Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements
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[1] Kenny Q. Ye,et al. Large-Scale Copy Number Polymorphism in the Human Genome , 2004, Science.
[2] M Bobrow,et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features , 2004, Journal of Medical Genetics.
[3] Bradley P. Coe,et al. A tiling resolution DNA microarray with complete coverage of the human genome , 2004, Nature Genetics.
[4] Patrick G Buckley,et al. Genomic microarrays in the spotlight. , 2004, Trends in genetics : TIG.
[5] I. Dunham,et al. DNA sequence and analysis of human chromosome 9 , 2003, Nature.
[6] J. Nielsen,et al. Deletion long arm 13 , 1977, Human Genetics.
[7] B. Dutrillaux,et al. Deletion of band 13q21 is compatible with normal phenotype , 2004, Human Genetics.
[8] I. Dunham,et al. The DNA sequence and analysis of human chromosome 13 , 2004, Nature.
[9] J. Sebat,et al. Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. , 2003, Genome research.
[10] J. Schwartz,et al. Annotating large genomes with exact word matches. , 2003, Genome research.
[11] Chad A Shaw,et al. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. , 2003, Human molecular genetics.
[12] G. Seki,et al. Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis. , 2002, Journal of the American Society of Nephrology : JASN.
[13] A. Lang,et al. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. , 2001, Human molecular genetics.
[14] Bonifati,et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. , 2000, The New England journal of medicine.
[15] Y. Agid,et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. , 1999, Human molecular genetics.
[16] K. Anyane-Yeboa,et al. Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. , 1993, American journal of medical genetics.
[17] J. Dean,et al. Interstitial deletion of chromosome 13: prognosis and adult phenotype. , 1991, Journal of medical genetics.
[18] R. Neu,et al. A case of 48,XXY,21+ in an infant with Down's syndrome. , 1971, Journal of medical genetics.