Michael Petersen

Articles in Scholarly Journals [Incomplete List]

  1. An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss
    Human Mutation, vol. 29, no. 1, pp. 130–141, 2008
  2. Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia
    Prenatal Diagnosis, vol. 28, no. 4, pp. 309–312, 2008
  3. A report on 10 new patients with heterozygous mutations in theCOL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies
    American Journal of Medical Genetics Part A, vol. 143A, no. 3, pp. 258–264, 2007
  4. i-Motif Formation with Locked Nucleic Acid (LNA)
    Angewandte Chemie International Edition, vol. 46, no. 48, pp. 9220–9222, 2007
  5. A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13–16.1
    European Journal of Human Genetics, vol. 15, no. 3, Article ID 5201761, 6 pages, 2007
  6. Two Carbocyclic Locked Nucleic Acid Analogues Give Structural Information about the Role of Hydration in A-Type Duplexes
    Nucleosides, Nucleotides and Nucleic Acids, vol. 26, no. 10, pp. 1529–1532, 2007
  7. Non-disjunction of chromosome 13
    Human Molecular Genetics, vol. 16, no. 16, pp. 2004–2010, 2007
  8. Juvenile Paget’s Disease: The Second Reported, Oldest Patient Is Homozygous for the
    Journal of Bone and Mineral Research, vol. 22, no. 6, pp. 938–946, 2007
  9. A Large GLC1C Greek Family with a Myocilin T377M Mutation: Inheritance and Phenotypic Variability
    Investigative Ophthalmology & Visual Science, vol. 47, no. 2, pp. 620–625, 2006
  10. Non-syndromic, autosomal-recessive deafness
    Clinical Genetics, vol. 69, no. 5, pp. 371–392, 2006
  11. NMR solution structures of LNA (locked nucleic acid) modified quadruplexes
    Nucleic Acids Research, vol. 34, no. 7, pp. 2006–2014, 2006
  12. Solution structure of the apical stem-loop of the human hepatitis B virus encapsidation signal
    Nucleic Acids Research, vol. 34, no. 16, pp. 4449–4457, 2006
  13. A cyclic dinucleotide with a four-carbon 5?-C-to-5?-C connection; synthesis by RCM, NMR-examination and incorporation into secondary nucleic acid structures
    Organic & Biomolecular Chemistry, vol. 4, no. 12, p. 2433, 2006
  14. Prediction of molecular alignment of nucleic acids in aligned media
    Journal of Biomolecular NMR, vol. 35, no. 2, pp. 103–115, 2006
  15. Monogenic nonsyndromic otosclerosis: Audiological and linkage analysis in a large Greek pedigree
    International Journal of Pediatric Otorhinolaryngology, vol. 70, no. 4, pp. 631–637, 2006
  16. Journal of the American Chemical Society, vol. 128, no. 1, pp. 14–15, 2006
  17. The Journal of Organic Chemistry, vol. 71, no. 20, pp. 7731–7740, 2006
  18. Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association
    Prenatal Diagnosis, vol. 26, no. 3, pp. 258–261, 2006
  19. Prenatal diagnosis of glycogen storage disease type IV
    Prenatal Diagnosis, vol. 26, no. 10, pp. 951–955, 2006
  20. Hellenic National Mutation Database: a prototype database for mutations leading to inherited disorders in the Hellenic population
    Human Mutation, vol. 25, no. 4, pp. 327–333, 2005
  21. Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro
    Human Mutation, vol. 25, no. 6, pp. 543–549, 2005
  22. Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases
    American Journal of Medical Genetics Part A, vol. 132A, no. 3, pp. 310–313, 2005
  23. The Journal of Organic Chemistry, vol. 70, no. 13, pp. 4918–4928, 2005
  24. 3C syndrome with cryptorchidism and posterior embryotoxon
    Clinical Dysmorphology, vol. 14, no. 2, pp. 97–100, 2005
