M Upadhyaya

Summary

Affiliation: Cardiff University
Country: UK

Publications

  1. ncbi request reprint Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types
    Gill Spurlock
    Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, UK
    Fam Cancer 6:463-71. 2007
  2. pmc Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1
    Stephen E Hamby
    School of Science and Technology, Nottingham Trent University, Clifton Lane, Nottingham NG11 8NS, UK
    Hum Genomics 7:18. 2013
  3. pmc Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis
    Sebastian Laycock-van Spyk
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK
    Hum Genomics 5:623-90. 2011
  4. doi request reprint Neurofibromatosis type 1: diagnosis and recent advances
    Meena Upadhyaya
    Cardiff University, Institute of Medical Genetics, Heath Park, Cardiff CF14 4XN, UK
    Expert Opin Med Diagn 4:307-22. 2010
  5. pmc Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
    Adila Alkindy
    Clinical Genetics Department, Sultan Qaboos University Hospital, Al Khod, Muscat 123, Sultanate of Oman
    Hum Genomics 6:12. 2012
  6. pmc Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1
    Laura Thomas
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK
    Hum Genomics 6:18. 2012
  7. pmc An emerging role for microRNAs in NF1 tumorigenesis
    Ashni Sedani
    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Hum Genomics 6:23. 2012
  8. doi request reprint Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis
    Meena Upadhyaya
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK
    Hum Mutat 33:763-76. 2012
  9. ncbi request reprint Molecular diagnosis of facioscapulohumeral muscular dystrophy
    Meena Upadhyaya
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
    Expert Rev Mol Diagn 2:160-71. 2002
  10. ncbi request reprint Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1
    Meena Upadhyaya
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
    Hum Genet 112:12-7. 2003

