Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
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TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.Histopathology of the Retina from a Three Year-Old Suspected to Have Joubert Syndrome.Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Joubert syndrome: genotyping a Northern European patient cohort.Consensus Paper: Cerebellar Development.Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes.MKS1 regulates ciliary INPP5E levels in Joubert syndrome.Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneityArl13b regulates Shh signaling from both inside and outside the cilium.Unmasking the ciliopathies: craniofacial defects and the primary cilium.Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Photoreceptor Cilia and Retinal Ciliopathies.Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).Molecular genetic analysis of 30 families with Joubert syndrome.Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.Primary cilia proteins: ciliary and extraciliary sites and functions.Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.Cognitive, adaptive, and behavioral features in Joubert syndrome.Cerebellar cognitive affective syndrome: insights from Joubert syndrome.
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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Mutations in B9D1 and MKS1 cau ...... al ciliopathy Meckel syndrome.
@en
Mutations in B9D1 and MKS1 cau ...... al ciliopathy Meckel syndrome.
@nl
type
label
Mutations in B9D1 and MKS1 cau ...... al ciliopathy Meckel syndrome.
@en
Mutations in B9D1 and MKS1 cau ...... al ciliopathy Meckel syndrome.
@nl
prefLabel
Mutations in B9D1 and MKS1 cau ...... al ciliopathy Meckel syndrome.
@en
Mutations in B9D1 and MKS1 cau ...... al ciliopathy Meckel syndrome.
@nl
P2093
P2860
P50
P356
P1476
Mutations in B9D1 and MKS1 cau ...... al ciliopathy Meckel syndrome.
@en
P2093
Adrienn Máté
Alíz Zimmermann
Benrhouma Hanene
Francesca Mancini
Ichraf Kraoua
László Sztriha
Mara Cavallin
Maria Alessandra Carluccio
Maria Teresa Dotti
Marta Romani
P2860
P2888
P356
10.1186/1750-1172-9-72
P577
2014-05-05T00:00:00Z
P5875
P6179
1036540767
1092310750