High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome

[1]  J. Lupski Structural variation in the human genome. , 2007, The New England journal of medicine.

[2]  B. D. de Vries,et al.  Characterization of a recurrent 15q24 microdeletion syndrome. , 2007, Human molecular genetics.

[3]  河村 大輔,et al.  Genome-wide detection of human copy number variations using high density DNA oligonucleotide arrays , 2007 .

[4]  D. Conrad,et al.  Global variation in copy number in the human genome , 2006, Nature.

[5]  R. Pfundt,et al.  A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism , 2006, Nature Genetics.

[6]  J. Lupski Genome structural variation and sporadic disease traits , 2006, Nature Genetics.

[7]  R. Redon,et al.  Copy Number Variation: New Insights in Genome Diversity References , 2006 .

[8]  Alexander Eckehart Urban,et al.  High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays. , 2006, Proceedings of the National Academy of Sciences of the United States of America.

[9]  T. Shimokawa,et al.  PTCH mutations: distribution and analyses , 2006, Human mutation.

[10]  D. Campion,et al.  APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy , 2006, Nature Genetics.

[11]  Toshiyuki Miyashita,et al.  Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays. , 2005, Human molecular genetics.

[12]  Han G Brunner,et al.  Identification of disease genes by whole genome CGH arrays. , 2005, Human molecular genetics.

[13]  G. Chenevix-Trench,et al.  DHPLC Analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol‐sensing domain , 2005, Human mutation.

[14]  Hiroyuki Aburatani,et al.  Allelic dosage analysis with genotyping microarrays. , 2005, Biochemical and biophysical research communications.

[15]  D. Pinkel,et al.  Array comparative genomic hybridization and its applications in cancer , 2005, Nature Genetics.

[16]  T. Miyashita,et al.  Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons. , 2005, Genomics.

[17]  S. Kreiborg,et al.  Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome , 2005, American journal of medical genetics. Part A.

[18]  M. Haniffa,et al.  NBCCS secondary to an interstitial chromosome 9q deletion , 2004, Clinical and experimental dermatology.

[19]  M. Shapero,et al.  High-resolution analysis of DNA copy number using oligonucleotide microarrays. , 2004, Genome research.

[20]  P. Stankiewicz,et al.  Interstitial deletion 9q22.32‐q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin–Goltz syndrome and features of Nail‐Patella syndrome , 2004, American journal of medical genetics. Part A.

[21]  M. Cohen,et al.  The hedgehog signaling network , 2003, American journal of medical genetics. Part A.

[22]  J. Sebat,et al.  Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. , 2003, Genome research.

[23]  Teresa A. Webster,et al.  Probe selection for high-density oligonucleotide arrays , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[24]  T. Miyashita,et al.  Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients , 2003, Human mutation.

[25]  C. Olivieri,et al.  Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome , 2003, European Journal of Pediatrics.

[26]  D. Zwijnenburg,et al.  Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. , 2002, Nucleic acids research.

[27]  M. Batzer,et al.  Alu repeats and human genomic diversity , 2002, Nature Reviews Genetics.

[28]  T. Yoshimoto,et al.  [A nevoid basal cell carcinoma syndrome with chromosomal aberration]. , 2000, No to hattatsu = Brain and development.

[29]  A. Goldstein,et al.  Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. , 1997, American journal of medical genetics.

[30]  G. Chenevix-Trench,et al.  Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. , 1997, American journal of human genetics.

[31]  R. Shimkets,et al.  Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. , 1996, American journal of human genetics.

[32]  Michael Dean,et al.  Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome , 1996, Cell.

[33]  R. Myers,et al.  Human Homolog of patched, a Candidate Gene for the Basal Cell Nevus Syndrome , 1996, Science.