P C Patsalis

Summary

Affiliation: The Cyprus Institute of Neurology and Genetics
Country: Cyprus

Publications

  1. ncbi request reprint Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity
    Philippos C Patsalis
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Eur J Hum Genet 12:647-53. 2004
  2. pmc Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
    Paola Evangelidou
    Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Mol Cytogenet 3:24. 2010
  3. pmc Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery
    Elisavet A Papageorgiou
    NIPD Genetics Ltd, PO Box 27954, 2434, Nicosia, Cyprus
    BMC Med 11:56. 2013
  4. pmc Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications
    Elisavet A Papageorgiou
    The Cyprus Institute of Neurology and Genetics, PO Box 23462, 1683, Nicosia, Cyprus
    Genome Med 4:46. 2012
  5. doi request reprint A new non-invasive prenatal diagnosis of Down syndrome through epigenetic markers and real-time qPCR
    Philippos C Patsalis
    The Cyprus Institute of Neurology and Genetics, PO Box 23462, 1683, Nicosia, Cyprus
    Expert Opin Biol Ther 12:S155-61. 2012
  6. ncbi request reprint Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability
    Philippos C Patsalis
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Am J Med Genet A 135:145-9. 2005
  7. ncbi request reprint Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization
    Philippos C Patsalis
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Eur J Hum Genet 15:162-72. 2007
  8. ncbi request reprint Complex chromosomal rearrangements
    P C Patsalis
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Genet Couns 18:57-69. 2007
  9. pmc Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype
    Carolina Sismani
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics Nicosia, Cyprus
    Mol Cytogenet 1:15. 2008
  10. ncbi request reprint MAPH: from gels to microarrays
    Philippos C Patsalis
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Eur J Med Genet 48:241-9. 2005

