Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH. - Wikidata - awgldk - TriplyDB

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.

http://www.wikidata.org/entity/Q35151748

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Somatic mutation, genomic variation, and neurological disease Somatic mutations, genome mosaicism, cancer and aging.Applying microsatellite multiplex PCR analysis (MMPA) for determining allele copy-number status and percentage of normal cells within tumors.Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors.Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.Cutaneous squamous cell carcinoma in a patient with neurofibromatosis type 1: A case report Ras-driven transcriptome analysis identifies aurora kinase A as a potential malignant peripheral nerve sheath tumor therapeutic target.The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis.Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network.Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1.RETRACTED: Repeated Multiple Neurofibromatosis Type 1 in the Right Lower Limb: A Case Report.Brain somatic mutations: the dark matter of psychiatric genetics?EPCAM germline and somatic rearrangements in Lynch syndrome: identification of a novel 3'EPCAM deletion.Metformin's performance in in vitro and in vivo genetic toxicology studies.The categories of cutaneous mosaicism: A proposed classification.BRAF V600E and loss of heterozygosity assessment in benign oralneural tumours.Pharmacological and genomic profiling of neurofibromatosis type 1 plexiform neurofibroma-derived schwann cells.Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1 Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma

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Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.

http://www.wikidata.org/entity/Q35151748

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2011 nî lūn-bûn

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2011 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2011 թվականի հունվարին հրատարակված գիտական հոդված

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2011年の論文

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年學術文章

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Dissecting loss of heterozygos ...... mportance of copy neutral LOH.

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Dissecting loss of heterozygos ...... mportance of copy neutral LOH.

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Anna Ravella

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Carles Garcia-Linares

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Conxi Lázaro

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Eduard Serra

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Ernest Terribas

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Eva Pros

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Gabriel Capellà

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Hildegard Kehrer-Sawatzki

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Jaume Mercadé

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Juana Fernández-Rodríguez

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P2860

A simple salting out procedure for extracting DNA from human nucleated cells

Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations.

Interindividual variation in mitotic recombination

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma.

Loss of heterozygosity analysis using whole genome amplification, cell sorting, and fluorescence-based PCR.

Role of homologous recombination in carcinogenesis.

An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies

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78-90

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10.1002/HUMU.21387

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1

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32

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Yolanda Benavente

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2011-01-01T00:00:00Z

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