L Kalaydjieva

Summary

Affiliation: Edith Cowan University
Country: Australia

Publications

  1. ncbi request reprint Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages
    L Kalaydjieva
    Centre for Human Genetics, Edith Cowan University, Perth, Australia
    Eur J Hum Genet 9:97-104. 2001
  2. pmc N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom
    L Kalaydjieva
    Centre for Human Genetics, Edith Cowan University, Perth, Australia
    Am J Hum Genet 67:47-58. 2000
  3. pmc A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)
    L Kalaydjieva
    Centre for Human Genetics, Edith Cowan University, Joondalup Campus, Perth WA 6027, Australia
    Am J Hum Genet 65:1299-307. 1999
  4. pmc A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23
    T Rogers
    Centre for Human Genetics, Edith Cowan University Joondalup Campus, Perth, WA 6027, Australia
    Am J Hum Genet 67:664-71. 2000
  5. doi request reprint Neuregulin 3 (NRG3) as a susceptibility gene in a schizophrenia subtype with florid delusions and relatively spared cognition
    B Morar
    Centre for Medical Research Western Australian Institute for Medical Research, The University of Western Australia, Perth, WA, Australia
    Mol Psychiatry 16:860-6. 2011
  6. pmc A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
    R Gooding
    Laboratory for Molecular Genetics, Western Australian Institute for Medical Research, Centre for Medical Research, The University of Western Australia, Perth, Australia
    J Med Genet 42:e69. 2005
  7. pmc Origins and divergence of the Roma (gypsies)
    D Gresham
    Centre for Human Genetics, Edith Cowan University, Perth, WA, Australia
    Am J Hum Genet 69:1314-31. 2001
  8. doi request reprint Promoter polymorphisms in two overlapping 6p25 genes implicate mitochondrial proteins in cognitive deficit in schizophrenia
    A Jablensky
    Centre for Clinical Research in Neuropsychiatry, The University of Western Australia, Perth, WA, Australia
    Mol Psychiatry 17:1328-39. 2012
  9. ncbi request reprint Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter
    D Angelicheva
    Centre for Human Genetics, Edith Cowan University, Perth, Australia
    Eur J Hum Genet 7:560-6. 1999
  10. doi request reprint Polymorphisms associated with normal memory variation also affect memory impairment in schizophrenia
    A Jablensky
    Centre for Clinical Research in Neuropsychiatry and School of Psychiatry and Clinical Neurosciences, University of Western Australia, Perth, Australia
    Genes Brain Behav 10:410-7. 2011