  25. QF-PCR Examination of Parental and Meiotic Origin of Trisomy 21 in Central and Eastern Europe
    Journal of Histochemistry and Cytochemistry, vol. 53, no. 3, pp. 371–373, 2005
  26. Prenatal Diagnosis of Trisomy 2 Mosaicism: A Case Report
    Fetal Diagnosis and Therapy, vol. 19, no. 6, pp. 488–490, 2004
  27. Intercalating Nucleic Acids: The Influence of Linker Length and Intercalator Type on Their Duplex Stabilities
    Nucleosides, Nucleotides and Nucleic Acids, vol. 23, no. 1, pp. 207–225, 2004
  28. Solution structure of a dsDNA:LNA triplex
    Nucleic Acids Research, vol. 32, no. 20, pp. 6078–6085, 2004
  29. Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis
    Clinical Genetics, vol. 65, no. 1, pp. 40–44, 2004
  30. Genetic counseling of medullary breast cancer patients
    Clinical Genetics, vol. 65, no. 4, pp. 343–344, 2004
  31. A ring-closing metathesis based synthesis of bicyclic nucleosides locked in S-type conformations by hydroxyl functionalised 3′,4′-trans linkages
    Tetrahedron, vol. 60, no. 17, pp. 3775–3786, 2004
  32. Bioconjugate Chemistry, vol. 15, no. 3, pp. 449–457, 2004
  33. Bioconjugate Chemistry, vol. 15, no. 2, pp. 260–269, 2004
  34. Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greece
    European Archives of Oto-Rhino-Laryngology, vol. 261, no. 5, pp. 259–261, 2004
  35. LNA: a versatile tool for therapeutics and genomics
    Trends in Biotechnology, vol. 21, no. 2, pp. 74–81, 2003
  36. LNA and α-L-LNA: Towards Therapeutic Applications
    Nucleosides, Nucleotides & Nucleic Acids, vol. 22, no. 5-8, pp. 601–604, 2003
  37. Bi- and Tricyclic Nucleoside Derivatives Restricted in S-Type Conformations and Obtained by RCM-Reactions
    Nucleosides, Nucleotides & Nucleic Acids, vol. 22, no. 5-8, pp. 723–725, 2003
  38. α-LNA (α-D-Configured Locked Nucleic Acid)
    Nucleosides, Nucleotides & Nucleic Acids, vol. 22, no. 5-8, pp. 1143–1145, 2003
  39. Structural Characterization of LNA and α-L-LNA Hybridized to RNA
    Nucleosides, Nucleotides & Nucleic Acids, vol. 22, no. 5-8, pp. 1691–1693, 2003
  40. NMR solution structure of dsDNA containing a bicyclic D-arabino-configured nucleotide fixed in an O4?-endo sugar conformationElectronic supplementary information (ESI) available: A table with atomic charges for the [3.2.0]bcANA modified nucleotide employed in structure calculation, tables with chemical shift values and selections of helix parameters for the duplex studied and a figure with the CD spectra of the [3.2.0]bcANA modified duplex along with the unmodified reference dsDNA. [Coordinates and restraints employed in calculations have been deposited in the Protein Data Bank (accession code: 1oci)]. See http://www.rsc.org/suppdata/ob/b3/b300848g/
    Organic & Biomolecular Chemistry, vol. 1, no. 10, pp. 1790–1797, 2003
  41. 2?-Spiro ribo- and arabinonucleosides: synthesis, molecular modelling and incorporation into oligodeoxynucleotidesElectronic supplementary information (ESI) available: Copies of 13C NMR spectra of compounds 2?4, 5a, 5b, 6a, 6b, 7a, 8a, 8b, 9a, 9b, 11a, 11b, 12a, 12b, 13a, 13b, 14a, 14b, 16, 19, 22 and 24, and 31P NMR spectra of compounds 10, 15, 23 and 29. See http://www.rsc.org/suppdata/ob/b3/b306354b/
    Organic & Biomolecular Chemistry, vol. 1, no. 20, p. 3514, 2003
  42. Functionalized LNA (locked nucleic acid): high-affinity hybridization of oligonucleotides containing N-acylated and N-alkylated 2?-amino-LNA monomersElectronic supplementary information (ESI) available: structures of 2?-amino-LNA monomers V?Z. See http://www.rsc.org/suppdata/cc/b3/b307026c/
