M Krawczak

Summary

Affiliation: Cardiff University
Country: UK

Publications

  1. ncbi request reprint Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions
    M Krawczak
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Hum Genet 107:362-5. 2000
  2. ncbi request reprint Human gene mutation database-a biomedical information and research resource
    M Krawczak
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, UK
    Hum Mutat 15:45-51. 2000
  3. ncbi request reprint Evolution of the proximal promoter region of the mammalian growth hormone gene
    M Krawczak
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park Cardiff CF4 4XN, UK
    Gene 237:143-51. 1999
  4. ncbi request reprint Informativity assessment for biallelic single nucleotide polymorphisms
    M Krawczak
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Electrophoresis 20:1676-81. 1999
  5. pmc Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes
    M Krawczak
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff CF4 4XN, United Kingdom
    Am J Hum Genet 63:474-88. 1998
  6. pmc Estimating the efficacy and efficiency of cascade genetic screening
    M Krawczak
    Institute of Medical Genetics and Department of Psychological Medicine, University of Wales College of Medicine, Cardiff CF14 4XN, United Kingdom
    Am J Hum Genet 69:361-70. 2001
  7. ncbi request reprint ASP--a simulation-based power calculator for genetic linkage studies of qualitative traits, using sib-pairs
    M Krawczak
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, Wales, UK
    Hum Genet 109:675-7. 2001
  8. ncbi request reprint Molecular reconstruction and homology modelling of the catalytic domain of the common ancestor of the haemostatic vitamin-K-dependent serine proteinases
    M Krawczak
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Hum Genet 98:351-70. 1996
  9. ncbi request reprint Molecular analysis of the genotype-phenotype relationship in factor VII deficiency
    D S Millar
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Hum Genet 107:327-42. 2000
  10. ncbi request reprint Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach
    N M Williams
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Mol Psychiatry 7:1092-100. 2002

