Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 12
Results: 25
Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2663, doi. 10.1093/hmg/dds091
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- Article
Cover Page.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. NP, doi. 10.1093/hmg/dds202
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- Article
Subscription Page.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. NP, doi. 10.1093/hmg/dds204
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- Article
Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2843, doi. 10.1093/hmg/dds093
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- Article
Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2807, doi. 10.1093/hmg/dds108
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Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2768, doi. 10.1093/hmg/dds105
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- Article
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2646, doi. 10.1093/hmg/dds089
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- Article
Alternative oxidase rescues mitochondria-mediated dopaminergic cell loss in Drosophila.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2698, doi. 10.1093/hmg/dds096
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- Article
Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2825
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- Article
A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2836, doi. 10.1093/hmg/dds103
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- Article
Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2738, doi. 10.1093/hmg/dds101
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- Article
Imprinting control region (ICR) of the Peg3 domain.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2677, doi. 10.1093/hmg/dds092
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- Article
Human and mouse ZFY genes produce a conserved testis-specific transcript encoding a zinc finger protein with a short acidic domain and modified transactivation potential.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2631, doi. 10.1093/hmg/dds088
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- Article
Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2651, doi. 10.1093/hmg/dds090
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- Article
Impaired neurotransmission in ether lipid-deficient nerve terminals.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2713, doi. 10.1093/hmg/dds097
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- Article
DISC1 variants 37W and 607F disrupt its nuclear targeting and regulatory role in ATF4-mediated transcription.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2779, doi. 10.1093/hmg/dds106
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- Article
Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2793, doi. 10.1093/hmg/dds107
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- Article
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2759, doi. 10.1093/hmg/dds104
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- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 12, p. NP, doi. 10.1093/hmg/dds201
- Publication type:
- Article
Editorial Board.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. NP, doi. 10.1093/hmg/dds203
- Publication type:
- Article
Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2619, doi. 10.1093/hmg/dds087
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- Article
The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2745, doi. 10.1093/hmg/dds102
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- Article
Friedreich's ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2688, doi. 10.1093/hmg/dds095
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Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2815
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- Article
Neuropathogenic role of adenylate kinase-1 in Aβ-mediated tau phosphorylation via AMPK and GSK3β.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2725, doi. 10.1093/hmg/dds100
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- Article