Motor chip: A comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders

Clinical Chemistry

Volumn 57, Issue 11, 2011, Pages 1584-1596

  Piluso, Giulio ^a   Dionisi, Manuela ^a   Blanco, Francesca Del Vecchio ^a   Torella, Annalaura ^a   Aurino, Stefania ^a,b   Savarese, Marco ^a,b   Giugliano, Teresa ^a   Bertini, Enrico ^c   Terracciano, Alessandra ^c   Vainzof, Mariz ^d   Criscuolo, Chiara ^e   Politano, Luisa ^a   Casali, Carlo ^f   Santorelli, Filippo Maria ^g   Nigro, Vincenzo ^a,b  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f SAPIENZA UNIVERSITY OF ROME   (Italy)

^g DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DYSF PROTEIN; LAMA 2 PROTEIN; MEMBRANE PROTEIN; SETX PROTEIN; SGCG PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; EXON; FEMALE; GENE DELETION; GENE DOSAGE; GENE LOCUS; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MOLECULAR DIAGNOSIS; NEUROMUSCULAR DISEASE;

COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; DOUBLE-BLIND METHOD; GENE DUPLICATION; GENETIC ASSOCIATION STUDIES; HUMANS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; NEUROMUSCULAR DISEASES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SARCOGLYCANS; SEQUENCE DELETION;

EID: 80055068583     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2011.168898     Document Type: Article

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