    Chemical Communications, no. 17, p. 2130, 2003
  43. NMR structure of an  -L-LNA:RNA hybrid: structural implications for RNase H recognition
    Nucleic Acids Research, vol. 31, no. 20, pp. 5858–5867, 2003
  44. Prelingual Nonsyndromic Hearing Loss in Greece
    ORL, vol. 64, no. 5, pp. 321–323, 2002
  45. BMC Genetics, vol. 3, no. 1, p. 5, 2002
  46. Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis
    European Journal of Human Genetics, vol. 10, no. 11, pp. 694–698, 2002
  47. 3???,4???-trans-Linked bicyclic nucleosides locked in S-type conformations
    Chemical Communications, no. 17, pp. 1888–1889, 2002
  48. Prevalence of GJB2 mutations in prelingual deafness in the Greek population
    International Journal of Pediatric Otorhinolaryngology, vol. 65, no. 2, pp. 101–108, 2002
  49. Journal of the American Chemical Society, vol. 124, no. 21, pp. 5974–5982, 2002
  50. Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients
    Journal of Molecular Medicine, vol. 80, no. 2, pp. 124–131, 2002
  51. α-L-LNA (α-L-ribo Configured Locked Nucleic Acid) Recognition of DNA: An NMR Spectroscopic Study
    Chemistry - A European Journal, vol. 8, no. 13, p. 3001, 2002
  52. DHPLC analysis of the MECP2 gene in Italian Rett patients
    Human Mutation, vol. 18, no. 2, pp. 132–140, 2001
  53. Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF)
    Prenatal Diagnosis, vol. 21, no. 1, pp. 1–9, 2001
  54. Prenatal diagnosis of two rarede novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis
    Prenatal Diagnosis, vol. 21, no. 6, pp. 484–487, 2001
  55. α-I-LNA (α-I-ribo Configured Locked Nucleic Acid) Recognition of RNA. A Study by NMR Spectroscopy and Molecular Dynamics Simulations
    Journal of the American Chemical Society, vol. 123, no. 30, pp. 7431–7432, 2001
  56. Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree
    European Journal of Human Genetics, vol. 9, no. 6, Article ID 5200645, 5 pages, 2001
  57. LNA (LOCKED NUCLEIC ACID) AND THE DIASTEREOISOMERIC α-L-LNA: CONFORMATIONAL TUNING AND HIGH-AFFINITY RECOGNITION OF DNA/RNA TARGETS
    Nucleosides, Nucleotides & Nucleic Acids, vol. 20, no. 4&7, pp. 389–396, 2001
  58. SYNTHESIS AND NMR-ANALYSIS OF TRICYCLIC NUCLEOSIDES
    Nucleosides, Nucleotides & Nucleic Acids, vol. 20, no. 4&7, pp. 1309–1312, 2001
  59. High carrier frequency of the 35delG deafness mutation in European populations
    European Journal of Human Genetics, vol. 8, no. 1, Article ID 5200406, 4 pages, 2000
  60. Tricyclic nucleosides derived from D-glucose. Synthesis and conformational behaviour
    Journal of the Chemical Society, Perkin Transactions 1, no. 22, pp. 3706–3713, 2000
  61. Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis
    Journal of Neurology, vol. 247, no. 12, pp. 940–942, 2000
  62. Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness
    Human Mutation, vol. 16, no. 1, pp. 7–12, 2000
  63. BRCA1 mutation analysis in breast/ovarian cancer families from Greece
    Human Mutation, vol. 16, no. 3, pp. 272–273, 2000
  64. Structural Studies of LNA:RNA Duplexes by NMR: Conformations and Implications for RNase H Activity
    Chemistry - A European Journal, vol. 6, no. 15, pp. 2687–2695, 2000
  65. Molecular cytogenetic characterization and origin of two de novo duplication 9p cases
    American Journal of Medical Genetics, vol. 91, no. 2, pp. 102–106, 2000
  66. The conformations of locked nucleic acids (LNA)
    Journal of Molecular Recognition, vol. 13, no. 1, pp. 44–53, 2000