Collaborators

Detail Information

Publications34

  1. ncbi request reprint Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions
    M Krawczak
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Hum Genet 107:362-5. 2000
    ..These findings suggest that the maintenance of a defined level of DNA sequence complexity, or at least the avoidance of an increase in sequence complexity, is a critical prerequisite for the function of gene regulatory regions...
  2. ncbi request reprint Human gene mutation database-a biomedical information and research resource
    M Krawczak
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, UK
    Hum Mutat 15:45-51. 2000
    ....
  3. ncbi request reprint Evolution of the proximal promoter region of the mammalian growth hormone gene
    M Krawczak
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park Cardiff CF4 4XN, UK
    Gene 237:143-51. 1999
    ....
  4. ncbi request reprint Informativity assessment for biallelic single nucleotide polymorphisms
    M Krawczak
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Electrophoresis 20:1676-81. 1999
    ..The "equivalent number of maximally informative SNPs", N, is therefore suggested as a measure of marker informativity in the context of kinship testing...
  5. pmc Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes
    M Krawczak
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff CF4 4XN, United Kingdom
    Am J Hum Genet 63:474-88. 1998
    ....
  6. pmc Estimating the efficacy and efficiency of cascade genetic screening
    M Krawczak
    Institute of Medical Genetics and Department of Psychological Medicine, University of Wales College of Medicine, Cardiff CF14 4XN, United Kingdom
    Am J Hum Genet 69:361-70. 2001
    ..This notwithstanding, once screening has become cost-effective at the population level, it can be expected that cascade screening would only transiently represent an economically viable option...
  7. ncbi request reprint ASP--a simulation-based power calculator for genetic linkage studies of qualitative traits, using sib-pairs
    M Krawczak
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, Wales, UK
    Hum Genet 109:675-7. 2001
    ..The power of user-defined datasets is estimated by the number of simulations giving significant results at varying type I error levels...
  8. ncbi request reprint Molecular reconstruction and homology modelling of the catalytic domain of the common ancestor of the haemostatic vitamin-K-dependent serine proteinases
    M Krawczak
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Hum Genet 98:351-70. 1996
    ..Studies of the functional architecture of this model provide new insights into the evolution of protein-binding specificity in this family of proteins...
  9. ncbi request reprint Molecular analysis of the genotype-phenotype relationship in factor VII deficiency
    D S Millar
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Hum Genet 107:327-42. 2000
    ..This suggests that the presence of these alleles may have served to increase the likelihood of pathological F7 gene lesions coming to clinical attention...
  10. ncbi request reprint Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach
    N M Williams
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Mol Psychiatry 7:1092-100. 2002
    ..35, P = 0.006, P = 0.078 corrected for 13 alleles)...
  11. ncbi request reprint Promoter shuffling has occurred during the evolution of the vertebrate growth hormone gene
    N A Chuzhanova
    Department of Computer Science, University of Wales, CF24 3XF, Cardiff, UK
    Gene 254:9-18. 2000
    ..Although some of these changes may have had no influence on promoter function, others could have served to alter either the level of gene expression or the responsiveness of the promoter to external stimuli...
  12. ncbi request reprint Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location
    J P Cheadle
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
    Hum Mol Genet 9:1119-29. 2000
    ..0023), and milder disease was associated with late as compared with early truncating mutations ( P = 0.0190)...
  13. ncbi request reprint Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q
    D W Morris
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
    Hum Mol Genet 9:843-8. 2000
    ..In addition, our results provide support for association analysis being a useful method to map susceptibility loci for complex disorders...
  14. pmc The human gene mutation database
    D N Cooper
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, UK
    Nucleic Acids Res 26:285-7. 1998
    ..Being both comprehensive and fully integrated into the existing bioinformatics structures relevant to human genetics, HGMD has established itself as the central core database of inherited human gene mutations...
  15. ncbi request reprint Location of mutations within the PKD2 gene influences clinical outcome
    N Hateboer
    Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK
    Kidney Int 57:1444-51. 2000
    ..The relationship between the PKD2 genotype and phenotype, however, remains unclear...
  16. ncbi request reprint Linkage disequilibrium mapping provides further evidence of a gene for reading disability on chromosome 6p21.3-22
    D Turic
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, Wales, UK
    Mol Psychiatry 8:176-85. 2003
    ..Our findings strongly support the presence of a gene contributing to RD in a region of chromosome 6 between markers D6S109 and D6S1260, but do not rule out the presence of a gene between D6S1556 and MOG...
  17. ncbi request reprint Molecular analysis of the genotype-phenotype relationship in factor X deficiency
    D S Millar
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Hum Genet 106:249-57. 2000
    ..By contrast, no such relationship could be discerned between laboratory phenotype and polymorphism genotype...
