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Neuregulin 3 (NRG3) as a susceptibility gene in a schizophrenia subtype with florid delusions and relatively spared cognition
Author / Creator:Morar, B ; Dragović, M ; Waters, F A V ; Chandler, D ; Kalaydjieva, L ; Jablensky, A
Publisher:London: Nature Publishing Group UK
Journal title:Molecular psychiatry, 2011-08, Vol.16 (8), p.860-866
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Associations between psychosis endophenotypes across brain functional, structural, and cognitive domains
Author / Creator:Blakey, R. ; Ranlund, S. ; Zartaloudi, E. ; Cahn, W. ; Calafato, S. ; Colizzi, M. ; Crespo-Facorro, B. ; Daniel, C. ; Díez-Revuelta, Á. ; Di Forti, M. ; Iyegbe, C. ; Jablensky, A. ; Jones, R. ; Hall, M.-H. ; Kahn, R. ; Kalaydjieva, L. ; Kravariti, E. ; Lin, K. ; McDonald, C. ; McIntosh, A. M. ; Picchioni, M. ; Powell, J. ; Presman, A. ; Rujescu, D. ; Schulze, K. ; Shaikh, M. ; Thygesen, J. H. ; Toulopoulou, T. ; Van Haren, N. ; Van Os, J. ; Walshe, M. ; Murray, R. M. ; Bramon, E.
Publisher:Cambridge, UK: Cambridge University Press
Journal title:Psychological medicine, 2018-06, Vol.48 (8), p.1325-1340
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A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
Author / Creator:Gooding, R ; Colomer, J ; King, R ; Angelicheva, D ; Marns, L ; Parman, Y ; Chandler, D ; Bertranpetit, J ; Kalaydjieva, L
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2005-12, Vol.42 (12), p.e69-e69
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Promoter polymorphisms in two overlapping 6p25 genes implicate mitochondrial proteins in cognitive deficit in schizophrenia
Author / Creator:Jablensky, A ; Angelicheva, D ; Donohoe, G J ; Cruickshank, M ; Azmanov, D N ; Morris, D W ; McRae, A ; Weickert, C S ; Carter, K W ; Chandler, D ; Alexandrov, B ; Usheva, A ; Morar, B ; Verbrugghe, P L ; Filipovska, A ; Rackham, O ; Bishop, A R ; Rasmussen, K Ø ; Dragovic, M ; Cooper, M ; Phillips, M ; Badcock, J ; Bramon-Bosch, E ; Almeida, O P ; Flicker, L ; Gill, M ; Corvin, A ; MacGregor, S ; Kalaydjieva, L
Publisher:London: Nature Publishing Group UK
Journal title:Molecular psychiatry, 2012-12, Vol.17 (12), p.1328-1339
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The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe
Author / Creator:Bouwer, S.T. ; Coto, E. ; Santos, F. ; Angelicheva, D. ; Chandler, D. ; Kalaydjieva, L.
Publisher:United States: Elsevier Inc
Journal title:Kidney international, 2007-10, Vol.72 (7), p.898-898
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Vlax Roma history: what do coalescent-based methods tell us?
Author / Creator:Chaix, R ; Austerlitz, F ; Morar, B ; Kalaydjieva, L ; Heyer, E
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2004-04, Vol.12 (4), p.285-292
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Severe neuropsychiatric symptoms in two siblings with intermediate type of Niemann-Pick disease
Author / Creator:Mihaylova, V. ; Hantke, J. ; Cherninkova, S. ; Krastev, S. ; Radionova, M. ; Raicheva, M. ; Sinigerska, I. ; Jelev, H. ; Jablensky, A. ; Kalaydjieva, L. ; Tournev, I.
Publisher:Dordrecht: D. Steinkopff-Verlag
Journal title:Journal of neurology, 2008-09, Vol.255 (9), p.1434-1435
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Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome
Author / Creator:Tournev, I. ; King, R. H. M. ; Workman, J. ; Nourallah, M. ; Muddle, J. R. ; Kalaydjieva, L. ; Romanski, K. ; Thomas, P. K.
Publisher:Berlin: Springer
Journal title:Acta neuropathologica, 1999-08, Vol.98 (2), p.165-170
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Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome
Author / Creator:Varon, Raymonda ; Gooding, Rebecca ; Steglich, Christina ; Marns, Lorna ; Tang, Hua ; Angelicheva, Dora ; Yong, Kiau Kiun ; Ambrugger, Petra ; Reinhold, Anke ; Morar, Bharti ; Baas, Frank ; Kwa, Marcel ; Tournev, Ivailo ; Guerguelcheva, Velina ; Kremensky, Ivo ; Lochmüller, Hanns ; Müllner-Eidenböck, Andrea ; Merlini, Luciano ; Neumann, Luitgard ; Bürger, Joachim ; Walter, Maggie ; Swoboda, Kathryn ; Thomas, P K ; von Moers, Arpad ; Risch, Neil ; Kalaydjieva, Luba
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2003-10, Vol.35 (2), p.185-189
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A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations
Author / Creator:Mercier, B ; Lissens, W ; Novelli, G ; Kalaydjieva, L ; de Arce, M ; Kapranov, N ; Canki Klain, N ; Estivill, X ; Palacio, A ; Cashman, S
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 1994-09, Vol.31 (9), p.731-734
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Further Evidence of Cystic Fibrosis Heterogeneity in Southern Europe
Author / Creator:Kalaydjieva, L. ; Plageras, P. ; Horst, J.
Publisher:Basel, Switzerland: S. Karger
Journal title:Human heredity, 1991-01, Vol.41 (1), p.65-67
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Genetic studies of the Roma (Gypsies): a review
Author / Creator:Kalaydjieva, Luba ; Gresham, David ; Calafell, Francesc
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2001-04, Vol.2 (1), p.5-5, Article 5
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Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX
Author / Creator:May, Celia A. ; Shone, Angela C. ; Kalaydjieva, Luba ; Sajantila, Antti ; Jeffreys, Alec J.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2002-07, Vol.31 (3), p.272-275