Collaborators

Detail Information

Publications55

  1. ncbi request reprint Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types
    Gill Spurlock
    Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, UK
    Fam Cancer 6:463-71. 2007
    ..Only 68 characterised NF1 somatic mutations have so far been reported and so our data will contribute to NF1 somatic mutational spectrum of the NF1 gene and will be important for understanding the molecular basis of NF1 tumorigenesis...
  2. pmc Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1
    Stephen E Hamby
    School of Science and Technology, Nottingham Trent University, Clifton Lane, Nottingham NG11 8NS, UK
    Hum Genomics 7:18. 2013
    ....
  3. pmc Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis
    Sebastian Laycock-van Spyk
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK
    Hum Genomics 5:623-90. 2011
    ....
  4. doi request reprint Neurofibromatosis type 1: diagnosis and recent advances
    Meena Upadhyaya
    Cardiff University, Institute of Medical Genetics, Heath Park, Cardiff CF14 4XN, UK
    Expert Opin Med Diagn 4:307-22. 2010
    ..Pathogenic somatic mutations of the NF1 gene are increasingly being identified in tumours not usually associated with NF1, a clear indication that neurofibromin has a much wider biological role and has an importance far beyond NF1...
  5. pmc Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
    Adila Alkindy
    Clinical Genetics Department, Sultan Qaboos University Hospital, Al Khod, Muscat 123, Sultanate of Oman
    Hum Genomics 6:12. 2012
    ..A significant influence of gender was also observed on the number of subcutaneous neurofibromas (females, p = 0.009) and preschool learning difficulties (females, p = 0.022)...
  6. pmc Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1
    Laura Thomas
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK
    Hum Genomics 6:18. 2012
    ....
  7. pmc An emerging role for microRNAs in NF1 tumorigenesis
    Ashni Sedani
    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Hum Genomics 6:23. 2012
    ....
  8. doi request reprint Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis
    Meena Upadhyaya
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK
    Hum Mutat 33:763-76. 2012
    ..These results suggest new targets for therapeutic intervention in relation to MPNSTs...
  9. ncbi request reprint Molecular diagnosis of facioscapulohumeral muscular dystrophy
    Meena Upadhyaya
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
    Expert Rev Mol Diagn 2:160-71. 2002
    ..Indeed, the identification of the FSHD gene itself should potentiate major improvements in diagnostic testing...
  10. ncbi request reprint Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1
    Meena Upadhyaya
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
    Hum Genet 112:12-7. 2003
    ....
  11. ncbi request reprint Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors
    Meena Upadhyaya
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Hum Mutat 23:134-46. 2004
    ..These findings are consistent with the view that NF1 tumorigenesis is a complex multistep process involving a variety of different types of genetic defect at multiple loci...
  12. doi request reprint Germline and somatic NF1 gene mutations in plexiform neurofibromas
    Meena Upadhyaya
    Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF144XN, UK
    Hum Mutat 29:E103-11. 2008
    ..Evidence for LOH involving the TP53 gene identified in the PNFs is also reported for the first time...
  13. ncbi request reprint Genetic basis of tumorigenesis in NF1 malignant peripheral nerve sheath tumors
    Meena Upadhyaya
    Institute of Medical Genetics, Cardiff University, Heath Park Campus, Cardiff CF14 4XN, United Kingdom
    Front Biosci (Landmark Ed) 16:937-51. 2011
    ..Multidisciplinary collaborative efforts are clearly essential to fully decipher both the complex molecular basis of MPNST development and to define potential therapeutic targets...
  14. ncbi request reprint Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)
    M Upadhyaya
    Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom
    Hum Mutat 29:74-82. 2008
    ..DNA from 20 tumors showed evidence for loss of heterozygosity (LOH) across the TP53 region in 11 samples, with novel TP53 point mutations in four tumors...
  15. pmc An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
    M Upadhyaya
    Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK
    Am J Hum Genet 80:140-51. 2007
    ..The biological mechanism that relates this specific mutation to the suppression of cutaneous neurofibroma development is unknown...
  16. doi request reprint The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas
    Meena Upadhyaya
    Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF144XN, UK
    Neurogenetics 10:251-63. 2009
    ..No evidence for LOH of the TP53 gene was found in these tumors...
  17. pmc Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene
    M Upadhyaya
    Institute of Medical Genetics, University of Wales, College of Medicine, Health Park, Cardiff, UK
    J Med Genet 32:706-10. 1995
    ..The two nucleotide alterations in exon 27a and the one in exon 45 are predicted to produce a truncated protein...
  18. ncbi request reprint Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene
    M Upadhyaya
    Institute of Medical Genetics, Heath Park, Cardiff, UK
    Hum Genet 99:88-92. 1997
    ..The mutations reported in this study therefore provide further material for the functional analysis of neurofibromin as well as an insight into the mutational spectrum of the NF1 GRD...
  19. ncbi request reprint Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels
    M H Shen
    Institute of Medical Genetics, College of Medicine, University of Wales, Heath Park, Cardiff, UK
    Hum Mol Genet 2:1861-4. 1993
    ..The third mutation is a 10-bp deletion (TTCTCTTGGA) within exon 44 resulting in the formation of an inappropriate stop codon. These results should be useful for the further elucidation of the molecular basis of NF1...
