Danuta Z Loesch

Summary

Affiliation: La Trobe University
Country: Australia

Publications

  1. ncbi request reprint Unstable mutations in the FMR1 gene and the phenotypes
    Danuta Loesch
    Department of Psychology, LaTrobe University, Melbourne, Victoria, Australia
    Adv Exp Med Biol 769:78-114. 2012
  2. ncbi request reprint Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene
    D Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, VIC 3086, Australia
    Clin Genet 82:88-92. 2012
  3. pmc Directional and fluctuating asymmetry in finger and a-b ridge counts in psychosis: a case-control study
    Sukanta Saha
    Queensland Centre for Schizophrenia Research, The Park Centre for Mental Health, Wacol, QLD 4076, Australia
    BMC Psychiatry 3:3. 2003
  4. ncbi request reprint White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism
    D Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Victoria, Australia
    Am J Med Genet B Neuropsychiatr Genet 156:502-6. 2011
  5. ncbi request reprint Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond
    D Z Loesch
    School of Psychological Science, La Trobe University, Victoria 3086, Auatralia
    Clin Genet 67:412-7. 2005
  6. ncbi request reprint Magnetic resonance imaging study in older fragile X premutation male carriers
    Danuta Z Loesch
    School of Psychological Science, La Trobe University, Bundoora, Victoria, Australia
    Ann Neurol 58:326-30. 2005
  7. pmc Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism
    Danuta Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Victoria, Australia
    Genet Med 13:392-9. 2011
  8. ncbi request reprint Effect of Turner's syndrome and X-linked imprinting on cognitive status: analysis based on pedigree data
    Danuta Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Victoria 3086, Australia
    Brain Dev 27:494-503. 2005
  9. pmc Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism
    D Z Loesch
    School of Psychological Science, La Trobe University, Melbourne Bundoora, Victoria, Australia
    Clin Genet 76:471-6. 2009
  10. pmc Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats
    Danuta Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Victoria 3086, Australia
    J Med Genet 44:200-4. 2007

