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Luba Kalaydjieva

Research Profile

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Gypsies

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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.
Phebe Verbrugghe; Steven Wiltshire; Grant Montgomery; Bharti Morar; Muhammad F M Razif; Osvaldo P Almeida; Johanna Badcock; Sonja Bouwer; Vaughan Carr; Kim Carter; David Chandler; Matthew Cooper; Milan Dragovic; Leon Flicker; Anjali K Henders; Assen Jablensky; Luba Kalaydjieva
Impact of the Reelin signaling cascade (ligands-receptors-adaptor complex) on cognition 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: Phebe Verbrugghe; Steven Wiltshire; Grant Montgomery; Bharti Morar; Muhammad F M Razif; Osvaldo P Almeida; Johanna Badcock; Sonja Bouwer; Vaughan Carr; Kim Carter; David Chandler; Matthew Cooper; Milan Dragovic; Leon Flicker; Anjali K Henders; Assen Jablensky; Luba Kalaydjieva
Impact of the Reelin signaling cascade (ligands-receptors-adaptor complex) on cognition in schizophrenia.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2012;159B(4):392-404.
2012: Teodora Chamova; Laura Florez; Velina Guergueltcheva; Luba Kalaydjieva; RAdka Kaneva; Hanns Lochmüller; Margarita Raycheva; Ivailo Tournev
ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.
Journal of neurology 2012;259(5):906-11.
2012: Begoña Martinez-Cruz; Mihai G Netea; Horolma Pamjav; Theo Plantinga; Paula Sanz; Jos W M van der Meer; Lara R Arauna; Sandu Boengiu; Francesc Calafell; David Comas; Mihai Ioana; Ramona Ionescu; Luba Kalaydjieva; Halyna Makukh
Y-chromosome analysis in individuals bearing the Basarab name of the first dynasty of Wallachian kings.
PloS one 2012;7(7):e41803.
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: Verónica Barca-Tierno; Eva Barroso; Sara Benito-Sanz; Angel Campos-Barros; Jaime Cruz; Begoña Ezquieta; Ricardo Gracía; DAMIA HEINE; Luba Kalaydjieva; Lucia Sentchordi Montané; Jesús Pozo; José Ignacio Rodríguez; Jordi Rosell; Fernando Santos; Teresa Vendrell; Jesús Argente; Miriam Aza-Carmona; Dimitar Azmanov; Karen E Heath
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
European journal of human genetics : EJHG 2011;19(12):1218-25.
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: Bharti Morar; Flavie A V Waters; David Chandler; M Dragović; Luba Kalaydjieva; Assen Jablensky
Neuregulin 3 (NRG3) as a susceptibility gene in a schizophrenia subtype with florid delusions and relatively spared cognition.
Molecular psychiatry 2011;16(8):860-6.
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.
2011: Assen Jablensky; Bharti Morar; K Peters; S Wiltshire; Johanna Badcock; Kim Carter; David Chandler; Milan Dragovic; Luba Kalaydjieva
Polymorphisms associated with normal memory variation also affect memory impairment in schizophrenia.
Genes, brain, and behavior 2011;10(4):410-7.
2011: Tod Fullston; Bronte Gabb; David Callen; Reinhard Ullmann; Erica Woollatt; Sharon Bain; Hilger H Ropers; Matt Cooper; David Chandler; Kim Carter; Assen Jablensky; Luba Kalaydjieva; Jozef Gecz
Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011;156(2):204-14.
2011: Dimitar N Azmanov; Stanislava Dimitrova; Laura Florez; Sylvia Cherninkova; Dragomir Draganov; Bharti Morar; Rosmawati Saat; Manel Juan; Juan I Arostegui; Sriparna Ganguly; Himla Soodyall; Subhabrata Chakrabarti; Harish Padh; Miguel A López-Nevot; Violeta Chernodrinska; Botio Anguelov; Partha Majumder; Lyudmila Angelova; RAdka Kaneva; David A Mackey; Ivailo Tournev; Luba Kalaydjieva
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
European journal of human genetics : EJHG 2011;19(3):326-33.
2011: Tomas Hruz; Markus Wyss; Mylene Docquier; Michael W Pfaffl; Sabine Masanetz; Lorenzo Borghi; Phebe Verbrugghe; Luba Kalaydjieva; Stefan Bleuler; Oliver Laule; Patrick Descombes; Wilhelm Gruissem; Philip Zimmermann
RefGenes: identification of reliable and condition specific reference genes for RT-qPCR data normalization.
BMC genomics 2011;12():156.
