Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth
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Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophreniaREUL is a novel E3 ubiquitin ligase and stimulator of retinoic-acid-inducible gene-IRiplet/RNF135, a RING finger protein, ubiquitinates RIG-I to promote interferon-beta induction during the early phase of viral infectionSelection of suitable housekeeping genes for expression analysis in glioblastoma using quantitative RT-PCRContribution of hepatic lineage stage-specific donor memory to the differential potential of induced mouse pluripotent stem cells.High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysisEpigenetic heredity of human height.Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.Clinical and molecular heterogeneity in brazilian patients with sotos syndrome.Evidence of Recent Intricate Adaptation in Human Populations.RNF135, RING finger protein, promotes the proliferation of human glioblastoma cells in vivo and in vitro via the ERK pathway.Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.Emerging genotype-phenotype relationships in patients with large NF1 deletions.Ubiquitin-mediated modulation of the cytoplasmic viral RNA sensor RIG-I.Approach to the Diagnosis of Overgrowth Syndromes.Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients.Empirical Bayes scan statistics for detecting clusters of disease risk variants in genetic studies.De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.Regulation of RIG-I Activation by K63-Linked Polyubiquitination.Molecular mechanisms of childhood overgrowth.Insight into the molecular genetics of myopia.Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.A new overgrowth syndrome is due to mutations in RNF125.Mutations in SETD2 cause a novel overgrowth condition.Anthropometric characteristics and comorbidities in Japanese patients with neurofibromatosis type 1: a single institutional case-control study.NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype.Different sized somatic NF1 locus rearrangements in neurofibromatosis 1-associated malignant peripheral nerve sheath tumors.A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.Growth in neurofibromatosis 1 microdeletion patientsMolecular Karyotyping in Children and Adolescents with Gender Dysphoria
P2860
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P2860
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth
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2007 nî lūn-bûn
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2007 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
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2007 թվականի օգոստոսին հրատարակված գիտական հոդված
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2007年の論文
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2007年論文
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2007年論文
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2007年論文
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2007年論文
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2007年論文
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2007年论文
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Mutations in RNF135, a gene wi ...... rmalities including overgrowth
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Mutations in RNF135, a gene wi ...... rmalities including overgrowth
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Mutations in RNF135, a gene wi ...... rmalities including overgrowth
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Mutations in RNF135, a gene wi ...... rmalities including overgrowth
@ast
Mutations in RNF135, a gene wi ...... rmalities including overgrowth
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Mutations in RNF135, a gene wi ...... rmalities including overgrowth
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Mutations in RNF135, a gene wi ...... rmalities including overgrowth
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Mutations in RNF135, a gene wi ...... rmalities including overgrowth
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Mutations in RNF135, a gene wi ...... rmalities including overgrowth
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P2093
P50
P356
P1433
P1476
Mutations in RNF135, a gene wi ...... rmalities including overgrowth
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P2093
Brigitte Bernhard
Deirdre Cilliers
Dragana Josifova
Jenny Douglas
Karen Barker
Katrina Tatton-Brown
Kim Coleman
Mohsin Malik
Sahar Mansour
P2888
P356
10.1038/NG2083
P407
P577
2007-08-01T00:00:00Z