Luba Kalaydjieva Professor
Luba Kalaydjieva
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7 years ago
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Contact Info

Luba Kalaydjieva
Luba Kalaydjieva
Professor
Female
74 years
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Work

Western Australian Institute for Medical Research
Professor
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  • Genetics
  • Methodological aspects
  • Screening and testing
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1.Kalaydjieva L et al.(1996) Gene mapping in Gypsies identifies a novel demyelinating neuropathy on 8q24. Nature Genet 14: 214-216.
2. Kalaydjieva L et al.(1998) Hereditary motor and sensory neuropathy Lom, a novel demyelinating neuropathy associated with deafness in gypsies - clinical, electrophysiological and nerve biospy findings. Brain 121: 399-408.
3. Angelicheva D, Turnev I, Dye D, Chandler D, Thomas PK, Kalaydjieva L (1999) Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter. Eur J Hum Genet 7:560-566.
4. Tournev I, Kalaydjieva L et al.(1999) Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations. Ann Neurol 45:742-750.
5. Kalaydjieva L et al. (1999) A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Gypsies. Am J Hum Genet 65:1299-1307.
6. Kalaydjieva L et al.(2001) Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages. Eur J Hum Genet 9:97-104.
7. Kalaydjieva L et al. (2001) Genetic studies of the Roma (Gypsies): a review. BMC Med Genet 2:5.
8. Thomas PK, Kalaydjieva L et al. (2001) Hereditary motor and sensory neuropathy-Russe: new autosomal recessive neuropathy in Balkan Gypsies. Ann Neurol 50:452-457.
9. Gresham D..... Kalaydjieva L (2001) Origins and divergence of the Roma (Gypsies). Am J Hum Genet 69:1314-1331.
10. Hunter M... Kalaydjieva L (2002) The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. Pediatr Res 51:602-606.
11. Varon R... Kalaydjieva L (2003) Partial deficiency of the C-terminal domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nature Genet 35:185-189.
12. Chaix R, Austerlitz F, Morar B, Kalaydjieva L, Heyer E (2004) Vlax Roma history: what do coalescent-based methods tell us. Eur J Hum Genet, 12:285-292.
13. Morar B... Kalaydjieva L (2004) Mutation history of the Roma/Gypsies. Am J Hum Genet 75:596-609.
14. Kalaydjieva L et al. (2005) 125th ENMC International Workshop: Neuromuscular Disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands. Neuromuscular Disorders 15:65-71.
15. Kalaydjieva L et al. (2005) A newly discovered founder population: the Roma/Gypsies. BioEssays, 27: 1084-1094.
16. Sinigerska I... Kalaydjieva L (2006) Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population. Mol Genet Metab 88:93-95.
17. Mihaylova V... Kalaydjieva L (2007) Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation. Brain 130:1050-1061.
18. Azmanov DN... Kalaydjieva L. (2010) LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population. Eur J Hum Genet. 19:326-333.
19. Chamova T... Kalaydjieva L, Tournev I. (2011) ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies. J Neurol 2011 Oct 19. (Epub ahead of print).
WAIMR-Seminar2012_Biosketch_508a01d37d52c.doc WAIMR-Seminar2012_Biosketc.doc

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