Collaborators

Detail Information

Publications34

  1. ncbi request reprint Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity
    Philippos C Patsalis
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Eur J Hum Genet 12:647-53. 2004
    ..Furthermore, the use of both of the above-mentioned FISH methodologies was absolutely necessary to detect the CCRs...
  2. pmc Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
    Paola Evangelidou
    Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Mol Cytogenet 3:24. 2010
    ..of 1 Mb was applied and results were confirmed with either Fluorescence In Situ Hybridization (FISH), Multiplex Ligation-dependant Probe Amplification (MLPA) or Real-Time PCR...
  3. pmc Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery
    Elisavet A Papageorgiou
    NIPD Genetics Ltd, PO Box 27954, 2434, Nicosia, Cyprus
    BMC Med 11:56. 2013
    ....
  4. pmc Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications
    Elisavet A Papageorgiou
    The Cyprus Institute of Neurology and Genetics, PO Box 23462, 1683, Nicosia, Cyprus
    Genome Med 4:46. 2012
    ..In this review, we highlight the most recent advances in methods for NIPD of aneuploidies, and we discuss their future implications in clinical practice...
  5. doi request reprint A new non-invasive prenatal diagnosis of Down syndrome through epigenetic markers and real-time qPCR
    Philippos C Patsalis
    The Cyprus Institute of Neurology and Genetics, PO Box 23462, 1683, Nicosia, Cyprus
    Expert Opin Biol Ther 12:S155-61. 2012
    ..These limitations have been overawed by the development of the MeDIP real-time qPCR-based methodology...
  6. ncbi request reprint Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability
    Philippos C Patsalis
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Am J Med Genet A 135:145-9. 2005
    ..Furthermore, this study shows a possible association of these deletions with Y-chromosome instability...
  7. ncbi request reprint Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization
    Philippos C Patsalis
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Eur J Hum Genet 15:162-72. 2007
    ....
  8. ncbi request reprint Complex chromosomal rearrangements
    P C Patsalis
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Genet Couns 18:57-69. 2007
    ..The review also discusses the differential transmission of CCRs in males and females, the incidence of pregnancy outcomes of CCR carriers, genetic counseling and prenatal diagnosis...
  9. pmc Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype
    Carolina Sismani
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics Nicosia, Cyprus
    Mol Cytogenet 1:15. 2008
    ..In the sixth familial case, all carriers of the translocations had an abnormal phenotype...
  10. ncbi request reprint MAPH: from gels to microarrays
    Philippos C Patsalis
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Eur J Med Genet 48:241-9. 2005
    ..The array-MAPH methodology offers an alternative methodology to array-CGH and provides a new sensitive microarray-based method including several advantages for the detection of copy number changes in the human genome...
  11. ncbi request reprint Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome
    P C Patsalis
    Department of Cytogenetics, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Clin Genet 51:184-90. 1997
    ..The identification of an SMC is important for the clinical management and prognostic counseling of these patients with Turner syndrome...
  12. ncbi request reprint Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population
    P C Patsalis
    The Cyprus Institute of Neurology and Genetics, Nicosia
    Am J Med Genet 84:217-20. 1999
    ....
  13. ncbi request reprint Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability
    P C Patsalis
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia
    Am J Med Genet 84:184-90. 1999
    ..We hypothesize that this subgroup of alleles and haplotypes are associated with long pure CGGs (>15 CGG) or 35 repeats and, having shared an evolutionary past, would have the tendency to expand...
  14. ncbi request reprint Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients
    P C Patsalis
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia
    Clin Genet 53:249-57. 1998
    ....
  15. ncbi request reprint Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay
    C Sismani
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus
    Eur J Hum Genet 9:527-32. 2001
    ....
  16. ncbi request reprint Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene
    C Constantinou Deltas
    The Cyprus Institute of Neurology and Genetics, Nicosia
    Cytogenet Cell Genet 75:230-3. 1996
    ..We isolated a 65-kb clone that was used for localizing this gene on chromosome 19q13.2 by fluorescence in situ hybridization...
  17. ncbi request reprint Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease
    K Christodoulou
    Department of Molecular Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Hum Mol Genet 7:905-11. 1998
    ..To our knowledge this is the first genetic locus identified to cause FJN/MCD pathology of the dominant adult type...
  18. doi request reprint Multiplex Amplifiable Probe Hybridization (MAPH) methodology as an alternative to comparative genomic hybridization (CGH)
    Ludmila Kousoulidou
    Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Methods Mol Biol 653:47-71. 2010
    ..Array-MAPH can be used for the detection of small-scale copy-number changes, thereby providing new insights into the genetic basis of several diseases, including cancer...
  19. ncbi request reprint Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
    Ludmila Kousoulidou
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus
    Eur J Med Genet 50:399-410. 2007
    ....
  20. ncbi request reprint A nation-based population screening for azoospermia factor deletions in Greek-Cypriot patients with severe spermatogenic failure and normal fertile controls, using a specific study and experimental design
    A Ioulianos
    Department of Cytogenetics, Cyprus Institute of Neurology and Genetics CING, Nicosia, Cyprus
    Int J Androl 25:153-8. 2002
    ..9% and in idiopathic azoospermia it is 14.3%. No variation in the overall deletion frequency or the specific subgroups deletion frequency were found, as compared with frequencies found in patients from different geographic/ethnic origin...
  21. ncbi request reprint Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1
    M Koptides
    The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Nicosia
    Hum Genet 103:709-17. 1998
    ..The high frequency of mutations at this locus may, to a great extent, explain the variability in phenotype observed among patients in the same families, and the relatively high frequency of the disease worldwide...
  22. doi request reprint Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes
    Ludmila Kousoulidou
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Nat Protoc 3:849-65. 2008
    ..Array-MAPH can be used for detection of small-scale copy-number changes in complex genomes, leading to genotype-phenotype correlations and the discovery of new genes...
  23. ncbi request reprint 5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect
    Nicos Skordis
    Pediatric Endocrine Clinic, Makarios Hospital, Nicosia, Cyprus
    J Pediatr Endocrinol Metab 18:241-6. 2005
    ..Mutations in the 5alpha-steroid reductase type 2 gene (SRD5A2) result in male pseudohermaphroditism caused by decreased dihydrotestosterone (DHT) synthesis--a key hormone of virilization of male external genitalia...
  24. ncbi request reprint Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene
    Nicos Skordis
    Makarios Hospital, Nicosia, Cyprus
    J Pediatr Endocrinol Metab 18:309-13. 2005
    ..Phenotypic expression of the mutation may be used for the construction of maps of functional domains of the AR...
  25. pmc Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies
    Elisavet A Papageorgiou
    Cytogenetics and Genomics Department, The CyprusInstitute of Neurology and Genetics, Nicosia, Cyprus
    Am J Pathol 174:1609-18. 2009
    ..In addition, we demonstrated the effectiveness of the methylation DNA immunoprecipitation approach in the enrichment of hypermethylated fetal DNA...
  26. ncbi request reprint A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes
    N Skordis
    Department of Paediatrics, Arch Makarios III Hospital, Nicosia, Cyprus
    Horm Res 53:239-45. 2000
    ....
  27. ncbi request reprint Guidelines for molecular karyotyping in constitutional genetic diagnosis
    Joris Robert Vermeesch
    Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Eur J Hum Genet 15:1105-14. 2007
    ..Internal and external quality control programmes are urgently needed to evaluate and standardise the test results between laboratories...
  28. ncbi request reprint Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion
    Sofia Kitsiou-Tzeli
    Medical Genetics Laboratory, University of Athens, Choremio Research Laboratory, Aghia Sophia Children s Hospital, Athens, Greece
    Eur J Med Genet 50:73-8. 2007
    ..The report of the clinical and molecular presentation of similar cases will allow accurate phenotype-genotype correlation and proper genetic counseling of the family...
  29. ncbi request reprint Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH
    Sofia Kitsiou-Tzeli
    Department of Medical Genetics, University of Athens, Athens, Greece
    Eur J Med Genet 51:61-7. 2008
    ....
  30. doi request reprint Application of two different microarray-based copy-number detection methodologies--array-comparative genomic hybridization and array-multiplex amplifiable probe hybridization--with identical amplifiable target sequences
    Ludmila Kousoulidou
    Clin Chem Lab Med 46:722-4. 2008
  31. ncbi request reprint Response to the Alvarez Nava and Puerta "Y-chromosome microdeletions in 45,X/46,XY patients"
    Philippos C Patsalis
    Am J Med Genet A 140:1251-2. 2006
  32. ncbi request reprint Mosaic trisomy r(14) associated with epilepsy and mental retardation
    Meropi Tzoufi
    Department of Pediatrics, Medical School, University of Ioannina, 45500 Ioannina, Greece
    J Child Neurol 22:869-73. 2007
    ..The patient has a mosaic karyotype with 2 cell lines: 1 with a ring chromosome 14 [r(14)], and 1 with an apparently duplicated r(14) chromosome...
  33. ncbi request reprint Effects of transmission of Y chromosome AZFc deletions
    Philippos C Patsalis
    Cyprus Institute of Neurology and Genetics, Cyprus
    Lancet 360:1222-4. 2002
    ..Transmission of Y chromosome microdeletions could potentially have severe clinical consequences other than male infertility, such as the development of sexual ambiguities and Turner stigmata...
  34. ncbi request reprint Evaluation of whole-genome amplification using multiple-displacement amplification of a limited number of cells
    Stavros Bashiardes
    Clin Chem Lab Med 44:1158-60. 2006