  20. ncbi request reprint Six novel mutations in the neurofibromatosis type 1 (NF1) gene
    M Upadhyaya
    Institute of Medical Genetics, Cardiff, United Kingdom
    Hum Mutat 10:248-50. 1997
  21. ncbi request reprint Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene
    J Maynard
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Hum Genet 99:674-6. 1997
    ..Any previous lack of exon 16 mutations in this category would be explicable in terms of a lower propensity to mutate for codons in this gene region...
  22. doi request reprint SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype
    G Spurlock
    Institute of Medical Genetics, Cardiff University, Cardiff, UK
    J Med Genet 46:431-7. 2009
    ....
  23. ncbi request reprint Detection of copy number changes at the NF1 locus with improved high-resolution array CGH
    M H Shen
    All Wales Laboratory Genetics Service, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK
    Clin Genet 72:238-44. 2007
    ..These results demonstrate that a locus-specific microarray constructed from single PCR products can efficiently detect copy number changes at the NF1 locus, providing a simple method for the molecular diagnosis of NF1...
  24. pmc Molecular genetics of neurofibromatosis type 1 (NF1)
    M H Shen
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    J Med Genet 33:2-17. 1996
    ..Further extensive studies are required to elucidate the gene function and the mutation spectrum. This should then facilitate the molecular diagnosis and the development of new therapy for the disease...
  25. ncbi request reprint Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12
    M Upadhyaya
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Hum Genet 91:392-4. 1993
    ..These findings confirm that the disease phenotype is probably caused by a gene dosage effect...
  26. ncbi request reprint Molecular diagnosis of neurofibromatosis type 1: 2 years experience
    Sian Griffiths
    Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XN, UK
    Fam Cancer 6:21-34. 2007
    ....
  27. doi request reprint Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings
    Gill Spurlock
    Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN Wales, UK
    J Cancer Res Clin Oncol 136:1869-80. 2010
    ..This study analyzed the genetic alterations associated with this pathological heterogeneity in order to identify the genetic processes involved in transformation from a benign to an aggressive malignant tumor...
  28. ncbi request reprint Analysis of mutations at the neurofibromatosis 1 (NF1) locus
    M Upadhyaya
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Hum Mol Genet 1:735-40. 1992
    ..We have so far completed the screen of exons 1-9 of the NF1 gene for the identification of mutations and have found no evidence of clustering of such mutations in the gene...
  29. ncbi request reprint Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection
    M C O'Donovan
    Division of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, CF4 4XN, United Kingdom
    Genomics 52:44-9. 1998
    ..We conclude that DHPLC is a highly sensitive and specific method for mutation detection...
  30. ncbi request reprint Telomerase activity is a biomarker for high grade malignant peripheral nerve sheath tumors in neurofibromatosis type 1 individuals
    Kiran K Mantripragada
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK
    Genes Chromosomes Cancer 47:238-46. 2008
    ..042), PNF (P = 0.001) or DNF tumors (P = 0.010). These findings indicate that TA and expression level of TERT are potential markers for high grade malignancy in NF1 patients...
  31. doi request reprint Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array
    Kiran K Mantripragada
    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, UK
    Genes Chromosomes Cancer 48:897-907. 2009
    ..3 (33% cases). These genes have previously been implicated in other cancer conditions and therefore, should be considered for their therapeutic, prognostic, and diagnostic relevance in NF1 tumorigenesis...
  32. ncbi request reprint The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs)
    Meena Upadhyaya
    Institute of Medical Genetics, Cardiff University, Cardiff, Wales, United Kingdom
    Hum Mutat 27:716. 2006
    ..5Mb deletion, in order to determine the true frequency of MPNST in this sub-group of NF1 patients...
  33. pmc Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families
    J C MacMillan
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff
    J Med Genet 29:12-3. 1992
    ..The detection of this partial trisomy offers a rapid method for the diagnosis of CMT1a in families not suitable for linkage analysis...
  34. ncbi request reprint Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD)
    M Upadhyaya
    Institute of Medical Genetics, Heath Park, Cardiff CF4 4XW, U K
    Prenat Diagn 19:959-65. 1999
    ..The eventual isolation and functional characterization of the FSHD gene should allow us to unravel many of the complexities currently associated with the molecular diagnosis of this disorder...
  35. ncbi request reprint Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene
    M Upadhyaya
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, U K
    Hum Mutat 4:83-101. 1994
    ..A complete understanding of the structure and function of the NF1 gene awaits further detailed studies of both naturally occurring and in vitro-generated mutations...
  36. ncbi request reprint Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1
    Claudia Consoli
    Institute of Medical Genetics, Cardiff University, Cardiff, UK
    J Invest Dermatol 125:463-6. 2005
    ..These findings confirm that gonosomal mosaicism can occur in SNF1, with consequent important implications for genetic counselling...
  37. ncbi request reprint Sex ratio and absence of uniparental disomy in spontaneous abortions with a normal karyotype
    M J Smith
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Clin Genet 53:258-61. 1998
