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E-GEOD-19730 - NF1 microdeletions characterization by custom high-resolution array CGH

Released on 26 May 2010, last updated on 2 May 2014
Homo sapiens
Samples (140)
Array (1)
Protocols (9)
To allow accute charaterization of NF1 locus constitutional microdeletion in 70 NF1 patients, a custom array CGH was developped. Goal was to obtain genomic rearrangements fine characterization in order to perform genotype-phenotype correlation in NF1 microdeleted patients. To serve as a reference group in our genotype-phenotype correlation study in NF1 microdeletion patients, non-deleted NF1 patients (i.e. patients with an intragenic NF1 mutation) were also selected from our database. A total of 389 NF1 patients were included in the reference group of non-deleted patients. Multiple logistic regression was performed to test the association of each clinical feature individually with the type of constitutional NF1 mutation (intragenic mutation vs. microdeletion). The phenotypic traits of the 389 reference patients are available in the "GSE19730_control_patient_characteristics.txt" supplementary file on the Series record. NF1 locus microdeletions characterization vs reference sample (pool of six normal control DNAs)
Experiment type
comparative genomic hybridization by array 
Eric Pasmant <>, Audrey Sabbagh, Béatrice Parfait, Dominique Vidaud, Ingrid Laurendeau, Ivan Bièche, Meena Upadhyaya, Michel Vidaud, Pierre Wolkenstein
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, Grillo E, Hamel MJ, Martin L, Barbarot S, Leheup B, Rodriguez D, Lacombe D, Dollfus H, Pasquier L, Isidor B, Ferkal S, Soulier J, Sanson M, Dieux-Coeslier A, Bièche I, Parfait B, Vidaud M, Wolkenstein P, Upadhyaya M, Vidaud D, members of the NF France Network. , PMID:20513137
Detection and characterization of NF1 microdeletions by custom high resolution array CGH. Pasmant E, Sabbagh A, Masliah-Planchon J, Haddad V, Hamel MJ, Laurendeau I, Soulier J, Parfait B, Wolkenstein P, Bièche I, Vidaud M, Vidaud D. , PMID:19767589
Investigation descriptionE-GEOD-19730.idf.txt
Sample and data relationshipE-GEOD-19730.sdrf.txt
Raw data (2),
Processed data (1)
Array designA-GEOD-9852.adf.txt
R ExpressionSetE-GEOD-19730.eSet.r