutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.A neonate with Joubert syndrome presenting with symptoms of Horner syndrome.Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging.Clinical utility gene card for: Joubert syndromePhosphatidylinositolphosphate phosphatase activities and cancer.Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)Joubert syndrome: the molar tooth sign of the mid-brain.Clinical utility gene card for: Joubert syndrome--update 2013.Physiotherapy and Rehabilitation in a Child with Joubert Syndrome.A novel case of natural killer cell deficiency associated with Joubert syndrome.Neurochemical and structural organization of the principal nucleus of the inferior olive in the human.Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome.
P2860
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P2860
Genotypes and phenotypes of Joubert syndrome and related disorders.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
Genotypes and phenotypes of Joubert syndrome and related disorders.
@en
Genotypes and phenotypes of Joubert syndrome and related disorders.
@nl
type
label
Genotypes and phenotypes of Joubert syndrome and related disorders.
@en
Genotypes and phenotypes of Joubert syndrome and related disorders.
@nl
prefLabel
Genotypes and phenotypes of Joubert syndrome and related disorders.
@en
Genotypes and phenotypes of Joubert syndrome and related disorders.
@nl
P1476
Genotypes and phenotypes of Joubert syndrome and related disorders.
@en
P2093
Francesco Brancati
P356
10.1016/J.EJMG.2007.11.003
P577
2007-11-23T00:00:00Z