  18. ncbi request reprint The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences
    M Krawczak
    Abteilung Humangenetik, Medizinische Hochschule, Hannover, Federal Republic of Germany
    Hum Genet 90:41-54. 1992
    ....
  19. 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...
  20. ncbi request reprint Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease
    M A Martin
    Centro de Investigacion, Hospital 12 de Octubre, Madrid, Spain
    Clin Genet 59:48-51. 2001
    ..The underlying mechanism of mutagenesis may have been slipped mispairing mediated by the formation of a Moebius loop-like secondary intermediate...
  21. ncbi request reprint Common familial influences on clustering of metabolic syndrome traits with central obesity and insulin resistance: the Kiel obesity prevention study
    A Bosy-Westphal
    Institut fur Humanernahrung und Lebensmittelkunde, Christian Albrechts Universitat, Kiel, Germany
    Int J Obes (Lond) 31:784-90. 2007
    ..The aim of the present study was to examine the common genetic background that contributes to the clustering between the two main features (insulin resistance, central obesity) and different MSX component traits...
  22. ncbi request reprint DNA commission of the International Society of Forensic Genetics: Recommendations on the interpretation of mixtures
    P Gill
    Forensic Science Service, Trident Court, 2960 Solihull Parkway, Birmingham, UK
    Forensic Sci Int 160:90-101. 2006
    ..For this reason, we propose to allow a period of time for feedback and reflection by the scientific community. Then the DNA commission will meet again to consider further recommendations...
  23. pmc Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients
    C A McCune
    Bristol Royal Infirmary, Malborough St, Bristol BS2 8HW, UK
    Gut 55:554-62. 2006
    ....
  24. ncbi request reprint Prenatal exclusion without involving the putative fathers of an incestuous father-daughter parenthood
    J Schmidtke
    Prenat Diagn 24:662-4. 2004
  25. ncbi request reprint Recurrent deletion in the human antithrombin III gene
    C B Grundy
    Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK
    Blood 78:1027-32. 1991
    ..These deletion-prone sites exhibited sufficient sequence homology with each other to derive a consensus sequence (T G A/G A/G G A/C), suggesting that deletion in human genes may not only be non-random but also sequence-directed...
  26. ncbi request reprint Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene
    R Varon
    Institute of Human Genetics, Children s Hospital, Universitatsklinikum Rudolf Virchow, Free University, Berlin, Germany
    Hum Mol Genet 4:1463-4. 1995
  27. ncbi request reprint Pharmacogenetic investigation of the TNF/TNF-receptor system in patients with chronic active Crohn's disease treated with infliximab
    S Mascheretti
    1st Medical Department, Christian Albrechts University, Kiel, Germany
    Pharmacogenomics J 2:127-36. 2002
    ....
  28. ncbi request reprint DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs
    P Gill
    Forensic Science Service, Trident Court, 2960 Solihull Parkway, Birmingham, UK
    Forensic Sci Int 124:5-10. 2001
    ..This report addresses nomenclature, use of allelic ladders, population genetics and reporting methods...
  29. ncbi request reprint Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
    A C Jones
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF4 4XN, UK
    Hum Mol Genet 6:2155-61. 1997
    ..We conclude that there is a reduced risk of mental retardation in TSC1 as opposed to TSC2 disease and that consequent ascertainment bias, at least in part, explains the relative paucity of TSC1 mutations in sporadic TSC...
  30. ncbi request reprint Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations
    J Hampe
    Department of General Internal Medicine, Christian Albrechts University, Kiel, Germany
    Lancet 357:1925-8. 2001
    ..6 (95% CI 1.5-4.5) and 42.1 (4.3-infinity), respectively. Interpretation The insertion mutation in the NOD2 gene confers a substantially increased susceptibility to Crohn's disease but not to ulcerative colitis...
  31. ncbi request reprint Increased reproductive success of MHC class II heterozygous males among free-ranging rhesus macaques
    U Sauermann
    Deutsches Primatenzentrum, Arbeitsgruppe Primatengenetik, , Germany
    Hum Genet 108:249-54. 2001
    ..34). This heterozygote advantage appeared to be independent of the actual male Mamu-DQB1 genotype. No similar effect emerged for a captive group of monkeys of similar genetic background but under veterinary care...
  32. pmc An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations
    M Kayser
    Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany
    Am J Hum Genet 68:990-1018. 2001
    ..Our data illustrate that Y-chromosomal STR haplotypes are an ideal tool for the study of the genetic affinities between groups of male subjects and for detection of population structure...
  33. ncbi request reprint TSPY variants in six loci on the human Y chromosome
    F Dechend
    Institut fur Humangenetik, Medizinische Hochschule, Hannover, Germany
    Cytogenet Cell Genet 91:67-71. 2000
    ..Our data further suggest that an 18-bp tandem duplication found in TSPY exon 1 originated from an unequal sister chromatid exchange between two tandemly arranged TSPY clusters...
  34. ncbi request reprint Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations
    M Witsch-Baumgartner
    Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University Innsbruck, Schoepfstrasse 41, 6020 Innsbruck, Austria
    J Med Genet 45:200-9. 2008
    ..C.1.3.1.21) gene. The prevalence of SLOS has been estimated to range between 1:15000 and 1:60000 in populations of European origin...