2010: Dimitar N Azmanov; Sashka Zhelyazkova; Petya S Dimova; Melania Radionova; Veneta Bojinova; Laura Florez; Shelagh J Smith; Ivailo Tournev; Assen Jablensky; John Mulley; Ingrid Scheffer; Luba Kalaydjieva; Josemir W Sander
Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
Epileptic disorders : international epilepsy journal with videotape 2010;12(2):117-24.
2010: David Chandler; Milan Dragović; Matthew Cooper; Johanna Badcock; Benjamin H Mullin; Deb Faulkner; Scott G Wilson; Joachim Hallmayer; Sarah Howell; Daniel Rock; Lyle Palmer; Luba Kalaydjieva; Assen Jablensky
Impact of Neuritin 1 (NRN1) polymorphisms on fluid intelligence in schizophrenia.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010;153B(2):428-37.
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: Manir Ali; Martin McKibbin; Adam Booth; David A Parry; Payal Jain; Sheikh Amer Riazuddin; J Fielding Hejtmancik; Shaheen N Khan; Sabika Firasat; Mike Shires; David F Gilmour; Katherine Towns; Anna-Louise Murphy; Dimitar Azmanov; Ivailo Tournev; Sylvia Cherninkova; Hussain Jafri; Yasmin Raashid; Carmel Toomes; Jamie Craig; David A Mackey; Luba Kalaydjieva; Sheikh Riazuddin; Chris F Inglehearn
Null mutations in LTBP2 cause primary congenital glaucoma.
American journal of human genetics 2009;84(5):664-71.
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: Kirsten Peters; Steven Wiltshire; Anjali K Henders; Milan Dragović; Johanna Badcock; David Chandler; Sarah Howell; Chris Ellis; Sonja Bouwer; Grant W Montgomery; Lyle Palmer; Luba Kalaydjieva; Assen Jablensky
Comprehensive analysis of tagging sequence variants in DTNBP1 shows no association with schizophrenia or with its composite neurocognitive endophenotypes.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008;147B(7):1159-66.
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.
2008: Esther Mancebo; Miguel A Moreno-Pelayo; Angeles Mencía; Oscar de la Calle-Martín; Luis M Allende; Padma Sivadorai; Luba Kalaydjieva; Jaume Bertranpetit; Eliecer Coto; Sara Calleja-Antolín; Jesús Ruiz Contreras; Estela Paz-Artal
Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies.
Molecular immunology 2008;45(2):479-84.
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: Sotiria Mastroyianni; Anastasia Garoufi; Konstantinos A Voudris; Angeliki Skardoutsou; Constantinos Stefanidis; Eustathia Katsarou; Rebecca Gooding; Luba Kalaydjieva
Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis.
European journal of pediatrics 2007;166(7):747-9.
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.
2006: Ivanka Sinigerska; David Chandler; Vijesh Vaghjiani; Irfet Hassanova; Rebecca Gooding; Amelia Morrone; Ivo Kremensky; Luba Kalaydjieva
Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population.
Molecular genetics and metabolism 2006;88(1):93-5.
2006: Luba Kalaydjieva
Congenital cataracts-facial dysmorphism-neuropathy.
Orphanet journal of rare diseases 2006;1():32.
2006: Velina Guergueltcheva; Ivailo Tournev; Veneta Bojinova; Janina Hantke; Ivan Litvinenko; Boryana Ishpekova; Alexander Shmarov; Julia Petrova; Albena Jordanova; Luba Kalaydjieva
Early clinical and electrophysiologic features of the two most common autosomal recessive forms of Charcot-Marie-Tooth disease in the Roma (Gypsies).
Journal of child neurology 2006;21(1):20-5.
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: Luba Kalaydjieva; Bharti Morar; Raphaëlle Chaix; Hua Tang
A newly discovered founder population: the Roma/Gypsies.
BioEssays : news and reviews in molecular, cellular and developmental biology 2005;27(10):1084-94.
2005: Joachim Hallmayer; Luba Kalaydjieva; Johanna Badcock; Milan Dragovic; Sarah Howell; Patricia T Michie; Daniel Rock; David Vile; Rachael Williams; Elizabeth H Corder; Kate Hollingsworth; Assen Jablensky
Genetic evidence for a distinct subtype of schizophrenia characterized by pervasive cognitive deficit.
American journal of human genetics 2005;77(3):468-76.
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.
2005: Luba Kalaydjieva; Hanns Lochmüller; Ivailo Tournev; Frank Baas; Judit Beres; Jaume Colomer; Velina Guergueltcheva; Ralf Herrmann; Veronika Karcagi; Rosalind King; Toshiyuki Miyata; Andrea Müllner-Eidenböck; Tomohiko Okuda; Vedrana Milic-Rasic; Manuela Santos; Beril Talim; Juan Vilchez; Maggie Walter; Andoni Urtizberea; Luciano Merlini
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2005;15(1):65-71.
