Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes
Published 2013 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes
Authors
Keywords
-
Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 21, Issue 9, Pages 977-987
Publisher
Springer Nature
Online
2013-01-23
DOI
10.1038/ejhg.2012.279
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene
- (2012) Aliya Ishmukhametova et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- F8 gene dosage defects in atypical patients with severe haemophilia A
- (2012) A. VENCESLÁ et al. HAEMOPHILIA
- Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay
- (2011) Trilochan Sahoo et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders
- (2011) G. Piluso et al. CLINICAL CHEMISTRY
- Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci
- (2010) Sylvia Quemener et al. HUMAN MUTATION
- Mutational spectrum ofCDKL5in early-onset encephalopathies: a study of a large collection of French patients and review of the literature
- (2009) C Nemos et al. CLINICAL GENETICS
- Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase
- (2009) Sylvie Tuffery-Giraud et al. HUMAN MUTATION
- FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome
- (2008) Francesca Ariani et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features
- (2008) Filomena Tiziana Papa et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
- (2008) Matteo Bovolenta et al. BMC GENOMICS
- Utility of Oligonucleotide Array-Based Comparative Genomic Hybridization for Detection of Target Gene Deletions
- (2008) L.-J. C. Wong et al. CLINICAL CHEMISTRY
- Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia
- (2008) Eden V Haverfield et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Kallmann syndrome
- (2008) Catherine Dodé et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Revised spectrum of mutations in sarcoglycanopathies
- (2008) Madiha Trabelsi et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method
- (2008) Yoann Saillour et al. HUMAN MUTATION
- Detection and precise mapping of germline rearrangements inBRCA1, BRCA2, MSH2, andMLH1using zoom-in array comparative genomic hybridization (aCGH)
- (2008) Johan Staaf et al. HUMAN MUTATION
- Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
- (2008) Daniela del Gaudio et al. HUMAN MUTATION
- Microarray-based mutation detection in thedystrophingene
- (2008) Madhuri R. Hegde et al. HUMAN MUTATION
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search