Milan Macek

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http://ecorn-cf.eu/index.php?id=177

Articles in Scholarly Journals [Incomplete List]

  1. Detection of two Alu insertions in the CFTR gene
    Journal of Cystic Fibrosis, vol. 7, no. 1, pp. 37–43, 2008
  2. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
    Journal of Cystic Fibrosis, vol. 7, no. 3, pp. 179–196, 2008
  3. Chromosome topology in normal and aneuploid blastomeres from human embryos
    Prenatal Diagnosis, vol. 27, no. 12, pp. 1091–1099, 2007
  4. FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
    Nucleic Acids Research, vol. 35, no. Database, pp. D690–D695, 2007
  5. Polymorphisms of TGF-beta1 in cystic fibrosis patients
    Clinical Immunology, vol. 121, no. 3, pp. 350–357, 2006
  6. Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
    European Journal of Human Genetics, vol. 14, no. 5, Article ID 5201590, 9 pages, 2006
  7. Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations
    European Journal of Human Genetics, Article ID 5201498, 2005
  8. Differential cytokine profile in children with cystic fibrosis
    Clinical Immunology, vol. 115, no. 2, pp. 210–215, 2005
  9. Distribution of human ?-defensin polymorphisms in various control and cystic fibrosis populations
    Genomics, vol. 85, no. 5, pp. 574–581, 2005
  10. Topology of Chromosomes 18 and X in Human Blastomeres from 3- to 4-Day-old Embryos
    Journal of Histochemistry and Cytochemistry, vol. 53, no. 3, pp. 273–276, 2005
  11. 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
  12. Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign
    The American Journal of Human Genetics, vol. 74, no. 1, pp. 176–179, 2004
  13. Recurrent and destructive nasal polyposis in 2 siblings: A possible case of Woakes? Syndrome
    Otolaryngology - Head and Neck Surgery, vol. 131, no. 6, pp. 1009–1011, 2004
  14. A large-scale study of the random variability of a coding sequence: a study on the CFTR gene
    European Journal of Human Genetics, vol. 13, no. 2, Article ID 5201306, 8 pages, 2004
  15. Association of human aging with a functional variant of klotho
    Proceedings of the National Academy of Sciences, vol. 99, no. 2, pp. 856–861, 2002
  16. Cystic fibrosis: A worldwide analysis ofCFTR mutations?correlation with incidence data and application to screening
    Human Mutation, vol. 19, no. 6, pp. 575–606, 2002
  17. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe
    Human Genetics, vol. 106, no. 3, pp. 259–268, 2000
  18. Nature Genetics, vol. 22, no. 2, pp. 128–129, 1999
  19. Evidence for a Common Ethnic Origin of Cystic Fibrosis Mutation 3120+1G→A in Diverse Populations
    The American Journal of Human Genetics, vol. 63, no. 2, pp. 656–662, 1998
  20. Antineutrophil Cytoplasmic Autoantibodies (ANCA) in Children with Cystic Fibrosis*1
    Journal of Autoimmunity, vol. 11, no. 2, pp. 185–190, 1998
  21. Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis
    Human Molecular Genetics, vol. 7, no. 1, pp. 75–83, 1998
  22. A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis
    Human Molecular Genetics, vol. 7, no. 4, pp. 729–735, 1998
  23. Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in theCFTR gene
    Human Mutation, vol. 9, no. 2, pp. 136–147, 1997
  24. Possible association of the allele status of the CS.7/ Hha I polymorphism 5′ of the CFTR gene with postnatal female survival
    Human Genetics, vol. 99, no. 5, pp. 565–572, 1997
  25. Mutation characterization ofCFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for 94% of CF chromosomes
    Human Mutation, vol. 8, no. 4, pp. 340–347, 1996
  26. Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation
    Human Mutation, vol. 6, no. 3, pp. 219–225, 1995
  27. The origin of the major cystic fibrosis mutation (ΔF508) in European populations
    Nature Genetics, vol. 7, no. 2, Article ID ng0694-169, 6 pages, 1994
  28. A mutation in CFTR produces different phenotypes depending on chromosomal background
    Nature Genetics, vol. 5, no. 3, Article ID ng1193-274, 4 pages, 1993
  29. Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis
    New England Journal of Medicine, vol. 329, no. 18, pp. 1308–1313, 1993
  30. Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome
    Human Mutation, vol. 1, no. 6, pp. 501–502, 1992
  31. Genetic influences in the formation of nasal polyps
    The Lancet, vol. 337, no. 8747, p. 974, 1991
  32. Genotype analysis of cystic fibrosis patients in relation to pancreatic sufficiency
    The Lancet, vol. 335, no. 8691, pp. 738–739, 1990
  33. A comparison of coronary risk factors in groups of trained and untrained adolescents
    European Journal of Applied Physiology and Occupational Physiology, vol. 58, no. 6, pp. 577–582, 1989
  34. Favourable levels of cardio-vascular health and risk indicators during childhood and adolescence
    European Journal of Pediatrics, vol. 144, no. 4, pp. 360–367, 1985
  35. Effect of age on systolic time intervals at rest and during exercise on a bicycle ergometer
    European Journal of Applied Physiology and Occupational Physiology, vol. 50, no. 1, pp. 71–78, 1982
  36. Prenatal detection of a fetus hemizygous for the fragile X-chromosome
    Human Genetics, vol. 62, no. 3, pp. 285–286, 1982
  37. Cementoma-like Tumours of Bone
    Archives of Orthopaedic and Traumatic Surgery, vol. 100, no. 4, pp. 267–272, 1982
  38. Work capacity of the Czechoslovakian population
    European Journal of Applied Physiology and Occupational Physiology, vol. 39, no. 3, pp. 155–164, 1978
  39. Activity pattern, smoking habits, and somatometric variables of the Czechoslovakian population
    European Journal of Applied Physiology and Occupational Physiology, vol. 39, no. 3, pp. 165–171, 1978
  40. Prolonged exercise in prepubertal boys
    European Journal of Applied Physiology and Occupational Physiology, vol. 35, no. 4, pp. 291–298, 1976
  41. Prolonged exercise in prepubertal boys
    European Journal of Applied Physiology and Occupational Physiology, vol. 35, no. 4, pp. 299–303, 1976
  42. Replication of cytomegalovirus in human epitheloid diploid cell line
    Archives of Virology, vol. 52, no. 4, pp. 283–296, 1976
  43. Biochemical characteristics of collagen produced by long term cultivated amniotic fluid cells
    Human Genetics, vol. 31, no. 3, pp. 335–340, 1976
  44. Collagen Synthesis in Long-term Amniotic Fluid Cell Cultures
    Nature, vol. 243, no. 5405, Article ID 243289a0, 1 pages, 1973