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Carrier Rates of the Ancestral Indian W24X Mutation in GJB2 in the General Gypsy Population and Individual Subisolates
Author / Creator:Bouwer, Sonja ; Angelicheva, Dora ; Chandler, David ; Seeman, Pavel ; Tournev, Ivailo ; Kalaydjieva, Luba
Publisher:United States: Mary Ann Liebert, Inc
Journal title:Genetic testing, 2007-12, Vol.11 (4), p.455-458
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Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis
Author / Creator:Hamosh, A ; Rosenstein, B J ; Nash, E ; Curristin, S M
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 1993-10, Vol.329 (18), p.1308-1313
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Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease
Author / Creator:Hunter, Michael ; Bernard, Rafaëlle ; Freitas, Elizabeth ; Boyer, Amandine ; Morar, Bharti ; Martins, Ian J. ; Tournev, Ivailo ; Jordanova, Albena ; Guergelcheva, Velina ; Ishpekova, Boryana ; Kremensky, Ivo ; Nicholson, Garth ; Schlotter, Beate ; Lochmüller, Hanns ; Voit, Thomas ; Colomer, Jaume ; Thomas, P.K. ; Levy, Nicolas ; Kalaydjieva, Luba
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-08, Vol.22 (2), p.129-135
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Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages
Author / Creator:Kalaydjieva, Luba ; Calafell, Francesc ; Jobling, Mark A ; Angelicheva, Dora ; de Knijff, Peter ; Rosser, ZoëH ; Hurles, Matthew E ; Underhill, Peter ; Tournev, Ivailo ; Marushiakova, Elena ; Popov, Vesselin
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2001-02, Vol.9 (2), p.97-104
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SSCP analysis: A blind sensitivity trial
Author / Creator:Jordanova, Albena ; Kalaydjieva, Luba ; Savov, Alexey ; Claustres, Mireille ; Schwarz, Martin ; Estivill, Xavier ; Angelicheva, Dora ; Haworth, Andrea ; Casals, Teresa ; Kremensky, Ivo
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 1997, Vol.10 (1), p.65-70
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Novel mutations in the GALK1 gene in patients with galactokinase deficiency
Author / Creator:Hunter, Michael ; Angelicheva, Dora ; Levy, Harvey L. ; Pueschel, Sigfried M. ; Kalaydjieva, Luba
Publisher:New York: John Wiley & Sons, Inc
Journal title:Human mutation, 2001, Vol.17 (1), p.77-78
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Exclusion of linkage to the HLA region in ninety multiplex sibships with autism
Author / Creator:ROGERS, T ; KALAYDJIEVA, L ; MCCAGUE, P ; DIMICELI, S ; NOURI, N ; PEACHY, T ; YANG, J ; HINDS, D ; RISCH, N ; MYERS, R. M ; HALLMAYER, J ; PETERSEN, P. B ; NICHOLAS, P ; PINGREE, C ; MCMAHON, W. M ; SPIKER, D ; LOTSPEICH, L ; KRAEMER, H
Publisher:Heidelberg: Springer
Journal title:Journal of autism and developmental disorders, 1999-06, Vol.29 (3), p.195-201
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Showing 1 to 20 of 26 results

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Neuregulin 3 (NRG3) as a susceptibility gene in a schizophrenia subtype with florid delusions and relatively spared cognition

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Associations between psychosis endophenotypes across brain functional, structural, and cognitive domains

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A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

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Promoter polymorphisms in two overlapping 6p25 genes implicate mitochondrial proteins in cognitive deficit in schizophrenia

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The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe

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Vlax Roma history: what do coalescent-based methods tell us?

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Severe neuropsychiatric symptoms in two siblings with intermediate type of Niemann-Pick disease

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Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome

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Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

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A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations

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Further Evidence of Cystic Fibrosis Heterogeneity in Southern Europe

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Genetic studies of the Roma (Gypsies): a review

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Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX

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Carrier Rates of the Ancestral Indian W24X Mutation in GJB2 in the General Gypsy Population and Individual Subisolates

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Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis

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Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease

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Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages

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SSCP analysis: A blind sensitivity trial

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Novel mutations in the GALK1 gene in patients with galactokinase deficiency

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Exclusion of linkage to the HLA region in ninety multiplex sibships with autism

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