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Dora Angelicheva

Research Profile

Living Beings

Gypsies

Phenomena

Founder Effect

Physiology

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Bulgaria

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Disorders

Procedures

Chemicals & Drugs

Genes & Molecular Sequences

Recessive Genes

Anatomy

Chromosomes, Human, Pair 8

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Publications

TOP 3
Assen Jablensky; S MacGregor; A McRae; Bharti Morar; D W Morris; M Phillips; Oliver Rackham; Kim Rasmussen; A Usheva; P L Verbrugghe; C S Weickert; Boian Alexandrov; Osvaldo P Almeida; Dora Angelicheva; D N Azmanov; Johanna Badcock; A R Bishop; E Bramon-Bosch; Kim Carter; David Chandler; M Cooper; Aiden Corvin; Mark Nicholas Cruickshank; Gary Donohoe; Milan Dragovic; Aleksandra Filipovska; Leon Flicker; M Gill; Luba Kalaydjieva
Promoter polymorphisms in two overlapping 6p25 genes implicate mitochondrial proteins in cognitive deficit in schizophrenia.
Velina Guergueltcheva; RAdka Kaneva; Ara Kaprelyan; Bharti Morar; Thai Nguyen; Katherine R Smith; Ivailo Tournev; Dora Angelicheva; Lyudmila Angelova; Dimitar N Azmanov; Melanie Bahlo; Veneta Bojinova; Michael Bynevelt; Teodora Chamova; David Chandler; Sylvia Cherninkova; Laura Florez; Luba Kalaydjieva
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Mohammed Akli Ayoub; Juleen A Cavanaugh; David Chandler; Assen Jablensky; Bharti Morar; Kevin D G Pfleger; David Vile; Peter M Visscher; Dora Angelicheva; Luba Kalaydjieva
Deleterious GRM1 mutations in schizophrenia.