  67. Association between presenilin-1 polymorphism and maternal meiosis II errors in Down syndrome
    American Journal of Medical Genetics, vol. 93, no. 5, pp. 366–372, 2000
  68. Investigation of a cluster of children with Down's syndrome born to mothers who had attended a school in Dundalk, Ireland
    Occupational and Environmental Medicine, vol. 57, no. 12, pp. 793–804, 2000
  69. Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21
    Genome Research, vol. 10, no. 9, pp. 1319–1332, 2000
  70. Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
    American Journal of Medical Genetics, vol. 86, no. 1, pp. 34–43, 1999
  71. Antisense RNA regulation in prokaryotes: rapid RNA/RNA interaction facilitated by a general U-turn loop structure1
    Journal of Molecular Biology, vol. 294, no. 5, pp. 1115–1125, 1999
  72. Apolipoprotein E and presenilin-1 genotypes in Huntington's disease
    Journal of Neurology, vol. 246, no. 7, pp. 574–577, 1999
  73. Bioconjugate Chemistry, vol. 10, no. 1, pp. 66–74, 1999
  74. Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction
    Clinical Genetics, vol. 55, no. 6, pp. 483–486, 1999
  75. Journal of the American Chemical Society, vol. 120, no. 22, pp. 5458–5463, 1998
  76. Bioconjugate Chemistry, vol. 9, no. 3, pp. 331–340, 1998
  77. Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q
    British Journal of Haematology, vol. 103, no. 1, pp. 213–216, 1998
  78. FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population
    Genetic Epidemiology, vol. 15, no. 1, pp. 103–109, 1998
  79. Non-disjunction of chromosome 18
    Human Molecular Genetics, vol. 7, no. 4, pp. 661–669, 1998
  80. Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans
    Human Molecular Genetics, vol. 7, no. 8, pp. 1221–1227, 1998
  81. Analysis of the Origin of the Extra Chromosome in Trisomy 8 in 4 Cases of Spontaneous Abortions
    Fetal Diagnosis and Therapy, vol. 13, no. 1, pp. 42–45, 1998
  82. Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21
    Human Molecular Genetics, vol. 6, no. 9, pp. 1391–1399, 1997
  83. A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region
    Human Genetics, vol. 100, no. 5-6, pp. 669–675, 1997
  84. Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms
    Human Genetics, vol. 99, no. 1, pp. 56–61, 1996
  85. Apolipoprotein E allele distribution in parents of Down's syndrome children
    The Lancet, vol. 347, no. 9005, pp. 862–865, 1996
  86. Susceptible chiasmate configurations of chromosome 21 predispose to non–disjunction in both maternal meiosis I and meiosis II
    Nature Genetics, vol. 14, no. 4, Article ID ng1296-400, 5 pages, 1996
  87. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish county
    American Journal of Medical Genetics, vol. 60, no. 3, pp. 261–262, 1995
  88. Monozygotic twins discordant for gastroschisis: Case report and review of the literature of twins and familial occurrence of gastroschisis
    American Journal of Medical Genetics, vol. 52, no. 2, pp. 223–226, 1994
  89. Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21
    American Journal of Medical Genetics, vol. 46, no. 6, pp. 647–651, 1993
  90. A Linkage Map of Human Chromosome 21: 43 PCR Markers at Average Intervals of 2.5 cM
    Genomics, vol. 16, no. 3, pp. 562–571, 1993
  91. Molecular genetic approach to the characterization of the ?Down syndrome region? of chromosome 21
    Genomics, vol. 5, no. 2, pp. 325–331, 1989
  92. Rare chromosome 20 variants encountered during prenatal diagnosis
    Prenatal Diagnosis, vol. 6, no. 5, pp. 363–367, 1986