Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
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Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzleCiliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Bardet-Biedl SyndromeDisruption of a ciliary B9 protein complex causes Meckel syndromeA mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signalingCiliopathiesThe Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.Clinical and molecular features of Joubert syndrome and related disorders.Nephronophthisis: disease mechanisms of a ciliopathy.Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4.Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert SyndromeMKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementB9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysisGenetic, chromosomal, and syndromic causes of neural tube defects.Meckel-Gruber syndrome: Report of two cases.A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mappingMutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?MKS1 regulates ciliary INPP5E levels in Joubert syndrome.Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.Environmental factors for the development of fetal urinary malformations.Clinical utility gene card for: Meckel syndrome - update 2016.Clinical utility gene card for: Meckel syndrome.The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.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.
P2860
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P2860
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
description
2007 nî lūn-bûn
@nan
2007 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի մարտին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Molecular diagnostics of Mecke ...... erences between MKS1 and MKS3.
@ast
Molecular diagnostics of Mecke ...... erences between MKS1 and MKS3.
@en
Molecular diagnostics of Mecke ...... erences between MKS1 and MKS3.
@nl
type
label
Molecular diagnostics of Mecke ...... erences between MKS1 and MKS3.
@ast
Molecular diagnostics of Mecke ...... erences between MKS1 and MKS3.
@en
Molecular diagnostics of Mecke ...... erences between MKS1 and MKS3.
@nl
prefLabel
Molecular diagnostics of Mecke ...... erences between MKS1 and MKS3.
@ast
Molecular diagnostics of Mecke ...... erences between MKS1 and MKS3.
@en
Molecular diagnostics of Mecke ...... erences between MKS1 and MKS3.
@nl
P2093
P1433
P1476
Molecular diagnostics of Mecke ...... erences between MKS1 and MKS3.
@en
P2093
Cynthia J Hommerding
Donna J Lager
Egbert Bakker
Mark B Consugar
Martijn H Breuning
Peter C Harris
Vicente E Torres
Vickie J Kubly
Vincent H Gattone
Wai Chong Wong
P2888
P304
P356
10.1007/S00439-007-0341-3
P577
2007-03-22T00:00:00Z
P5875
P6179
1008581719