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All Publications

2012: Assen Jablensky; S MacGregor; A McRae; Bharti Morar; D W Morris; M Phillips; Oliver Rackham; Kim Rasmussen; A Usheva; P L Verbrugghe; C S Weickert; Boian Alexandrov; Osvaldo P Almeida; Dora Angelicheva; D N Azmanov; Johanna Badcock; A R Bishop; E Bramon-Bosch; Kim Carter; David Chandler; M Cooper; Aiden Corvin; Mark Nicholas Cruickshank; Gary Donohoe; Milan Dragovic; Aleksandra Filipovska; Leon Flicker; M Gill; Luba Kalaydjieva
Promoter polymorphisms in two overlapping 6p25 genes implicate mitochondrial proteins in cognitive deficit in schizophrenia.
Molecular psychiatry 2012;17(12):1328-39.
2012: Velina Guergueltcheva; RAdka Kaneva; Ara Kaprelyan; Bharti Morar; Thai Nguyen; Katherine R Smith; Ivailo Tournev; Dora Angelicheva; Lyudmila Angelova; Dimitar N Azmanov; Melanie Bahlo; Veneta Bojinova; Michael Bynevelt; Teodora Chamova; David Chandler; Sylvia Cherninkova; Laura Florez; Luba Kalaydjieva
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
American journal of human genetics 2012;91(3):553-64.
2012: Mohammed Akli Ayoub; Juleen A Cavanaugh; David Chandler; Assen Jablensky; Bharti Morar; Kevin D G Pfleger; David Vile; Peter M Visscher; Dora Angelicheva; Luba Kalaydjieva
Deleterious GRM1 mutations in schizophrenia.
PloS one 2012;7(3):e32849.
2011: Bharti Morar; Melania Radionova; Ingrid E Scheffer; Ivailo Tournev; Sashka Zhelyazkova; Dora Angelicheva; Dimitar N Azmanov; Velina Guergueltcheva; Luba Kalaydjieva; RAdka Kaneva; Josemir W. Sander
A novel GEFS+ locus on 12p13.33 in a large Roma family.
Epilepsy research 2011;97(1-2):198-207.
2011: Dimitar N Azmanov; Luba Kalaydjieva; RAdka Kaneva; Bharti Morar; Melania Radionova; Ivailo Tournev; Sashka Zhelyazkova; Dora Zlatareva; Dora Angelicheva; Josemir W. Sander
Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3.
Epilepsy research 2011;96(1-2):101-8.
2011: Rosalind H M King; David Chandler; Sash Lopaticki; Dexing Huang; Julian Blake; John R Muddle; Trevor Kilpatrick; Michelle Nourallah; Toshiyuki Miyata; Tomohiko Okuda; Kim W Carter; Michael Hunter; Dora Angelicheva; Grant Morahan; Luba Kalaydjieva
Ndrg1 in development and maintenance of the myelin sheath.
Neurobiology of disease 2011;42(3):368-80.
2009: Janina Hantke; David Chandler; Rosalind King; Ronald J A Wanders; Dora Angelicheva; Ivailo Tournev; Elyshia McNamara; Marcel Kwa; Velina Guergueltcheva; RAdka Kaneva; Frank Baas; Luba Kalaydjieva
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).
European journal of human genetics : EJHG 2009;17(12):1606-14.
2009: Dora Angelicheva; Ivailo Tournev; Velina Guergueltcheva; Violeta Mihaylova; Dimitar N Azmanov; Bharti Morar; Melania Radionova; Shelagh J Smith; Dora Zlatareva; John M Stevens; RAdka Kaneva; Veneta Bojinova; Kim Carter; Matthew Brown; Assen Jablensky; Luba Kalaydjieva; Josemir W Sander
Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.
Epilepsia 2009;50(7):1679-88.
2009: RAdka Kaneva; vihra milanova; Dora Angelicheva; Stuart MacGregor; Christian Kostov; Rositza Vladimirova; Spiridon Aleksiev; Mina Angelova; Vesela S Stoyanova; Angeline Loh; Joachim Hallmayer; Luba Kalaydjieva; Assen Jablensky
Bipolar disorder in the Bulgarian Gypsies: genetic heterogeneity in a young founder population.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(2):191-201.
2008: P Sivadorai; S Cherninkova; S Bouwer; K Kamenarova; Dora Angelicheva; P Seeman; K Hollingsworth; V Mihaylova; A Oscar; G Dimitrova; RAdka Kaneva; Ivailo Tournev; Luba Kalaydjieva
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.
Clinical genetics 2008;74(1):82-7.
2007: S T Bouwer; E Coto; F Santos; Dora Angelicheva; David Chandler; Luba Kalaydjieva
The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe.
Kidney international 2007;72(7):898.
2007: Violeta Mihaylova; Janina Hantke; Ivanka Sinigerska; Sylvia Cherninkova; Margarita Raicheva; Sonja Bouwer; Radka Tincheva; Djako Khuyomdziev; Jaume Bertranpetit; David Chandler; Dora Angelicheva; Ivo Kremensky; Pavel Seeman; Ivailo Tournev; Luba Kalaydjieva
Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.
Brain : a journal of neurology 2007;130(Pt 4):1050-61.
2007: Sonja Bouwer; Dora Angelicheva; David Chandler; Pavel Seeman; Ivailo Tournev; Luba Kalaydjieva
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
Genetic testing 2007;11(4):455-8.