    ..In 35 cases biparental inheritance of every autosome pair was demonstrated. The sex ratio of the normal spontaneous abortions of proven biparental origin was 0.77, but this was not significantly different from 1.00...
  38. ncbi request reprint Novel mutation of the myelin P0 gene in a CMT1B family
    E Sorour
    Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK
    Hum Mutat 9:74-7. 1997
  39. doi request reprint Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families
    Gillian Spurlock
    Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, UK
    Muscle Nerve 42:820-1. 2010
    ..Therefore, in this study we analyzed the haplotype association in a large cohort of sporadic and familial FSHD families from the UK. In all cases the affected individuals displayed the 4qA161 haplotype...
  40. ncbi request reprint Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene
    Martin P Horan
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
    Am J Med Genet A 131:227-31. 2004
    ..The del14 variant demonstrated allele-specific protein binding without altered reporter gene expression and the G + 462C allele showed slightly decreased reporter gene expression...
  41. doi request reprint High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization
    Kiran K Mantripragada
    Institute of Medical Genetics, Cardiff University, School of Medicine, Heath Park, Cardiff, United Kingdom
    Clin Cancer Res 14:1015-24. 2008
    ....
  42. ncbi request reprint Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online
    C Hartog
    Institute of Medical Genetics for Wales, University of Wales College of Medicine, Cardiff, England
    Hum Mutat 14:87. 1999
    ..An additional two missense mutations and one splice site alteration identified in this study have been described previously. Southern analysis revealed complete or partial gene deletions in a further 7 patients...
  43. ncbi request reprint Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD)
    J Fisher
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Neuromuscul Disord 7:55-62. 1997
    ..The identification of the FSHD gene and characterization of the gene product will not only potentiate accurate diagnosis but may also unravel the complexities of the 4q35 FSHD region...
  44. ncbi request reprint Neurofibromatosis type 1: a common familial cancer syndrome
    Meena Upadhyaya
    Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK
    Methods Mol Med 92:285-310. 2004
  45. ncbi request reprint Detection of NF1 mutations utilizing the protein truncation test (PTT)
    Meena Upadhyaya
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Methods Mol Biol 217:315-27. 2003
  46. ncbi request reprint Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients
    Thomas De Raedt
    Center for Human Genetics, University Hospital Leuven, Catholic University of Leuven, Leuven, Belgium
    Genes Chromosomes Cancer 45:893-904. 2006
    ..We conclude that NF1 is a familial tumor syndrome in which the type of germline mutation influences the type of second hit in the tumors...
  47. ncbi request reprint Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type
    Qing Wang
    Centre d Oncologie Génétique, Centre Leon Berard, 28 rue Laennec, 69008 Lyon, France
    Hum Genet 112:117-23. 2003
    ..These observations demonstrate that the NF1 gene is a mutational target of MMR deficiency and suggest that its inactivation is an important step of the malignant progression of MMR-deficient cells...
  48. ncbi request reprint A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma
    Rejin Kebudi
    Division of Pediatric Hematology Oncology, Oncology Institute, Istanbul University, Turkey
    Pediatr Blood Cancer 50:713-5. 2008
    ..Sequencing of the DNA samples identified a C > T nucleotide change in exon 4b (c484CAG > TAG). This nonsense mutation resulted in a change of glutamine to a stop codon (Q162X) and is a novel NF1 gene alteration...
  49. ncbi request reprint Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions
    Marco Venturin
    Department of Biology and Genetics, Medical Faculty, University of Milan, via Viotti 3 5, 20133, Milan, Italy
    Hum Genet 115:69-80. 2004
    ....
  50. pmc NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes
    Jenny Douglas
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Am J Hum Genet 72:132-43. 2003
    ..We conclude that intragenic mutations of NSD1 are the major cause of Sotos syndrome and account for some Weaver syndrome cases but rarely occur in other childhood overgrowth phenotypes...
  51. ncbi request reprint A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features
    Cagatay Oktenli
    Clin Dysmorphol 12:199-201. 2003
    ..This study indicates that such large deletions can also involve flanking loci which affect ocular and skeletal development...
  52. pmc Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
    Rosalie E Ferner
    Department of Neurology, Guy s Hospital, St Thomas St, London SE1 9RT, UK
    J Med Genet 44:81-8. 2007
    ..The consensus statement discusses the diagnostic criteria, major differential diagnoses, clinical manifestations and the present strategies for monitoring and management of NF1 complications...
  53. ncbi request reprint Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney
    Cagatay Oktenli
    Department of Internal Medicine, Gulhane School of Medicine, Ankara, Turkey
    Am J Med Genet A 127:298-301. 2004
    ..None of these diagnoses was convincingly confirmed in this patient...
  54. ncbi request reprint Large-scale molecular comparison of human schwann cells to malignant peripheral nerve sheath tumor cell lines and tissues
    Shyra J Miller
    Division of Experimental Hematology, Cincinnati Children s Hospital Research Foundation, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA
    Cancer Res 66:2584-91. 2006
    ....
  55. ncbi request reprint Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array
    Teresita Díaz de Ståhl
    Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
    Hum Mutat 29:398-408. 2008
    ..This report contributes to the establishment of the common baseline for CNV, which is an important resource in human genetics...