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.
2004: Andrea Müllner-Eidenböck; Elisabeth Moser; Nina Klebermass; Michael Amon; Maggie C Walter; Hanns Lochmüller; Rebecca Gooding; Luba Kalaydjieva
Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.
Ophthalmology 2004;111(7):1415-23.
2004: RAdka Kaneva; Vesselin M Chorbov; vihra milanova; Christian S Kostov; Kaloian I Nickolov; Christina F Chakarova; Vesela S Stoyanova; Amelia N Nikolova-Hill; Stefan K Krastev; Georgi Onchev; Ivo Kremensky; Luba Kalaydjieva; Assen Jablensky
Linkage analysis in bipolar pedigrees adds support for a susceptibility locus on 21q22.
Psychiatric genetics 2004;14(2):101-6.
2004: Raphaëlle Chaix; Frédéric Austerlitz; Bharti Morar; Luba Kalaydjieva; Evelyne Heyer
Vlax Roma history: what do coalescent-based methods tell us?
European journal of human genetics : EJHG 2004;12(4):285-92.
2004: Lev Zhivotovsky; Peter A Underhill; Cengiz Cinnioğlu; Manfred Kayser; Bharti Morar; Toomas Kivisild; Rosaria Scozzari; Fulvio Cruciani; Giovanni Destro-Bisol; Gabriella Spedini; Geoffrey K Chambers; Rene J Herrera; Kiau Kiun Yong; David Gresham; Ivailo Tournev; marcel salathe; Luba Kalaydjieva
The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time.
American journal of human genetics 2004;74(1):50-61.
2003: Frédéric Austerlitz; Luba Kalaydjieva; Evelyne Heyer
Detecting population growth, selection and inherited fertility from haplotypic data in humans.
Genetics 2003;165(3):1579-86.
2003: Janina Hantke; Tamara Rogers; Lisa French; Ivailo Tournev; Velina Guergueltcheva; J Andoni Urtizberea; Jaume Colomer; Axinia Corches; Contantin Lupu; Luciano Merlini; PK Thomas; Luba Kalaydjieva
Refined mapping of the HMSNR critical gene region--construction of a high-density integrated genetic and physical map.
Neuromuscular disorders : NMD 2003;13(9):729-36.
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.
2003: Michael Hunter; Rafaëlle Bernard; Elizabeth M Freitas; Amandine Boyer; Bharti Morar; Ian J Martins; Ivailo Tournev; Albena Jordanova; Velina Guergelcheva; Boryana Ishpekova; Ivo Kremensky; Garth Nicholson; Beate Schlotter; Hanns Lochmüller; Thomas Voit; Jaume Colomer; PK Thomas; Nicolas Levy; Luba Kalaydjieva
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.
Human mutation 2003;22(2):129-35.
2003: Assen Jablensky; Luba Kalaydjieva
Genetic epidemiology of schizophrenia: phenotypes, risk factors, and reproductive behavior.
The American journal of psychiatry 2003;160(3):425-9.
2003: Marcel Kwa; Ivo van Schaik; Rosalein R De Jonge; Anneke Brand; Luba Kalaydjieva; Nico van Belzen; Marinus Vermeulen; Frank Baas
Autoimmunoreactivity to Schwann cells in patients with inflammatory neuropathies.
Brain : a journal of neurology 2003;126(Pt 2):361-75.
2003: Cheryl A Wise; Maxime Paris; Bharti Morar; Wei Wang; Luba Kalaydjieva; Alan H Bittles
A standard protocol for single nucleotide primer extension in the human genome using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
Rapid communications in mass spectrometry : RCM 2003;17(11):1195-202.
2002: Celia A May; Angela C Shone; Luba Kalaydjieva; Antti Sajantila; Alec J Jeffreys
Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX.
Nature genetics 2002;31(3):272-5.
2002: Albena Jordanova; Veronika Kargaci; Ivo Kremensky; Ivan Litvinenko; Maria Uzunova; Ivajlo Turnev; Boryana Ishpekova; Agnes Herzegfalvi; Irina Simeonova; Luba Kalaydjieva
Spinal muscular atrophy among the Roma (Gypsies) in Bulgaria and Hungary.
Neuromuscular disorders : NMD 2002;12(4):378-85.
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: Luba Kalaydjieva; David Gresham; Francesc Calafell
Genetic studies of the Roma (Gypsies): a review.
BMC medical genetics 2001;2():5.
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.