Collaborators

Detail Information

Publications38

  1. ncbi request reprint Unstable mutations in the FMR1 gene and the phenotypes
    Danuta Loesch
    Department of Psychology, LaTrobe University, Melbourne, Victoria, Australia
    Adv Exp Med Biol 769:78-114. 2012
    ....
  2. ncbi request reprint Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene
    D Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, VIC 3086, Australia
    Clin Genet 82:88-92. 2012
    ....
  3. pmc Directional and fluctuating asymmetry in finger and a-b ridge counts in psychosis: a case-control study
    Sukanta Saha
    Queensland Centre for Schizophrenia Research, The Park Centre for Mental Health, Wacol, QLD 4076, Australia
    BMC Psychiatry 3:3. 2003
    ..Because ridges are fully formed by the end of the second trimester, they may provide clues to disturbed early development. The aim of this study was to assess these measures in a sample of patients with psychosis and normal controls...
  4. ncbi request reprint White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism
    D Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Victoria, Australia
    Am J Med Genet B Neuropsychiatr Genet 156:502-6. 2011
    ....
  5. ncbi request reprint Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond
    D Z Loesch
    School of Psychological Science, La Trobe University, Victoria 3086, Auatralia
    Clin Genet 67:412-7. 2005
    ..In conclusion, the findings provide further evidence that the pre-mutation allele of FMR1 is a significant cause of late-onset neurodegeneration, presenting with a broad spectrum of clinical manifestations...
  6. ncbi request reprint Magnetic resonance imaging study in older fragile X premutation male carriers
    Danuta Z Loesch
    School of Psychological Science, La Trobe University, Bundoora, Victoria, Australia
    Ann Neurol 58:326-30. 2005
    ..Moreover, increased hippocampal volume indicates this premutation may account for both neurodegenerative and neurodevelopmental changes...
  7. pmc Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism
    Danuta Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Victoria, Australia
    Genet Med 13:392-9. 2011
    ..This study aimed to determine whether these alleles have a significant role in the manifestations and pathogenesis of parkinsonian disorders...
  8. ncbi request reprint Effect of Turner's syndrome and X-linked imprinting on cognitive status: analysis based on pedigree data
    Danuta Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Victoria 3086, Australia
    Brain Dev 27:494-503. 2005
    ..Possible reasons for the inconsistency of the results concerning X-linked imprinting of cognitive loci using TS patients are discussed, and the relevance of pedigree analysis to future studies of this problem is emphasized...
  9. pmc Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism
    D Z Loesch
    School of Psychological Science, La Trobe University, Melbourne Bundoora, Victoria, Australia
    Clin Genet 76:471-6. 2009
    ..33, 95% CI: 1.06-5.13), compared with controls. The results suggest that the FMR1 grey zone alleles, as well as premutation alleles, might contribute to the aetiology of disorders associated with parkinsonism...
  10. pmc Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats
    Danuta Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Victoria 3086, Australia
    J Med Genet 44:200-4. 2007
    ..Those alleles with a CGG repeat number ranging between approximately 41 and 55 are relatively poorly defined with regard to both transcriptional and translational activity, and also potential phenotypic effects...
  11. pmc Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X
    Danuta Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Vic, Australia
    Neurosci Biobehav Rev 31:315-26. 2007
    ..We also emphasize that FXS offers a unique molecular model for autism since FMRP regulates the translation of many other genes involved in synaptic formation and plasticity which should be natural targets for further exploration...
  12. ncbi request reprint Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats
    D Z Loesch
    School of Psychological Science, La Trobe University, Bundoora, Melbourne, Victoria 3086, Australia
    J Clin Neurosci 14:245-8. 2007
    ..If MRI changes precede clinical manifestation of FXTAS this may explain the low detection rate of fragile X carriers among patients with neurological syndromes associated with tremor/ataxia...
  13. ncbi request reprint Phenotypic variation and FMRP levels in fragile X
    Danuta Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Australia
    Ment Retard Dev Disabil Res Rev 10:31-41. 2004
    ..It is recommended that further studies should rely on more accurate measures of FMRP levels, and use of larger samples, to overcome extensive variability in the data...
  14. ncbi request reprint Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X
    Danuta Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Victoria, Australia
    Neuropsychology 17:646-57. 2003
    ..The other executive function deficits were accounted for by the general cognitive impairment. Possible mechanisms of the effect of fragile X premutation on impairments of executive functioning are considered...
  15. ncbi request reprint Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis
    D Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Victoria, Australia
    Am J Med Genet A 122:13-23. 2003
    ..Genetic variance estimated from the models accounts for less than half of the total variance in FSIQ, and it varies widely between individual Wechsler subtests...
  16. doi request reprint Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study
    David E Godler
    Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
    Clin Chem 58:590-8. 2012
    ..A detailed analysis of CpG sites bridging exon 1 and intron 1 of FMR1, known as fragile X-related epigenetic element 2 (FREE2), suggests that a simple blood test could identify these individuals...
  17. pmc Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty
    David E Godler
    Cyto molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens research Institute, Royal Children s Hospital, Melbourne, Victoria 3052, Australia
    Hum Mol Genet 22:1516-24. 2013
    ..The findings also highlight that the prognostic value of FXS methylation testing is not uniform between all CpG sites, and thus may need to be evaluated on a site-by-site basis...
  18. doi request reprint Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study
    Yoshimi Inaba
    Victorian Clinical Genetics Services and Murdoch Childrens research Institute, Royal Children s Hospital, Melbourne, Victoria, Australia
    Genet Med 15:290-8. 2013
    ....
  19. pmc FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles
    David E Godler
    Victorian Clinical Genetic Services, Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
    J Mol Diagn 13:528-36. 2011
    ..Because matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry is amenable to high-throughput processing and requires minimal DNA, these findings have implications for routine FXS testing and population screening...