2006: Jaume Colomer; Rebecca Gooding; Dora Angelicheva; Rosalind H M King; Encarna Guillén-Navarro; Yesim Parman; Andres Nascimento; Joan Conill; Luba Kalaydjieva
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.
Neuromuscular disorders : NMD 2006;16(7):449-53.
2005: Rebecca Gooding; Jaume Colomer; R King; Dora Angelicheva; L Marns; Y Parman; David Chandler; Jaume Bertranpetit; Luba Kalaydjieva
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.
Journal of medical genetics 2005;42(12):e69.
2005: Michael Hunter; Dora Angelicheva; Ivailo Tournev; Evan Ingley; Dick C Chan; Gerald F Watts; Ivo Kremensky; Luba Kalaydjieva
NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24.
Biochemical and biophysical research communications 2005;332(4):982-92.
2004: Bharti Morar; David Gresham; Dora Angelicheva; Ivailo Tournev; Rebecca Gooding; Velina Guergueltcheva; Carolin Schmidt; Angela Abicht; Hanns Lochmuller; Attila Tordai; Lajos Kalmár; Melinda Nagy; Veronika Karcagi; Marc Jeanpierre; Agnes Herczegfalvi; David Beeson; Viswanathan Venkataraman; Kim Warwick Carter; Jeff Reeve; Rosario de Pablo; Vaidutis Kucinskas; Luba Kalaydjieva
Mutation history of the roma/gypsies.
American journal of human genetics 2004;75(4):596-609.
2003: Raymonda Varon; Rebecca Gooding; Christina Steglich; Lorna Marns; Hua Tang; Dora Angelicheva; Kiau Kiun Yong; Petra Ambrugger; Anke Reinhold; Bharti Morar; Frank Baas; Marcel Kwa; Ivailo Tournev; Velina Guerguelcheva; Ivo Kremensky; Hanns Lochmüller; Andrea Müllner-Eidenböck; Luciano Merlini; Luitgard Neumann; Joachim Bürger; Maggie Walter; Kathryn Swoboda; PK Thomas; Arpad von Moers; Neil Risch; Luba Kalaydjieva
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Nature genetics 2003;35(2):185-9.
2002: Michael Hunter; Evelyne Heyer; Frédéric Austerlitz; Dora Angelicheva; Vania Nedkova; Paz Briones; Anna Gata; Rosario de Pablo; Aranka László; Nils U Bosshard; Richard Gitzelmann; Attila Tordai; Lajos Kalmár; Csaba Szalai; Istvan Balogh; Contantin Lupu; Axinia Corches; Gabriela Popa; Anna Perez-Lezaun; Luba Kalaydjieva
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
Pediatric research 2002;51(5):602-6.
2002: Marie McCluskey; Tina Schiavello; Michael Hunter; Janina Hantke; Dora Angelicheva; Nadja Bogdanova; Arseni Markoff; Mark Thomas; Bernd Dworniczak; Jürgen Horst; Luba Kalaydjieva
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.
Human mutation 2002;19(3):240-50.
2002: Luciano Merlini; Rebecca Gooding; Hanns Lochmüller; Wolfgang Müller-Felber; Maggie C Walter; Dora Angelicheva; Beril Talim; Joachim Hallmayer; Luba Kalaydjieva
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
Neurology 2002;58(2):231-6.
2001: Tina Schiavello; V Burke; Nadja Bogdanova; P Jasik; S Melsom; N Boudville; K Robertson; Dora Angelicheva; Bernd Dworniczak; M Lemmens; Jürgen Horst; Vassil Todorov; D Dimitrakov; Wladyslaw Sulowicz; Andrzej Krasniak; T Stompor; L Beilin; Joachim Hallmayer; Luba Kalaydjieva; Mark Thomas
Angiotensin-converting enzyme activity and the ACE Alu polymorphism in autosomal dominant polycystic kidney disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2001;16(12):2323-7.
2001: David Gresham; Bharti Morar; Peter A Underhill; Giuseppe Passarino; Alice A Lin; Cheryl A Wise; Dora Angelicheva; Francesc Calafell; Peter J Oefner; P Shen; Ivailo Tournev; Rosario de Pablo; V Kuĉinskas; Anna Perez-Lezaun; E Marushiakova; V Popov; Luba Kalaydjieva
Origins and divergence of the Roma (gypsies).
American journal of human genetics 2001;69(6):1314-31.
2001: PK Thomas; Luba Kalaydjieva; B Youl; Tamara Rogers; Dora Angelicheva; Rosalind H M King; Velina Guergueltcheva; Jaume Colomer; Contantin Lupu; Axinia Corches; G Popa; Luciano Merlini; Alexander Shmarov; John R Muddle; Michelle Nourallah; Ivailo Tournev
Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies.
Annals of neurology 2001;50(4):452-7.
2001: Luba Kalaydjieva; Francesc Calafell; Mark A Jobling; Dora Angelicheva; Peter de Knijff; Zoë H Rosser; Matthew E Hurles; Peter A Underhill; Ivailo Tournev; E Marushiakova; V Popov
Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages.
European journal of human genetics : EJHG 2001;9(2):97-104.
2001: Michael Hunter; Dora Angelicheva; H L Levy; Siegfried Pueschel; Luba Kalaydjieva
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
Human mutation 2001;17(1):77-8.