2000: Luciano Merlini; Jean-Claude Kaplan; C Navarro; Annie Barois; Dominique Bonneau; J Brasa; B Echenne; Pía Gallano; L Jarre; Marc Jeanpierre; Luba Kalaydjieva; France Leturcq; A Levi-Gomes; Annick Toutain; Ivailo Tournev; Andoni Urtizberea; J M Vallat; T Voit; J M Warter
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.
Neurology 2000;54(5):1075-9.
2000: Nadja Bogdanova; Marie McCluskey; K Sikmann; Arseni Markoff; Vassil Todorov; D Dimitrakov; Tina Schiavello; Mark Thomas; Luba Kalaydjieva; Bernd Dworniczak; Jürgen Horst
Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations.
Human mutation 2000;16(2):166-74.
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: B Salmon; Joachim Hallmayer; T Rogers; Luba Kalaydjieva; P Brent Petersen; P Nicholas; Carmen Pingree; William M McMahon; Donna Spiker; Linda J Lotspeich; Helena C Kraemer; P McCague; Sue Dimiceli; N Nouri; T Pitts; J Yang; David Hinds; Richard Myers; Neil Risch
Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism.
American journal of medical genetics 1999;88(5):551-6.
1999: Rosalind H M King; Ivailo Tournev; Jaume Colomer; Luciano Merlini; Luba Kalaydjieva; PK Thomas
Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom.
Neuropathology and applied neurobiology 1999;25(4):306-12.
1999: Ivailo Tournev; Rosalind H M King; J Workman; Michelle Nourallah; John R Muddle; Luba Kalaydjieva; K Romanski; PK Thomas
Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome.
Acta neuropathologica 1999;98(2):165-70.
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.
1999: T Rogers; Luba Kalaydjieva; Joachim Hallmayer; P Brent Petersen; P Nicholas; Carmen Pingree; William M McMahon; Donna Spiker; Linda J Lotspeich; Helena C Kraemer; P McCague; Sue Dimiceli; N Nouri; T Peachy; J Yang; David Hinds; Neil Risch; Richard Myers
Exclusion of linkage to the HLA region in ninety multiplex sibships with autism.
Journal of autism and developmental disorders 1999;29(3):195-201.
1999: Ivailo Tournev; Luba Kalaydjieva; B Youl; Boryana Ishpekova; Velina Guergueltcheva; O Kamenov; M Katzarova; Zdravko A Kamenov; M Raicheva-Terzieva; Rosalind H M King; K Romanski; Radoslav Petkov; A Schmarov; G Dimitrova; N Popova; Maria Uzunova; S Milanov; Julia Petrova; Y Petkov; G Kolarov; L Aneva; O Radeva; PK Thomas
Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations.
Annals of neurology 1999;45(6):742-50.
1998: H Nomura; A E Turco; Y Pei; Luba Kalaydjieva; Tina Schiavello; Stanislawa Weremowicz; W Ji; Cynthia C Morton; Miriam H Meisler; S T Reeders; Jing Zhou
Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects.
The Journal of biological chemistry 1998;273(40):25967-73.
1998: PH Meijerink; Peter Ianakiev; I Zorn; andy grierson; Hennie Bikker; Danielle E Dye; Luba Kalaydjieva; Frank Baas
The gene for the human Src-like adaptor protein (hSLAP) is located within the 64-kb intron of the thyroglobulin gene.
European journal of biochemistry / FEBS 1998;254(2):297-303.
1998: Luciano Merlini; Marcello Villanova; Patrizia Sabatelli; A Trogu; A Malandrini; Peter Ianakiev; N M Maraldi; Luba Kalaydjieva
Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family.
Neuromuscular disorders : NMD 1998;8(3-4):182-5.
1998: M Baethmann; G Göhlich-Ratmann; JM Schröder; Luba Kalaydjieva; Thomas Voit
HMSNL in a 13-year-old Bulgarian girl.
Neuromuscular disorders : NMD 1998;8(2):90-4.
1998: Luba Kalaydjieva; A Nikolova; Ivajlo Turnev; Julia Petrova; A Hristova; Boryana Ishpekova; I Petkova; Alexander Shmarov; S Stancheva; L Middleton; Luciano Merlini; A Trogu; John R Muddle; Rosalind H M King; PK Thomas
Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings.
Brain : a journal of neurology 1998;121 ( Pt 3)():399-408.
1998: RAdka Kaneva; vihra milanova; Georgi Onchev; Vesela S Stoyanova; C H Chakarova; A Nikolova; Joachim Hallmayer; M Belemezova; T Milenska; George Kirov; Ivo Kremensky; Luba Kalaydjieva; Assen Jablensky
A linkage study of affective disorders in two Bulgarian Gypsy families: results for candidate regions on chromosomes 18 and 21.