  20. ncbi request reprint Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots
    Yoshimi Inaba
    Cyto molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens research Institute, Royal Children s Hospital, Melbourne, Victoria, Australia
    Clin Chem 60:963-73. 2014
    ....
  21. ncbi request reprint Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile x males and females assessed by robust pedigree analysis
    Danuta Z Loesch
    School of Psychological Science, La Trobe University, Melbourne d
    J Dev Behav Pediatr 23:416-23. 2002
    ..Possible mechanisms by which FMRP deficit impacts on specific weaknesses in fragile X are considered on the basis of present data...
  22. doi request reprint Behavioural and cognitive phenotypes in idiopathic autism versus autism associated with fragile X syndrome
    Cheryl Dissanayake
    School of Psychological Science, La Trobe University, Victoria, Australia
    J Child Psychol Psychiatry 50:290-9. 2009
    ..Parental effects associated with each type of autism also serve to cast light on the biological underpinnings of autism...
  23. ncbi request reprint Autism spectrum phenotype in males and females with fragile X full mutation and premutation
    Sally Clifford
    School of Psychological Science, La Trobe University, Victoria, Australia
    J Autism Dev Disord 37:738-47. 2007
    ..In the premutation group, 14% males and 5% females met the ADOS-G criteria for ASD. The presence of autism manifestations in males and females with full mutation and premutation provide support for a spectrum view...
  24. ncbi request reprint Application of robust pedigree analysis in studies of complex genotype-phenotype relationships in fragile X syndrome
    D Z Loesch
    Department of Psychology, La Trobe University, Melbourne, Victoria, Australia
    Am J Med Genet 107:136-42. 2002
    ..The findings support the hypothesis that the fragile X mutation affects limb development during an early fetal period...
  25. ncbi request reprint Hierarchical Bayes model for random haplotype and family effects in the transmission of fragile-X
    R M Huggins
    Department of Statistical Science, La Trobe University, Melbourne, Victoria, Australia
    Genet Epidemiol 26:294-304. 2004
    ..The results demonstrate both the FRAXAC1-DXS458 haplotype and family effects on the transmission of CGG repeats from mother to offspring...
  26. ncbi request reprint Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: a new perspective
    D Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Victoria, Australia
    Am J Med Genet A 118:127-34. 2003
    ..On the basis of the present data, a possible mechanism by which the FMRP deficit impacts physical phenotype is discussed...
  27. ncbi request reprint Analysis of longitudinal data from twins
    R M Huggins
    Department of Statistical Science, La Trobe University, Bundoora, Australia
    Genet Epidemiol 19:345-53. 2000
    ..The model is fitted using robust statistical methods and a bootstrap procedure is proposed to estimate the percentiles. The method is applied to longitudinal twin data on body mass index in male and female twin pairs aged 5-18 years...
  28. ncbi request reprint FMR1 alleles in Tasmania: a screening study of the special educational needs population
    R J Mitchell
    Department of Genetics and Human Variation, School of Molecular Sciences, La Trobe University, Melbourne, Australia
    Clin Genet 67:38-46. 2005
    ..The eight to ten generations since white settlement of Tasmania has been insufficient time for susceptible grey zone alleles to evolve into the larger expansions...
  29. ncbi request reprint Melatonin profiles and sleep characteristics in boys with fragile X syndrome: a preliminary study
    E L Gould
    School of Psychological Science, La Trobe University, Bundoora, Victoria, Australia
    Am J Med Genet 95:307-15. 2000
    ..Alternative molecular mechanisms leading to changes in melatonin profiles in fragile X are also discussed...
  30. ncbi request reprint "Reduction" of CGG trinucleotide expansion from mother to offspring in seven fragile-X families
    D Z Loesch
    School of Psychology, Faculty of Science and Technology, La Trobe University, Bundoora, Australia
    Clin Genet 51:1-6. 1997
    ..Several mechanisms leading to apparent reduction, such as germline mosaicism, deletion or replication slippage, should be considered...
  31. ncbi request reprint On the analysis of mixed longitudinal growth data
    R M Huggins
    School of Statistical Science, La Trobe University, Bundoora, Australia
    Biometrics 54:583-95. 1998
    ....
  32. pmc Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders
    David E Godler
    Chromosome and Chromatin Research, Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
    BMC Clin Pathol 9:5. 2009
    ..Although, this strategy clearly has application for improved assessment of FMR1 mRNA toxicity in blood, it may also have more general implications for gene expression studies in fresh and archival tissues...
  33. ncbi request reprint Growth in stature and head circumference in high-functioning autism and Asperger disorder during the first 3 years of life
    Cheryl Dissanayake
    School of Psychological Science, La Trobe University, Victoria, Australia
    Dev Psychopathol 18:381-93. 2006
    ..A trend toward higher growth rate in head circumference was also found among the former group. The results indicate that growth dysregulation in autism is not specific to the brain but also involves growth in stature...
  34. ncbi request reprint Secular trend in body height and weight of Australian children and adolescents
    D Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Bundoora, Victoria 3083, Australia
    Am J Phys Anthropol 111:545-56. 2000
    ..The need for further studies to identify factors determining the continuing increase in body weight is emphasized, and caution in using the existing national growth standards for stature and weight is recommended...
  35. ncbi request reprint Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome
    Jim Grigsby
    Department of Medicine, University of Colorado at Denver and Health Sciences Center, Aurora, CO 80045 5701, USA
    Mov Disord 22:645-50. 2007
    ....
  36. ncbi request reprint Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation
    David Hessl
    Medical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
    Am J Med Genet B Neuropsychiatr Genet 139:115-21. 2005
    ....
  37. ncbi request reprint Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS)
    Jim Grigsby
    Department of Medicine, University of Colorado Health Sciences Center, Aurora, CO 80045, USA
    J Neurol Sci 248:227-33. 2006
    ..The results provide evidence that FXTAS involves marked impairment of executive cognitive abilities...
  38. ncbi request reprint Ridgecounter: a program for obtaining semi-automated finger ridge counts
    Sarah E Medland
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Australia
    Ann Hum Biol 34:504-17. 2007
    ..962) (the prints were obtained 2 years apart and counted by the same researcher). Although designed for use with fingerprints, the program is suitable for use with palm, foot or toe prints using user-defined landmarks...