Collaborators

Detail Information

Publications24

  1. ncbi request reprint Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages
    L Kalaydjieva
    Centre for Human Genetics, Edith Cowan University, Perth, Australia
    Eur J Hum Genet 9:97-104. 2001
    ..The study unambiguously points to the common origins of the three Vlax groups and the recent nature of the population fissions, and provides preliminary evidence of limited genetic diversity in this young founder population...
  2. pmc N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom
    L Kalaydjieva
    Centre for Human Genetics, Edith Cowan University, Perth, Australia
    Am J Hum Genet 67:47-58. 2000
    ..Taken together, these findings point to NDRG1 having a role in the peripheral nervous system, possibly in the Schwann-cell signaling necessary for axonal survival...
  3. pmc A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)
    L Kalaydjieva
    Centre for Human Genetics, Edith Cowan University, Joondalup Campus, Perth WA 6027, Australia
    Am J Hum Genet 65:1299-307. 1999
    ..The P28T carrier rate in this endogamous population is approximately 5%, suggesting that the mutation may be an important cause of early childhood blindness in countries with a sizeable Roma minority...
  4. pmc A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23
    T Rogers
    Centre for Human Genetics, Edith Cowan University Joondalup Campus, Perth, WA 6027, Australia
    Am J Hum Genet 67:664-71. 2000
    ..The homozygosity region is contained in bacterial-artificial-chromosome contig 1570 of the Sanger Centre physical map and has an estimated physical size of approximately 500 kb...
  5. doi request reprint Neuregulin 3 (NRG3) as a susceptibility gene in a schizophrenia subtype with florid delusions and relatively spared cognition
    B Morar
    Centre for Medical Research Western Australian Institute for Medical Research, The University of Western Australia, Perth, WA, Australia
    Mol Psychiatry 16:860-6. 2011
    ..The two single-nucleotide polymorphisms are in close proximity to the alternative first exons of the NRG3-a, -b and -d isoforms, of which the human brain-specific NRG-b appears to be the most interesting candidate...
  6. pmc A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
    R Gooding
    Laboratory for Molecular Genetics, Western Australian Institute for Medical Research, Centre for Medical Research, The University of Western Australia, Perth, Australia
    J Med Genet 42:e69. 2005
    ..Arg1109X is an ancestral mutation which occurs in Gypsy populations across Europe and is the most common cause of autosomal recessive Charcot-Marie-Tooth disease in Spanish Gypsies...
  7. pmc Origins and divergence of the Roma (gypsies)
    D Gresham
    Centre for Human Genetics, Edith Cowan University, Perth, WA, Australia
    Am J Hum Genet 69:1314-31. 2001
    ..By contrast, social organization and professional group divisions appear to be the product of a more recent restitution of the caste system of India...
  8. doi request reprint Promoter polymorphisms in two overlapping 6p25 genes implicate mitochondrial proteins in cognitive deficit in schizophrenia
    A Jablensky
    Centre for Clinical Research in Neuropsychiatry, The University of Western Australia, Perth, WA, Australia
    Mol Psychiatry 17:1328-39. 2012
    ..LYRM4 downregulation may be one of the mechanisms involved in inefficient oxidative phosphorylation and oxidative stress, increasingly recognised as contributors to schizophrenia pathogenesis...
  9. ncbi request reprint Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter
    D Angelicheva
    Centre for Human Genetics, Edith Cowan University, Perth, Australia
    Eur J Hum Genet 7:560-6. 1999
    ..CCFDN co-localises with an EST which shows high homology to a conserved Drosophila gene involved in the regulation of nervous system development in vertebrates...
  10. doi request reprint Polymorphisms associated with normal memory variation also affect memory impairment in schizophrenia
    A Jablensky
    Centre for Clinical Research in Neuropsychiatry and School of Psychiatry and Clinical Neurosciences, University of Western Australia, Perth, Australia
    Genes Brain Behav 10:410-7. 2011
    ..Our study supports the utility of parsing the broad phenotype of schizophrenia into component cognitive endophenotypes that reduce heterogeneity and enable the capture of potentially important genetic associations...
  11. ncbi request reprint Novel mutations in the GALK1 gene in patients with galactokinase deficiency
    M Hunter
    Centre for Human Genetics, Edith Cowan University, Perth, Western Australia
    Hum Mutat 17:77-8. 2001
    ..Some differences with the GALK1 sequence deposited in Genbank are also reported...
  12. doi request reprint Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies
    P Sivadorai
    Laboratory of Molecular Genetics, Western Australian Institute for Medical Research, Centre for Medical Research, The University of Western Australia, Perth, Australia
    Clin Genet 74:82-7. 2008
    ..The molecular basis of PCG in the Gypsies is thus unresolved, and diagnostic analyses should be extended beyond the E387K mutation...
  13. ncbi request reprint Angiotensin-converting enzyme activity and the ACE Alu polymorphism in autosomal dominant polycystic kidney disease
    T Schiavello
    Centre for Human Genetics, Edith Cowan University, Joondalup, Perth, WA, Australia
    Nephrol Dial Transplant 16:2323-7. 2001
    ..This investigation examines the association between ADPKD severity and ACE in terms of plasma enzyme activity and I/D genotypes in individuals from three different countries...
  14. ncbi request reprint Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes
    L Merlini
    Neuromuscular Unit, Istituto Ortopedico Rizzoli, Bologna, Italy
    Neurology 58:231-6. 2002
    ....
  15. ncbi request reprint Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene
    B Mercier
    Centre de Biogenetique, CDTS, Brest, France
    Genomics 16:296-7. 1993
  16. ncbi request reprint Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies
    P K Thomas
    Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK
    Ann Neurol 50:452-7. 2001
    ..There was loss of larger myelinated nerve fibers and profuse regenerative activity in the sural nerve. HMSN-R is a new form of autosomal recessive inherited HMSN caused by a single founder mutation in a 1 Mb interval on chromosome 10q...
  17. ncbi request reprint Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24
    L Kalaydjieva
    Laboratory of Molecular Pathology, Medical University, Sofia, Bulgaria
    Nat Genet 14:214-7. 1996
    ..We show that the disease, occurring in Gypsy groups of different identity and history of migrations, is caused by a single mutation whose origin predates the divergence of these groups...
  18. ncbi request reprint The gene for the human Src-like adaptor protein (hSLAP) is located within the 64-kb intron of the thyroglobulin gene
    P H Meijerink
    Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands
    Eur J Biochem 254:297-303. 1998
    ..Human slap is located in the candidate region for a recessive demyelinating neuropathy on chromosome 8q24, but sequence analysis failed to identify mutations, suggesting that it is not the gene for this disease...
  19. ncbi request reprint Vlax Roma history: what do coalescent-based methods tell us?
    R Chaix
    Equipe de Génétique des Populations, Unité d Eco Anthropologie, Musée de l Homme, Paris, France
    Eur J Hum Genet 12:285-92. 2004
    ..This represents a considerable contribution to the Vlax Roma history in comparison with the inferences from classical population genetics...
  20. ncbi request reprint Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe
    B Dworniczak
    Institute of Human Genetics, WWU, Munster, Germany
    Genomics 11:242-6. 1991
    ..This loss of enzyme activity is probably caused by conformational changes resulting from the insertion of three additional amino acids (Gly-Leu-Gln) between the normal sequences encoded by exon 10 and exon 11...
  21. ncbi request reprint The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe
    S T Bouwer
    Kidney Int 72:898. 2007
  22. pmc Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria
    L Kalaydjieva
    Laboratory of Molecular Pathology, Medical Academy, Sofia, Bulgaria
    J Med Genet 28:686-90. 1991
    ....
  23. ncbi request reprint Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects
    H Nomura
    Renal Division, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
    J Biol Chem 273:25967-73. 1998
    ..The mouse homologue of PKDL is deleted in Krd mice, a deletion mutant with defects in the kidney and eye. We propose that PKDL is an excellent candidate for as yet unmapped cystic diseases in man and animals...
  24. ncbi request reprint A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1
    A Eigel
    Institut für Humangenetik der Universität, Munster, Federal Republic of Germany
    Hum Genet 87:739-41. 1991
    ..In addition, we were able to show that the newly detected mutation occurs on alleles of different ethnic background...