A highly sensitive genetic protocol to detect NF1 mutations. - Wikidata - awgldk - TriplyDB

A highly sensitive genetic protocol to detect NF1 mutations.

A highly sensitive genetic protocol to detect NF1 mutations.

http://www.wikidata.org/entity/Q42070660

about

Tumors of the neural crest: Common themes in development and cancer Neurofibromatosis: chronological history and current issues.The NF1 gene revisited - from bench to bedside.The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing 126 novel mutations in Italian patients with neurofibromatosis type 1.Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.Clinical and Molecular Characterization of NF1 Patients: Single-Center Experience of 32 Patients From China High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants.NF1 single and multi-exons copy number variations in neurofibromatosis type 1.Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.Neurofibromatosis Type 1 Molecular Diagnosis: The RNA Point of View.Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.Cutaneous and Systemic Findings in Mosaic Neurofibromatosis Type 1.Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype.Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

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P2860

A highly sensitive genetic protocol to detect NF1 mutations.

http://www.wikidata.org/entity/Q42070660

description

2011 nî lūn-bûn

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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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2011年學術文章

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2011年學術文章

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name

A highly sensitive genetic protocol to detect NF1 mutations.

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A highly sensitive genetic protocol to detect NF1 mutations.

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type

label

A highly sensitive genetic protocol to detect NF1 mutations.

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A highly sensitive genetic protocol to detect NF1 mutations.

@nl

prefLabel

A highly sensitive genetic protocol to detect NF1 mutations.

@en

A highly sensitive genetic protocol to detect NF1 mutations.

@nl

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J.JMOLDX.2010.09.002

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The Journal of Molecular Diagnostics

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A highly sensitive genetic protocol to detect NF1 mutations.

@en

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Alba Marina Hernández

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Ana María Valero

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Concepción Hernández-Chico

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Dolores Tellería

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Elisabete Hernández-Imaz

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Francisco Javier Rodríguez-Álvarez

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Germán Meleán

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María Carmen Valero

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Yolanda Martín

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P2860

Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts

The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene

The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counselling

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.

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2

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