Psychiatric genetics 1998;8(4):245-9.
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: Kyproula Christodoulou; T Kyriakides; A H Hristova; Domna-Maria Georgiou; Luba Kalaydjieva; B Yshpekova; T Ivanova; J L Weber; Lefkos T Middleton
Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.
Human molecular genetics 1995;4(9):1629-32.
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: Nadja Bogdanova; Bernd Dworniczak; D Dragova; V Todorov; Dimitar J Dimitrakov; K Kalinov; Joachim Hallmayer; Jürgen Horst; Luba Kalaydjieva
Genetic heterogeneity of polycystic kidney disease in Bulgaria.
Human genetics 1995;95(6):645-50.
1994: N Morral; Jaume Bertranpetit; Xavier Estivill; Virginia Nunes; Teresa Casals; Javier Giménez; A Reis; R Varon-Mateeva; M Macek; Luba Kalaydjieva
The origin of the major cystic fibrosis mutation (delta F508) in European populations.
Nature genetics 1994;7(2):169-75.
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: J Bronzova; Albena Todorova; Luba Kalaydjieva
Detection of carriers of deletions in the dystrophin gene in Bulgarian DMD-BMD families.
Human genetics 1994;93(2):170-4.
1994: Alexey Savov; B Mercier; Luba Kalaydjieva; C Férec
Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing.
Human molecular genetics 1994;3(1):57-60.
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.
1992: Luba Kalaydjieva; Ivo Kremensky
Screening for phenylketonuria in a totalitarian state.
Journal of medical genetics 1992;29(9):656-8.
1992: Luba Kalaydjieva; Bernd Dworniczak; Ivo Kremensky; K Koprivarova; B Radeva; R Milusheva; C Aulehla-Scholz; Jürgen Horst
Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles.
Clinical genetics 1992;41(3):123-8.
1992: Bernd Dworniczak; Luba Kalaydjieva; S Pankoke; C Aulehla-Scholz; G Allen; Jürgen Horst
Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?
Human mutation 1992;1(2):138-46.
1991: Luba Kalaydjieva; Dora Angelicheva; I Galeva; V Lalov; D Konstantinova
Cystic fibrosis in Bulgaria.
Journal of medical genetics 1991;28(11):807.
1991: Bernd Dworniczak; C Aulehla-Scholz; Luba Kalaydjieva; K Bartholomé; K Grudda; Jürgen Horst
Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe.
Genomics 1991;11(2):242-6.
1991: Luba Kalaydjieva; Bernd Dworniczak; C Aulehla-Scholz; M Devoto; Giovanni Romeo; M Sturhmann; V Kucinskas; V Yurgelyavicius; Jürgen Horst
Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.
Journal of medical genetics 1991;28(10):686-90.
1991: Antonin Eigel; Bernd Dworniczak; Luba Kalaydjieva; Jürgen Horst
A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1.
Human genetics 1991;87(6):739-41.
1991: Bernd Dworniczak; Luba Kalaydjieva; C Aulehla-Scholz; Kurt Ullrich; Ivo Kremensky; B Radeva; Jürgen Horst
Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene.
Human genetics 1991;87(6):731-3.
1991: Luba Kalaydjieva; Bernd Dworniczak; C Aulehla-Scholz; M Devoto; Giovanni Romeo; Manfred Stuhrmann; Jürgen Horst
Phenylketonuria mutation in southern Europeans.
Lancet 1991;337(8745):865.
1991: Luba Kalaydjieva; Bernd Dworniczak; V Kucinskas; V Yurgeliavicius; E Kunert; Jürgen Horst
Geographical distribution gradients of the major PKU mutations and the linked haplotypes.
Human genetics 1991;86(4):411-3.
1990: Luba Kalaydjieva; Bernd Dworniczak; C Aulehla-Scholz; Ivo Kremensky; J Bronzova; Antonin Eigel; Jürgen Horst
Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations.
Journal of medical genetics 1990;27(12):742-5.
1990: Luba Kalaydjieva; J Antov; J Bronzova; V Vladimirova; Jürgen Horst
Molecular data on cystic fibrosis in Bulgaria.
Human genetics 1990;85(4):412-3.
1989: Luba Kalaydjieva; Antonin Eigel; J Horst
The molecular basis of beta thalassaemia in Bulgaria.
Journal of medical genetics 1989;26(10):614-8.
1989: Ivo Kremensky; Luba Kalaydjieva
Avoiding sources of error in PKU screening.
American journal of clinical pathology 1989;92(3):396-7.