Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.
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Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomaliesThe Exocyst Complex in Health and DiseaseThe many faces of KIF7Genetics and genomic medicine in Saudi ArabiaFrom Planar Cell Polarity to Ciliogenesis and Back: The Curious Tale of the PPE and CPLANE proteins.A polymorphism in the DNA repair domain of APEX1 is associated with the radiation-induced pneumonitis risk among lung cancer patients after radiotherapy.Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.Genetic, chromosomal, and syndromic causes of neural tube defects.Mutations in TMEM231 cause Meckel-Gruber syndrome.The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesJoubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneityMeckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system developmentClassification, clinical features, and genetics of neural tube defects.Unmasking the ciliopathies: craniofacial defects and the primary cilium.Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypesWhole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.Diverse Functions and Signal Transduction of the Exocyst Complex in Tumor Cells.Motile and non-motile cilia in human pathology: from function to phenotypes.Knockdown of Sec8 promotes cell-cycle arrest at G1/S phase by inducing p21 via control of FOXO proteins.Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.Clinical utility gene card for: Meckel syndrome - update 2016.The exocyst is required for photoreceptor ciliogenesis and retinal development.Identification of a novel MKS locus defined by TMEM107 mutation.Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors.A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies.
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P2860
Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Genomic analysis of Meckel-Gru ...... ity and novel candidate genes.
@en
Genomic analysis of Meckel-Gru ...... ity and novel candidate genes.
@nl
type
label
Genomic analysis of Meckel-Gru ...... ity and novel candidate genes.
@en
Genomic analysis of Meckel-Gru ...... ity and novel candidate genes.
@nl
prefLabel
Genomic analysis of Meckel-Gru ...... ity and novel candidate genes.
@en
Genomic analysis of Meckel-Gru ...... ity and novel candidate genes.
@nl
P2093
P2860
P356
P1476
Genomic analysis of Meckel-Gru ...... ity and novel candidate genes.
@en
P2093
Abdulrahman Swaid
Chantal Farra
Eissa Faqeih
Elham Mardawi
Mohammed Z Seidahmed
Muhammed I AlMotairi
Muneera J Alshammari
Ranad Shaheen
Sameera Sogaty
Shatha Al-Rasheed
P2860
P2888
P304
P356
10.1038/EJHG.2012.254
P577
2012-11-21T00:00:00Z
P5875
P6179
1045293976