2000: David Chandler; Dora Angelicheva; L Heather; Rebecca Gooding; David Gresham; Peter Ianakiev; Rosalein R De Jonge; Frank Baas; Danielle E Dye; L Karagyozov; Alexey Savov; K Blechschmidt; B Keats; PK Thomas; Rosalind H M King; Arnold Starr; A Nikolova; Jaume Colomer; Boryana Ishpekova; Ivailo Tournev; J Andoni Urtizberea; Luciano Merlini; Dusan Butinar; B Chabrol; Thomas Voit; M Baethmann; Vania Nedkova; Axinia Corches; Luba Kalaydjieva
Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries.
Neuromuscular disorders : NMD 2000;10(8):584-91.
2000: Jaume Colomer; C Iturriaga; Luba Kalaydjieva; Dora Angelicheva; Rosalind H M King; PK Thomas
Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies.
Neuromuscular disorders : NMD 2000;10(8):578-83.
2000: Tamara Rogers; David Chandler; Dora Angelicheva; PK Thomas; B Youl; Ivailo Tournev; V Gergelcheva; Luba Kalaydjieva
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.
American journal of human genetics 2000;67(3):664-71.
2000: Luba Kalaydjieva; David Gresham; Rebecca Gooding; L Heather; Frank Baas; Rosalein R De Jonge; K Blechschmidt; Dora Angelicheva; David Chandler; P Worsley; A Rosenthal; Rosalind H M King; PK Thomas
N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.
American journal of human genetics 2000;67(1):47-58.
1999: Luba Kalaydjieva; Anna Perez-Lezaun; Dora Angelicheva; S Onengut; Danielle E Dye; Nils U Bosshard; Albena Jordanova; Alexey Savov; Peter Ianakiev; Ivo Kremensky; B Radeva; Joachim Hallmayer; A Markov; Vania Nedkova; Ivailo Tournev; L Aneva; Richard Gitzelmann
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
American journal of human genetics 1999;65(5):1299-307.
1999: Dora Angelicheva; Ivajlo Turnev; Danielle E Dye; David Chandler; PK Thomas; Luba Kalaydjieva
Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter.
European journal of human genetics : EJHG 1999;7(5):560-6.
1999: Dusan Butinar; Janez Zidar; L Leonardis; Mara Popovic; Luba Kalaydjieva; Dora Angelicheva; Y Sininger; B Keats; Arnold Starr
Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred.
Annals of neurology 1999;46(1):36-44.
1997: Dora Angelicheva; Francesc Calafell; Alexey Savov; Albena Jordanova; A Kufardjieva; I Galeva; Vania Nedkova; T Ivanova; P Yankova; Darina V Konstantinova; E Genev; Luba Kalaydjieva
Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study.
Human genetics 1997;99(4):513-20.
1997: Albena Jordanova; Luba Kalaydjieva; Alexey Savov; M Claustres; M Schwarz; X Estivill; Dora Angelicheva; A Haworth; T Casals; Ivo Kremensky
SSCP analysis: a blind sensitivity trial.
Human mutation 1997;10(1):65-70.
1996: Luba Kalaydjieva; Joachim Hallmayer; D Chandler; Alexey Savov; A Nikolova; Dora Angelicheva; Rosalind H M King; Boryana Ishpekova; K Honeyman; Francesc Calafell; A Shmarov; Julia Petrova; I Turnev; A Hristova; M Moskov; S Stancheva; I Petkova; A H Bittles; V Georgieva; Lefkos T Middleton; PK Thomas
Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24.
Nature genetics 1996;14(2):214-7.
1996: Alexey Savov; Dora Angelicheva; Albena Jordanova; Ivo Kremensky; Luba Kalaydjieva
2176insC: a novel mutation in exon 13 of the cystic fibrosis gene.
Human heredity 1996;46(3):166-7.
1996: Francesc Calafell; P Underhill; A Tolun; Dora Angelicheva; Luba Kalaydjieva
From Asia to Europe: mitochondrial DNA sequence variability in Bulgarians and Turks.
Annals of human genetics 1996;60(Pt 1):35-49.
1995: Alexey Savov; Dora Angelicheva; A Balassopoulou; Albena Jordanova; S Noussia-Arvanitakis; Luba Kalaydjieva
Double mutant alleles: are they rare?
Human molecular genetics 1995;4(7):1169-71.
1995: R Varon; Manfred Stuhrmann; Milan Macek Jr.; A Kufardjieva; Dora Angelicheva; Klaus Magdorf; Albena Jordanova; Alexey Savov; Ulrich Wahn; M Macek
Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.
Human mutation 1995;6(3):219-25.
1994: Alexey Savov; Albena Jordanova; D Gavrilov; Dora Angelicheva; Luba Kalaydjieva
G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.
Human molecular genetics 1994;3(3):513-4.
1994: Dora Angelicheva; K Boteva; Albena Jordanova; Alexey Savov; A Kufardjieva; A Tolun; Milhan Telatar; A Akarsubaşi; F Köprübaşi; S Aydoğdu
Cystic fibrosis patients from the Black Sea region: the 1677delTA mutation.
Human mutation 1994;3(4):353-7.
1992: Alexey Savov; Dora Angelicheva; Albena Jordanova; Antonin Eigel; Luba Kalaydjieva
High percentage acrylamide gels improve resolution in SSCP analysis.
Nucleic acids research 1992;20(24):6741-2.
1991: Luba Kalaydjieva; Dora Angelicheva; I Galeva; V Lalov; D Konstantinova
Cystic fibrosis in Bulgaria.
Journal of medical genetics 1991;28(11):807.